Incidental Mutation 'R4801:Pkd1'
| ID |
401840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1
|
| Ensembl Gene |
ENSMUSG00000032855 |
| Gene Name |
polycystin 1, transient receptor poteintial channel interacting |
| Synonyms |
PC-1, polycystin-1, PC1 |
| MMRRC Submission |
042423-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_013630.2; MGI:97603
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4801 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24549834-24596508 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24578096 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 2493
(G2493D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000226883]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035565
AA Change: G2493D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: G2493D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LRRNT
|
32 |
71 |
1.61e-8 |
SMART |
|
LRR_TYP
|
90 |
113 |
2.47e-5 |
SMART |
|
LRRCT
|
125 |
177 |
3.84e-12 |
SMART |
|
WSC
|
177 |
271 |
6.93e-34 |
SMART |
|
PKD
|
272 |
355 |
2.72e-15 |
SMART |
|
CLECT
|
406 |
530 |
5.72e-20 |
SMART |
|
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
788 |
N/A |
INTRINSIC |
|
PKD
|
930 |
1008 |
1.06e-8 |
SMART |
|
PKD
|
1015 |
1119 |
2.26e-12 |
SMART |
|
PKD
|
1122 |
1205 |
2.03e-14 |
SMART |
|
PKD
|
1208 |
1288 |
1.14e-17 |
SMART |
|
PKD
|
1290 |
1373 |
2.35e-10 |
SMART |
|
PKD
|
1374 |
1459 |
7.63e-10 |
SMART |
|
PKD
|
1464 |
1541 |
1.95e-16 |
SMART |
|
PKD
|
1544 |
1625 |
1.05e-16 |
SMART |
|
PKD
|
1631 |
1714 |
1.93e-1 |
SMART |
|
PKD
|
1716 |
1798 |
2.21e-15 |
SMART |
|
PKD
|
1799 |
1882 |
5.7e-9 |
SMART |
|
PKD
|
1884 |
1964 |
1.56e-6 |
SMART |
|
PKD
|
1968 |
2056 |
3.1e-10 |
SMART |
|
PKD
|
2057 |
2140 |
1.74e-13 |
SMART |
|
Pfam:REJ
|
2167 |
2610 |
1e-108 |
PFAM |
|
low complexity region
|
2697 |
2706 |
N/A |
INTRINSIC |
|
GPS
|
3003 |
3052 |
1.33e-12 |
SMART |
|
transmembrane domain
|
3065 |
3087 |
N/A |
INTRINSIC |
|
LH2
|
3110 |
3224 |
3.5e-18 |
SMART |
|
transmembrane domain
|
3275 |
3294 |
N/A |
INTRINSIC |
|
transmembrane domain
|
3314 |
3336 |
N/A |
INTRINSIC |
|
low complexity region
|
3357 |
3378 |
N/A |
INTRINSIC |
|
low complexity region
|
3479 |
3492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
3547 |
3569 |
N/A |
INTRINSIC |
|
low complexity region
|
3573 |
3591 |
N/A |
INTRINSIC |
|
low complexity region
|
3626 |
3639 |
N/A |
INTRINSIC |
|
low complexity region
|
3661 |
3676 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
3701 |
4103 |
7.1e-125 |
PFAM |
|
low complexity region
|
4153 |
4172 |
N/A |
INTRINSIC |
|
low complexity region
|
4238 |
4256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226178
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226883
AA Change: G2D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227107
AA Change: G156D
|
| Meta Mutation Damage Score |
0.5847 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (88/89) |
| MGI Phenotype |
Strain: Several; see below
Lethality: E13-E15
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(32) : Targeted(28) Gene trapped(3) Chemically induced(1)
|
| Other mutations in this stock |
Total: 164 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,983,926 (GRCm38) |
|
probably null |
Het |
| Aadacl3 |
A |
G |
4: 144,456,232 (GRCm38) |
I222T |
probably damaging |
Het |
| Abca13 |
G |
T |
11: 9,522,341 (GRCm38) |
G4249V |
possibly damaging |
Het |
| Abcb10 |
A |
G |
8: 123,966,527 (GRCm38) |
V346A |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,819,361 (GRCm38) |
I814F |
probably damaging |
Het |
| AF366264 |
T |
A |
8: 13,836,970 (GRCm38) |
I374F |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,124,226 (GRCm38) |
E148K |
probably damaging |
Het |
| Ankrd28 |
A |
C |
14: 31,736,830 (GRCm38) |
D335E |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,762,316 (GRCm38) |
H284R |
probably damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,591,906 (GRCm38) |
Q1849K |
probably benign |
Het |
| Atp2c2 |
T |
C |
8: 119,747,687 (GRCm38) |
M490T |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,722,452 (GRCm38) |
D543E |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,282,225 (GRCm38) |
V1558I |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,655,614 (GRCm38) |
W168R |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,529,594 (GRCm38) |
D766V |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,513,768 (GRCm38) |
D40G |
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,573,643 (GRCm38) |
C598Y |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,957,825 (GRCm38) |
N197K |
possibly damaging |
Het |
| Cenpf |
T |
A |
1: 189,651,220 (GRCm38) |
E2634D |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,411,141 (GRCm38) |
K63R |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,807,351 (GRCm38) |
S478T |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,607,862 (GRCm38) |
M199T |
possibly damaging |
Het |
| Cntnap4 |
T |
A |
8: 112,773,590 (GRCm38) |
S505T |
possibly damaging |
Het |
| Cr2 |
C |
T |
1: 195,163,311 (GRCm38) |
G112D |
probably damaging |
Het |
| Crb2 |
T |
A |
2: 37,793,756 (GRCm38) |
I1090N |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,621,292 (GRCm38) |
P3057Q |
probably damaging |
Het |
| Ctso |
G |
A |
3: 81,954,240 (GRCm38) |
V307I |
probably damaging |
Het |
| Cyp3a41b |
T |
A |
5: 145,573,651 (GRCm38) |
T138S |
probably benign |
Het |
| Dctn3 |
G |
T |
4: 41,719,904 (GRCm38) |
Y67* |
probably null |
Het |
| Dennd4c |
C |
A |
4: 86,819,884 (GRCm38) |
Y918* |
probably null |
Het |
| Dlg5 |
C |
T |
14: 24,154,689 (GRCm38) |
G1262D |
probably damaging |
Het |
| Dnaaf1 |
G |
A |
8: 119,577,361 (GRCm38) |
G46D |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,089,698 (GRCm38) |
V2563A |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,175,727 (GRCm38) |
Y1679H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,887,893 (GRCm38) |
Y578H |
probably benign |
Het |
| Endod1 |
C |
T |
9: 14,357,023 (GRCm38) |
V389M |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,365,506 (GRCm38) |
L582P |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,324,217 (GRCm38) |
L316S |
possibly damaging |
Het |
| Erbb4 |
G |
T |
1: 68,330,246 (GRCm38) |
T412K |
probably damaging |
Het |
| Fam117a |
T |
A |
11: 95,364,070 (GRCm38) |
F90I |
probably damaging |
Het |
| Fam187b |
T |
G |
7: 30,977,090 (GRCm38) |
V8G |
possibly damaging |
Het |
| Fam84b |
C |
A |
15: 60,823,944 (GRCm38) |
|
probably benign |
Het |
| Far1 |
T |
A |
7: 113,539,453 (GRCm38) |
I59N |
possibly damaging |
Het |
| Fbxo34 |
T |
A |
14: 47,530,869 (GRCm38) |
L562Q |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,916,628 (GRCm38) |
|
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,720,192 (GRCm38) |
P10Q |
probably damaging |
Het |
| Gm10698 |
A |
G |
9: 33,728,772 (GRCm38) |
|
noncoding transcript |
Het |
| Gm11487 |
C |
T |
4: 73,401,267 (GRCm38) |
W80* |
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,821,896 (GRCm38) |
Y436N |
probably benign |
Het |
| Gm21818 |
T |
A |
13: 120,173,222 (GRCm38) |
S13R |
probably benign |
Het |
| Gm5767 |
A |
G |
16: 8,683,345 (GRCm38) |
T22A |
unknown |
Het |
| Gm5799 |
A |
T |
14: 43,544,548 (GRCm38) |
H59L |
probably damaging |
Het |
| Gmppb |
T |
A |
9: 108,050,217 (GRCm38) |
V121E |
probably benign |
Het |
| Ighv7-4 |
G |
C |
12: 114,223,279 (GRCm38) |
|
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,631,214 (GRCm38) |
S446P |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,371,331 (GRCm38) |
T855A |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,101,064 (GRCm38) |
I283T |
possibly damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,685,267 (GRCm38) |
|
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,649,698 (GRCm38) |
Y399C |
possibly damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,221,318 (GRCm38) |
T207I |
probably benign |
Het |
| Lrriq3 |
A |
T |
3: 155,187,970 (GRCm38) |
H436L |
probably benign |
Het |
| Mad2l1bp |
T |
C |
17: 46,148,263 (GRCm38) |
K114E |
possibly damaging |
Het |
| Mamstr |
T |
C |
7: 45,642,418 (GRCm38) |
V64A |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 110,035,257 (GRCm38) |
S517T |
probably benign |
Het |
| Matn1 |
A |
T |
4: 130,950,025 (GRCm38) |
I182F |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,810,156 (GRCm38) |
I484T |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,278,773 (GRCm38) |
I1922F |
probably damaging |
Het |
| Metap2 |
A |
G |
10: 93,868,895 (GRCm38) |
V137A |
probably damaging |
Het |
| Mex3d |
A |
G |
10: 80,386,954 (GRCm38) |
V156A |
possibly damaging |
Het |
| Mfsd6 |
G |
A |
1: 52,709,596 (GRCm38) |
P37S |
probably benign |
Het |
| Mkl1 |
T |
C |
15: 81,104,799 (GRCm38) |
E7G |
probably benign |
Het |
| Mrgprx1 |
A |
C |
7: 48,021,211 (GRCm38) |
S263A |
possibly damaging |
Het |
| Msl1 |
C |
T |
11: 98,803,969 (GRCm38) |
R505* |
probably null |
Het |
| Mta2 |
T |
C |
19: 8,945,851 (GRCm38) |
S96P |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,195,251 (GRCm38) |
N986K |
probably benign |
Het |
| Mut |
A |
G |
17: 40,937,351 (GRCm38) |
T90A |
probably benign |
Het |
| Mutyh |
C |
T |
4: 116,817,029 (GRCm38) |
T259I |
probably benign |
Het |
| Myof |
T |
C |
19: 37,945,738 (GRCm38) |
T908A |
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,545,852 (GRCm38) |
D992V |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,200,703 (GRCm38) |
T1352A |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nudt6 |
G |
A |
3: 37,405,354 (GRCm38) |
R161C |
probably benign |
Het |
| Olfr1122 |
T |
A |
2: 87,388,209 (GRCm38) |
V168E |
probably benign |
Het |
| Olfr1173 |
T |
A |
2: 88,274,879 (GRCm38) |
M57L |
probably damaging |
Het |
| Olfr125 |
T |
C |
17: 37,835,349 (GRCm38) |
Y117H |
probably damaging |
Het |
| Olfr1276 |
T |
A |
2: 111,257,152 (GRCm38) |
F12L |
probably damaging |
Het |
| Olfr1411 |
T |
A |
1: 92,596,998 (GRCm38) |
C160S |
probably benign |
Het |
| Olfr154 |
T |
A |
2: 85,664,278 (GRCm38) |
D52V |
probably damaging |
Het |
| Olfr23 |
T |
A |
11: 73,940,870 (GRCm38) |
I208K |
possibly damaging |
Het |
| Olfr319 |
T |
C |
11: 58,701,791 (GRCm38) |
V30A |
probably benign |
Het |
| Olfr456 |
A |
T |
6: 42,486,679 (GRCm38) |
N171K |
probably benign |
Het |
| Olfr744 |
A |
G |
14: 50,619,022 (GRCm38) |
T267A |
probably benign |
Het |
| Olfr959 |
T |
G |
9: 39,572,858 (GRCm38) |
M134L |
probably benign |
Het |
| Olr1 |
A |
G |
6: 129,488,090 (GRCm38) |
F141S |
possibly damaging |
Het |
| Oprl1 |
G |
T |
2: 181,719,253 (GRCm38) |
M340I |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,901,336 (GRCm38) |
C72W |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,005,465 (GRCm38) |
I49N |
probably damaging |
Het |
| Pcdha4 |
T |
A |
18: 36,953,955 (GRCm38) |
L397* |
probably null |
Het |
| Pcdhb14 |
A |
G |
18: 37,448,278 (GRCm38) |
S146G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,675,815 (GRCm38) |
H1562Q |
unknown |
Het |
| Pcsk9 |
T |
C |
4: 106,447,569 (GRCm38) |
E434G |
probably benign |
Het |
| Phc2 |
A |
G |
4: 128,751,598 (GRCm38) |
K833E |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,292,862 (GRCm38) |
S480R |
probably damaging |
Het |
| Plk5 |
G |
A |
10: 80,359,304 (GRCm38) |
V179M |
possibly damaging |
Het |
| Polr1a |
G |
A |
6: 71,976,070 (GRCm38) |
V1541I |
probably benign |
Het |
| Ppard |
C |
G |
17: 28,286,374 (GRCm38) |
R12G |
unknown |
Het |
| Ppp1r14a |
A |
G |
7: 29,291,526 (GRCm38) |
D73G |
probably damaging |
Het |
| Psd3 |
C |
T |
8: 68,121,148 (GRCm38) |
R127H |
probably benign |
Het |
| Pten |
G |
T |
19: 32,758,503 (GRCm38) |
G20V |
possibly damaging |
Het |
| Ptprg |
T |
C |
14: 11,554,233 (GRCm38) |
|
probably benign |
Het |
| Rad54l |
T |
C |
4: 116,122,924 (GRCm38) |
D21G |
probably null |
Het |
| Rgs14 |
T |
C |
13: 55,380,957 (GRCm38) |
Y304H |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,240,868 (GRCm38) |
K346R |
probably damaging |
Het |
| Rnf169 |
C |
G |
7: 99,926,446 (GRCm38) |
G314A |
probably damaging |
Het |
| Rpgrip1l |
T |
A |
8: 91,270,177 (GRCm38) |
T692S |
probably damaging |
Het |
| Rtf1 |
T |
C |
2: 119,675,228 (GRCm38) |
V54A |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,708,660 (GRCm38) |
V938A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,708,227 (GRCm38) |
T2509A |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,687,932 (GRCm38) |
D2890V |
probably damaging |
Het |
| Scel |
A |
C |
14: 103,583,100 (GRCm38) |
T348P |
probably benign |
Het |
| Scgb1b2 |
G |
T |
7: 31,291,573 (GRCm38) |
L37I |
possibly damaging |
Het |
| Sdf4 |
A |
G |
4: 156,000,721 (GRCm38) |
H171R |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,393,363 (GRCm38) |
V295A |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,146,373 (GRCm38) |
S957T |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Six5 |
A |
G |
7: 19,096,969 (GRCm38) |
N507S |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,763,892 (GRCm38) |
|
probably null |
Het |
| Slc1a7 |
T |
A |
4: 107,993,040 (GRCm38) |
V116E |
probably damaging |
Het |
| Slc22a1 |
A |
G |
17: 12,675,535 (GRCm38) |
L42P |
probably damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,721,545 (GRCm38) |
I174F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,292,632 (GRCm38) |
M3L |
probably damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,845,497 (GRCm38) |
|
probably benign |
Het |
| Smcr8 |
C |
T |
11: 60,778,610 (GRCm38) |
|
probably null |
Het |
| Smg5 |
G |
T |
3: 88,355,692 (GRCm38) |
E801* |
probably null |
Het |
| Smgc |
C |
A |
15: 91,854,616 (GRCm38) |
H492Q |
probably benign |
Het |
| Smyd4 |
G |
T |
11: 75,403,184 (GRCm38) |
G694V |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,398,744 (GRCm38) |
T223A |
possibly damaging |
Het |
| Stab1 |
G |
T |
14: 31,141,371 (GRCm38) |
C2119* |
probably null |
Het |
| Taar9 |
A |
G |
10: 24,108,843 (GRCm38) |
I231T |
probably damaging |
Het |
| Tacr2 |
A |
G |
10: 62,261,548 (GRCm38) |
Y269C |
probably damaging |
Het |
| Taf3 |
T |
G |
2: 9,951,123 (GRCm38) |
K744N |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,906,245 (GRCm38) |
V2682E |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,822,663 (GRCm38) |
L1468R |
probably damaging |
Het |
| Tgds |
T |
C |
14: 118,117,033 (GRCm38) |
|
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,628,913 (GRCm38) |
Y380* |
probably null |
Het |
| Tgm5 |
T |
G |
2: 121,052,472 (GRCm38) |
K435Q |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,761,511 (GRCm38) |
T204A |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,294,679 (GRCm38) |
Y37C |
probably damaging |
Het |
| Tnn |
T |
C |
1: 160,145,033 (GRCm38) |
N333S |
possibly damaging |
Het |
| Tppp2 |
A |
G |
14: 51,919,348 (GRCm38) |
N61D |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,309,159 (GRCm38) |
T276A |
probably benign |
Het |
| Trit1 |
T |
C |
4: 123,016,638 (GRCm38) |
V10A |
probably benign |
Het |
| Uba1y |
T |
G |
Y: 825,890 (GRCm38) |
|
probably null |
Het |
| Uqcc1 |
T |
C |
2: 155,858,106 (GRCm38) |
|
probably benign |
Het |
| Vcam1 |
C |
G |
3: 116,115,935 (GRCm38) |
G581A |
probably damaging |
Het |
| Vmn1r16 |
G |
A |
6: 57,323,190 (GRCm38) |
T149I |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,805,656 (GRCm38) |
D288G |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 12,152,964 (GRCm38) |
Y167* |
probably null |
Het |
| Vmn2r103 |
T |
A |
17: 19,795,076 (GRCm38) |
S493T |
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,227,294 (GRCm38) |
M423L |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,964,282 (GRCm38) |
F3244L |
probably damaging |
Het |
| Zfp119b |
A |
T |
17: 55,939,642 (GRCm38) |
D149E |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,473,308 (GRCm38) |
Y103C |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,123,216 (GRCm38) |
T930I |
probably benign |
Het |
|
| Other mutations in Pkd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Pkd1
|
APN |
17 |
24,580,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00503:Pkd1
|
APN |
17 |
24,565,427 (GRCm38) |
missense |
probably benign |
|
|
IGL00549:Pkd1
|
APN |
17 |
24,572,761 (GRCm38) |
missense |
probably benign |
|
|
IGL00573:Pkd1
|
APN |
17 |
24,594,530 (GRCm38) |
nonsense |
probably null |
|
|
IGL00924:Pkd1
|
APN |
17 |
24,571,627 (GRCm38) |
nonsense |
probably null |
|
|
IGL01319:Pkd1
|
APN |
17 |
24,587,919 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01326:Pkd1
|
APN |
17 |
24,576,174 (GRCm38) |
nonsense |
probably null |
|
|
IGL01457:Pkd1
|
APN |
17 |
24,594,821 (GRCm38) |
splice site |
probably null |
|
|
IGL01541:Pkd1
|
APN |
17 |
24,586,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01575:Pkd1
|
APN |
17 |
24,573,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01606:Pkd1
|
APN |
17 |
24,576,523 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01642:Pkd1
|
APN |
17 |
24,581,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01888:Pkd1
|
APN |
17 |
24,585,815 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01940:Pkd1
|
APN |
17 |
24,579,746 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL01958:Pkd1
|
APN |
17 |
24,580,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02005:Pkd1
|
APN |
17 |
24,586,004 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02121:Pkd1
|
APN |
17 |
24,575,927 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02148:Pkd1
|
APN |
17 |
24,579,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02409:Pkd1
|
APN |
17 |
24,573,623 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02442:Pkd1
|
APN |
17 |
24,565,226 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02498:Pkd1
|
APN |
17 |
24,585,779 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02501:Pkd1
|
APN |
17 |
24,569,699 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02551:Pkd1
|
APN |
17 |
24,573,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02635:Pkd1
|
APN |
17 |
24,572,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02673:Pkd1
|
APN |
17 |
24,571,283 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL02808:Pkd1
|
APN |
17 |
24,593,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02816:Pkd1
|
APN |
17 |
24,594,515 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02863:Pkd1
|
APN |
17 |
24,569,752 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02927:Pkd1
|
APN |
17 |
24,575,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02961:Pkd1
|
APN |
17 |
24,578,115 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL03003:Pkd1
|
APN |
17 |
24,593,603 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03066:Pkd1
|
APN |
17 |
24,586,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03182:Pkd1
|
APN |
17 |
24,573,818 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03384:Pkd1
|
APN |
17 |
24,565,897 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03404:Pkd1
|
APN |
17 |
24,564,406 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT1430001:Pkd1
|
UTSW |
17 |
24,569,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4494001:Pkd1
|
UTSW |
17 |
24,577,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Pkd1
|
UTSW |
17 |
24,574,029 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0017:Pkd1
|
UTSW |
17 |
24,578,539 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0017:Pkd1
|
UTSW |
17 |
24,578,539 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0022:Pkd1
|
UTSW |
17 |
24,594,819 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0022:Pkd1
|
UTSW |
17 |
24,594,819 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0058:Pkd1
|
UTSW |
17 |
24,564,703 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0058:Pkd1
|
UTSW |
17 |
24,564,703 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0085:Pkd1
|
UTSW |
17 |
24,586,223 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0094:Pkd1
|
UTSW |
17 |
24,581,276 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0094:Pkd1
|
UTSW |
17 |
24,581,276 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0135:Pkd1
|
UTSW |
17 |
24,565,071 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0304:Pkd1
|
UTSW |
17 |
24,585,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0427:Pkd1
|
UTSW |
17 |
24,593,502 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0502:Pkd1
|
UTSW |
17 |
24,574,792 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0518:Pkd1
|
UTSW |
17 |
24,595,219 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0521:Pkd1
|
UTSW |
17 |
24,595,219 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0544:Pkd1
|
UTSW |
17 |
24,585,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0546:Pkd1
|
UTSW |
17 |
24,580,138 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0626:Pkd1
|
UTSW |
17 |
24,575,575 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0648:Pkd1
|
UTSW |
17 |
24,594,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1138:Pkd1
|
UTSW |
17 |
24,586,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1302:Pkd1
|
UTSW |
17 |
24,568,236 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1306:Pkd1
|
UTSW |
17 |
24,573,172 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1349:Pkd1
|
UTSW |
17 |
24,575,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1372:Pkd1
|
UTSW |
17 |
24,575,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1437:Pkd1
|
UTSW |
17 |
24,595,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1515:Pkd1
|
UTSW |
17 |
24,594,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1605:Pkd1
|
UTSW |
17 |
24,577,526 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1622:Pkd1
|
UTSW |
17 |
24,581,640 (GRCm38) |
missense |
probably benign |
|
|
R1623:Pkd1
|
UTSW |
17 |
24,578,269 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1726:Pkd1
|
UTSW |
17 |
24,564,176 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1756:Pkd1
|
UTSW |
17 |
24,594,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1780:Pkd1
|
UTSW |
17 |
24,581,569 (GRCm38) |
missense |
probably benign |
|
|
R1785:Pkd1
|
UTSW |
17 |
24,591,099 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1829:Pkd1
|
UTSW |
17 |
24,565,584 (GRCm38) |
missense |
probably benign |
|
|
R1869:Pkd1
|
UTSW |
17 |
24,594,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1920:Pkd1
|
UTSW |
17 |
24,595,157 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1922:Pkd1
|
UTSW |
17 |
24,595,157 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1987:Pkd1
|
UTSW |
17 |
24,576,592 (GRCm38) |
splice site |
probably null |
|
|
R1988:Pkd1
|
UTSW |
17 |
24,576,592 (GRCm38) |
splice site |
probably null |
|
|
R1998:Pkd1
|
UTSW |
17 |
24,573,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2007:Pkd1
|
UTSW |
17 |
24,579,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2019:Pkd1
|
UTSW |
17 |
24,568,684 (GRCm38) |
nonsense |
probably null |
|
|
R2054:Pkd1
|
UTSW |
17 |
24,574,796 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2061:Pkd1
|
UTSW |
17 |
24,569,914 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2196:Pkd1
|
UTSW |
17 |
24,580,072 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R2203:Pkd1
|
UTSW |
17 |
24,580,889 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2301:Pkd1
|
UTSW |
17 |
24,574,612 (GRCm38) |
missense |
probably benign |
|
|
R2655:Pkd1
|
UTSW |
17 |
24,576,490 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2860:Pkd1
|
UTSW |
17 |
24,565,446 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2861:Pkd1
|
UTSW |
17 |
24,565,446 (GRCm38) |
missense |
probably benign |
0.43 |
|
R3000:Pkd1
|
UTSW |
17 |
24,594,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3150:Pkd1
|
UTSW |
17 |
24,579,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3747:Pkd1
|
UTSW |
17 |
24,591,461 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R3812:Pkd1
|
UTSW |
17 |
24,565,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3859:Pkd1
|
UTSW |
17 |
24,578,092 (GRCm38) |
splice site |
probably benign |
|
|
R3893:Pkd1
|
UTSW |
17 |
24,572,110 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3947:Pkd1
|
UTSW |
17 |
24,578,037 (GRCm38) |
splice site |
probably benign |
|
|
R3949:Pkd1
|
UTSW |
17 |
24,578,037 (GRCm38) |
splice site |
probably benign |
|
|
R4176:Pkd1
|
UTSW |
17 |
24,587,997 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4199:Pkd1
|
UTSW |
17 |
24,570,030 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4225:Pkd1
|
UTSW |
17 |
24,593,523 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4439:Pkd1
|
UTSW |
17 |
24,585,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4476:Pkd1
|
UTSW |
17 |
24,576,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4716:Pkd1
|
UTSW |
17 |
24,576,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Pkd1
|
UTSW |
17 |
24,578,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4817:Pkd1
|
UTSW |
17 |
24,565,374 (GRCm38) |
splice site |
probably null |
|
|
R4903:Pkd1
|
UTSW |
17 |
24,572,002 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4910:Pkd1
|
UTSW |
17 |
24,572,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Pkd1
|
UTSW |
17 |
24,586,068 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4966:Pkd1
|
UTSW |
17 |
24,586,068 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5040:Pkd1
|
UTSW |
17 |
24,571,260 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5042:Pkd1
|
UTSW |
17 |
24,569,887 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5088:Pkd1
|
UTSW |
17 |
24,590,838 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5121:Pkd1
|
UTSW |
17 |
24,573,463 (GRCm38) |
missense |
probably benign |
|
|
R5296:Pkd1
|
UTSW |
17 |
24,576,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5338:Pkd1
|
UTSW |
17 |
24,594,536 (GRCm38) |
missense |
probably benign |
|
|
R5356:Pkd1
|
UTSW |
17 |
24,593,577 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5357:Pkd1
|
UTSW |
17 |
24,565,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5363:Pkd1
|
UTSW |
17 |
24,565,073 (GRCm38) |
missense |
probably benign |
|
|
R5383:Pkd1
|
UTSW |
17 |
24,574,375 (GRCm38) |
missense |
probably benign |
|
|
R5622:Pkd1
|
UTSW |
17 |
24,574,040 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5651:Pkd1
|
UTSW |
17 |
24,591,387 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5664:Pkd1
|
UTSW |
17 |
24,569,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5723:Pkd1
|
UTSW |
17 |
24,565,523 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5797:Pkd1
|
UTSW |
17 |
24,592,641 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5838:Pkd1
|
UTSW |
17 |
24,580,212 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5866:Pkd1
|
UTSW |
17 |
24,580,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5873:Pkd1
|
UTSW |
17 |
24,569,830 (GRCm38) |
missense |
probably benign |
|
|
R5906:Pkd1
|
UTSW |
17 |
24,572,920 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6047:Pkd1
|
UTSW |
17 |
24,595,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6076:Pkd1
|
UTSW |
17 |
24,581,030 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6151:Pkd1
|
UTSW |
17 |
24,575,606 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6252:Pkd1
|
UTSW |
17 |
24,581,226 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6341:Pkd1
|
UTSW |
17 |
24,580,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6540:Pkd1
|
UTSW |
17 |
24,575,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6732:Pkd1
|
UTSW |
17 |
24,569,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6836:Pkd1
|
UTSW |
17 |
24,581,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6856:Pkd1
|
UTSW |
17 |
24,573,493 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6865:Pkd1
|
UTSW |
17 |
24,576,487 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6999:Pkd1
|
UTSW |
17 |
24,578,501 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7077:Pkd1
|
UTSW |
17 |
24,591,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7123:Pkd1
|
UTSW |
17 |
24,594,768 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7134:Pkd1
|
UTSW |
17 |
24,594,112 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7210:Pkd1
|
UTSW |
17 |
24,575,866 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7323:Pkd1
|
UTSW |
17 |
24,575,051 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7380:Pkd1
|
UTSW |
17 |
24,581,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7407:Pkd1
|
UTSW |
17 |
24,594,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7410:Pkd1
|
UTSW |
17 |
24,575,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7492:Pkd1
|
UTSW |
17 |
24,569,741 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7517:Pkd1
|
UTSW |
17 |
24,580,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7543:Pkd1
|
UTSW |
17 |
24,595,253 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7560:Pkd1
|
UTSW |
17 |
24,573,631 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7615:Pkd1
|
UTSW |
17 |
24,593,502 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7714:Pkd1
|
UTSW |
17 |
24,550,276 (GRCm38) |
missense |
unknown |
|
|
R7718:Pkd1
|
UTSW |
17 |
24,586,500 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7731:Pkd1
|
UTSW |
17 |
24,573,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7849:Pkd1
|
UTSW |
17 |
24,586,200 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7859:Pkd1
|
UTSW |
17 |
24,571,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7866:Pkd1
|
UTSW |
17 |
24,590,907 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7915:Pkd1
|
UTSW |
17 |
24,592,656 (GRCm38) |
nonsense |
probably null |
|
|
R7991:Pkd1
|
UTSW |
17 |
24,572,621 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8050:Pkd1
|
UTSW |
17 |
24,565,643 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8086:Pkd1
|
UTSW |
17 |
24,581,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8312:Pkd1
|
UTSW |
17 |
24,567,128 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8385:Pkd1
|
UTSW |
17 |
24,575,728 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8393:Pkd1
|
UTSW |
17 |
24,572,647 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8552:Pkd1
|
UTSW |
17 |
24,591,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8753:Pkd1
|
UTSW |
17 |
24,574,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8822:Pkd1
|
UTSW |
17 |
24,565,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8855:Pkd1
|
UTSW |
17 |
24,573,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8866:Pkd1
|
UTSW |
17 |
24,573,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8867:Pkd1
|
UTSW |
17 |
24,573,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8960:Pkd1
|
UTSW |
17 |
24,576,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8966:Pkd1
|
UTSW |
17 |
24,575,777 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9004:Pkd1
|
UTSW |
17 |
24,580,447 (GRCm38) |
missense |
probably benign |
|
|
R9015:Pkd1
|
UTSW |
17 |
24,565,662 (GRCm38) |
nonsense |
probably null |
|
|
R9069:Pkd1
|
UTSW |
17 |
24,573,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9092:Pkd1
|
UTSW |
17 |
24,569,373 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9135:Pkd1
|
UTSW |
17 |
24,572,002 (GRCm38) |
missense |
|
|
|
R9307:Pkd1
|
UTSW |
17 |
24,550,477 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9312:Pkd1
|
UTSW |
17 |
24,578,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9313:Pkd1
|
UTSW |
17 |
24,594,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9380:Pkd1
|
UTSW |
17 |
24,550,288 (GRCm38) |
missense |
unknown |
|
|
R9383:Pkd1
|
UTSW |
17 |
24,575,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9531:Pkd1
|
UTSW |
17 |
24,573,140 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9617:Pkd1
|
UTSW |
17 |
24,581,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9691:Pkd1
|
UTSW |
17 |
24,577,838 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9792:Pkd1
|
UTSW |
17 |
24,581,198 (GRCm38) |
missense |
probably benign |
|
|
R9793:Pkd1
|
UTSW |
17 |
24,581,198 (GRCm38) |
missense |
probably benign |
|
|
X0024:Pkd1
|
UTSW |
17 |
24,591,392 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
X0061:Pkd1
|
UTSW |
17 |
24,594,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Pkd1
|
UTSW |
17 |
24,586,164 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1088:Pkd1
|
UTSW |
17 |
24,565,605 (GRCm38) |
missense |
probably benign |
0.44 |
|
Z1177:Pkd1
|
UTSW |
17 |
24,575,491 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCTACATCTTCACACTCAC -3'
(R):5'- GTACAACCACAGCTAGGCTC -3'
Sequencing Primer
(F):5'- TCACTGTGCTGGGCCACTC -3'
(R):5'- GCTAGGCTCACCACAAAAAGGG -3'
|
| Posted On |
2016-07-14 |
Incidental Mutation