Incidental Mutation 'R1959:Pkd1l2'
| ID |
218165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1l2
|
| Ensembl Gene |
ENSMUSG00000034416 |
| Gene Name |
polycystic kidney disease 1 like 2 |
| Synonyms |
1700126L06Rik |
| MMRRC Submission |
039973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1959 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
117722418-117809188 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 117769970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098375]
[ENSMUST00000109093]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098375
|
| SMART Domains |
Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CLECT
|
26 |
152 |
1.56e-21 |
SMART |
|
Pfam:Gal_Lectin
|
168 |
250 |
1.8e-18 |
PFAM |
|
PKD
|
260 |
341 |
3.84e-1 |
SMART |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
Pfam:REJ
|
510 |
886 |
1.8e-13 |
PFAM |
|
low complexity region
|
1050 |
1060 |
N/A |
INTRINSIC |
|
GPS
|
1278 |
1327 |
1.61e-11 |
SMART |
|
transmembrane domain
|
1346 |
1365 |
N/A |
INTRINSIC |
|
LH2
|
1390 |
1509 |
6.05e-13 |
SMART |
|
transmembrane domain
|
1552 |
1574 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1589 |
1611 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1815 |
1837 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1852 |
1874 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1940 |
1962 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1980 |
2403 |
6.4e-107 |
PFAM |
|
Pfam:Ion_trans
|
2187 |
2396 |
2.5e-12 |
PFAM |
|
low complexity region
|
2441 |
2458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109093
|
| SMART Domains |
Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CLECT
|
26 |
152 |
1.56e-21 |
SMART |
|
Pfam:Gal_Lectin
|
168 |
250 |
6.9e-19 |
PFAM |
|
PKD
|
260 |
341 |
3.84e-1 |
SMART |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
Pfam:REJ
|
519 |
883 |
7e-11 |
PFAM |
|
low complexity region
|
1051 |
1061 |
N/A |
INTRINSIC |
|
GPS
|
1279 |
1328 |
1.61e-11 |
SMART |
|
transmembrane domain
|
1347 |
1366 |
N/A |
INTRINSIC |
|
LH2
|
1391 |
1510 |
6.05e-13 |
SMART |
|
transmembrane domain
|
1553 |
1575 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1590 |
1612 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1816 |
1838 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1853 |
1875 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1941 |
1963 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1981 |
2403 |
5.9e-106 |
PFAM |
|
Pfam:Ion_trans
|
2138 |
2409 |
3.4e-12 |
PFAM |
|
low complexity region
|
2442 |
2459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153724
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
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 protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,214,257 (GRCm39) |
Y191H |
probably damaging |
Het |
| Aco1 |
T |
C |
4: 40,167,193 (GRCm39) |
|
probably null |
Het |
| Adap1 |
A |
G |
5: 139,259,096 (GRCm39) |
Y364H |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,073,738 (GRCm39) |
F209S |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,270,993 (GRCm39) |
D883E |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,475,335 (GRCm39) |
R1381S |
probably benign |
Het |
| Aoah |
A |
G |
13: 20,978,564 (GRCm39) |
M1V |
probably null |
Het |
| Arap1 |
C |
A |
7: 101,022,222 (GRCm39) |
A8E |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,136,255 (GRCm39) |
F319S |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,515,782 (GRCm39) |
I480S |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,570,924 (GRCm39) |
V784E |
possibly damaging |
Het |
| Card9 |
T |
A |
2: 26,244,885 (GRCm39) |
|
probably null |
Het |
| Cdk18 |
A |
G |
1: 132,045,559 (GRCm39) |
I238T |
possibly damaging |
Het |
| Clec12a |
A |
C |
6: 129,327,444 (GRCm39) |
T21P |
possibly damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,774 (GRCm39) |
I70F |
probably benign |
Het |
| Cspg5 |
G |
A |
9: 110,080,094 (GRCm39) |
V340M |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,937,902 (GRCm39) |
S307N |
possibly damaging |
Het |
| Cyp26c1 |
T |
A |
19: 37,675,825 (GRCm39) |
F230I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,723 (GRCm39) |
M150V |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,176,080 (GRCm39) |
Y190C |
probably damaging |
Het |
| Det1 |
A |
G |
7: 78,493,191 (GRCm39) |
V271A |
probably benign |
Het |
| Dgkd |
C |
A |
1: 87,857,549 (GRCm39) |
P754T |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,806 (GRCm39) |
S649G |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,653,843 (GRCm39) |
I62T |
possibly damaging |
Het |
| Dmgdh |
A |
G |
13: 93,857,067 (GRCm39) |
M724V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,724,142 (GRCm39) |
S108P |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,760,797 (GRCm39) |
K495M |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,036,202 (GRCm39) |
Y225H |
probably damaging |
Het |
| Emx1 |
G |
A |
6: 85,180,916 (GRCm39) |
R211K |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,100,852 (GRCm39) |
|
probably null |
Het |
| Fbxo27 |
G |
A |
7: 28,397,797 (GRCm39) |
C277Y |
possibly damaging |
Het |
| Fcrl1 |
T |
C |
3: 87,283,827 (GRCm39) |
I9T |
possibly damaging |
Het |
| Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,698,437 (GRCm39) |
V327D |
possibly damaging |
Het |
| Flnb |
C |
T |
14: 7,884,735 (GRCm38) |
Q445* |
probably null |
Het |
| Flrt2 |
G |
A |
12: 95,747,074 (GRCm39) |
V471I |
probably benign |
Het |
| Frmd4a |
G |
A |
2: 4,539,997 (GRCm39) |
V210M |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,894 (GRCm39) |
K5876E |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,656,443 (GRCm39) |
L209P |
probably damaging |
Het |
| Gata5 |
A |
T |
2: 179,968,729 (GRCm39) |
S382T |
possibly damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,425 (GRCm39) |
V194L |
probably damaging |
Het |
| Gm10803 |
T |
G |
2: 93,394,288 (GRCm39) |
V20G |
unknown |
Het |
| Gm44511 |
T |
G |
6: 128,797,234 (GRCm39) |
T52P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,672,952 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Gpr15 |
T |
A |
16: 58,538,370 (GRCm39) |
I240L |
probably benign |
Het |
| Hivep2 |
A |
T |
10: 14,008,453 (GRCm39) |
I1684F |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,525,427 (GRCm39) |
T3366A |
probably benign |
Het |
| Hnmt |
A |
G |
2: 23,893,894 (GRCm39) |
V200A |
possibly damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,774 (GRCm39) |
H237L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,206 (GRCm39) |
P4033S |
probably damaging |
Het |
| Ift70b |
C |
T |
2: 75,767,443 (GRCm39) |
E437K |
probably benign |
Het |
| Irf9 |
T |
A |
14: 55,845,174 (GRCm39) |
S297T |
possibly damaging |
Het |
| Kdm3b |
T |
C |
18: 34,945,448 (GRCm39) |
V753A |
possibly damaging |
Het |
| Kif21a |
G |
A |
15: 90,855,051 (GRCm39) |
A703V |
probably damaging |
Het |
| Kif27 |
T |
G |
13: 58,440,937 (GRCm39) |
R1159S |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,373 (GRCm39) |
V9A |
unknown |
Het |
| Lama2 |
G |
T |
10: 27,298,614 (GRCm39) |
P161T |
probably damaging |
Het |
| Ltbp4 |
G |
A |
7: 27,028,443 (GRCm39) |
P273L |
unknown |
Het |
| Lvrn |
T |
A |
18: 47,027,784 (GRCm39) |
S866R |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,189,805 (GRCm39) |
Y1035H |
probably damaging |
Het |
| Mertk |
T |
A |
2: 128,601,010 (GRCm39) |
N331K |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,437 (GRCm39) |
F211Y |
probably benign |
Het |
| Mpeg1 |
G |
A |
19: 12,440,275 (GRCm39) |
V578M |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,453,764 (GRCm39) |
S183T |
possibly damaging |
Het |
| Mrto4 |
A |
T |
4: 139,076,949 (GRCm39) |
I56N |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,416,374 (GRCm39) |
C3107R |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,230,476 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,330,737 (GRCm39) |
E553G |
probably damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
C |
13: 78,337,935 (GRCm39) |
T237A |
probably damaging |
Het |
| Nup205 |
C |
A |
6: 35,210,301 (GRCm39) |
Q1621K |
probably benign |
Het |
| Nup50l |
A |
G |
6: 96,142,250 (GRCm39) |
S265P |
possibly damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,231,026 (GRCm39) |
S448C |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,296,638 (GRCm39) |
C498S |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,181,664 (GRCm39) |
T1119I |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,639 (GRCm39) |
F71L |
probably benign |
Het |
| Or2ag15 |
T |
C |
7: 106,340,601 (GRCm39) |
E180G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,717 (GRCm39) |
D294E |
possibly damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,963 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,545 (GRCm39) |
L212P |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,471 (GRCm39) |
K159M |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,634 (GRCm39) |
S148P |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,369 (GRCm39) |
Y788N |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,410,782 (GRCm39) |
D1870G |
unknown |
Het |
| Pde6g |
A |
G |
11: 120,338,962 (GRCm39) |
L76P |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,073 (GRCm39) |
Y593N |
probably damaging |
Het |
| Pfas |
C |
T |
11: 68,885,110 (GRCm39) |
G16R |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,983 (GRCm39) |
T316I |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,530,788 (GRCm39) |
I489F |
probably damaging |
Het |
| Rere |
T |
G |
4: 150,553,247 (GRCm39) |
H146Q |
probably benign |
Het |
| Rundc1 |
A |
T |
11: 101,322,322 (GRCm39) |
Q272L |
probably damaging |
Het |
| Scml4 |
T |
C |
10: 42,832,017 (GRCm39) |
L305P |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,320,144 (GRCm39) |
H1431Q |
probably benign |
Het |
| Serpina1a |
G |
A |
12: 103,820,059 (GRCm39) |
Q373* |
probably null |
Het |
| Shank1 |
A |
T |
7: 43,974,801 (GRCm39) |
N377I |
unknown |
Het |
| Shc2 |
T |
C |
10: 79,462,625 (GRCm39) |
|
probably null |
Het |
| Slc22a29 |
C |
A |
19: 8,146,557 (GRCm39) |
R415M |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,368,002 (GRCm39) |
I589F |
probably damaging |
Het |
| Smim8 |
C |
T |
4: 34,771,316 (GRCm39) |
R26Q |
probably damaging |
Het |
| Smox |
C |
A |
2: 131,362,384 (GRCm39) |
A221D |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,819,831 (GRCm39) |
S62P |
possibly damaging |
Het |
| Spg21 |
A |
C |
9: 65,391,774 (GRCm39) |
K240N |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,113,153 (GRCm39) |
V599M |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,801,121 (GRCm39) |
H1112Q |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,011,623 (GRCm39) |
I58T |
possibly damaging |
Het |
| Tbc1d2 |
T |
G |
4: 46,606,419 (GRCm39) |
Y842S |
probably benign |
Het |
| Tctn1 |
A |
T |
5: 122,379,903 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
T |
C |
X: 41,916,078 (GRCm39) |
D402G |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,119 (GRCm39) |
V400A |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,886,803 (GRCm39) |
|
probably null |
Het |
| Traf7 |
C |
A |
17: 24,732,255 (GRCm39) |
G191C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,879,978 (GRCm39) |
L661Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,580,967 (GRCm39) |
I23309V |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,619,881 (GRCm39) |
K199E |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,683 (GRCm39) |
F10S |
probably damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,694,897 (GRCm39) |
T459K |
probably benign |
Het |
| Vps13a |
T |
G |
19: 16,655,302 (GRCm39) |
S1909R |
possibly damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,420,941 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,219,800 (GRCm39) |
H516R |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,208 (GRCm39) |
I648M |
probably damaging |
Het |
| Zfat |
G |
C |
15: 68,018,392 (GRCm39) |
P974R |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,259,158 (GRCm39) |
I1601K |
probably benign |
Het |
| Zfp239 |
A |
G |
6: 117,848,778 (GRCm39) |
K172R |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,736,722 (GRCm39) |
G971D |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,563 (GRCm39) |
I499F |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,795,314 (GRCm39) |
T449A |
possibly damaging |
Het |
| Zfp938 |
C |
T |
10: 82,061,465 (GRCm39) |
G385D |
probably damaging |
Het |
| Zfp959 |
T |
G |
17: 56,204,404 (GRCm39) |
V147G |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,892,270 (GRCm39) |
C649S |
probably damaging |
Het |
|
| Other mutations in Pkd1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Pkd1l2
|
APN |
8 |
117,786,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01353:Pkd1l2
|
APN |
8 |
117,784,182 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01362:Pkd1l2
|
APN |
8 |
117,748,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01486:Pkd1l2
|
APN |
8 |
117,786,331 (GRCm39) |
missense |
probably benign |
|
|
IGL01672:Pkd1l2
|
APN |
8 |
117,807,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01696:Pkd1l2
|
APN |
8 |
117,783,126 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01819:Pkd1l2
|
APN |
8 |
117,724,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Pkd1l2
|
APN |
8 |
117,787,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01981:Pkd1l2
|
APN |
8 |
117,743,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02066:Pkd1l2
|
APN |
8 |
117,736,303 (GRCm39) |
splice site |
probably benign |
|
|
IGL02381:Pkd1l2
|
APN |
8 |
117,762,539 (GRCm39) |
splice site |
probably benign |
|
|
IGL02416:Pkd1l2
|
APN |
8 |
117,767,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02736:Pkd1l2
|
APN |
8 |
117,767,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02828:Pkd1l2
|
APN |
8 |
117,756,298 (GRCm39) |
missense |
probably benign |
|
|
IGL02861:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02862:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02883:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02884:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02894:Pkd1l2
|
APN |
8 |
117,740,630 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02900:Pkd1l2
|
APN |
8 |
117,750,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02901:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02929:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02941:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02957:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02969:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03028:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03059:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03065:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03066:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03083:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03084:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03124:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03162:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03165:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03335:Pkd1l2
|
APN |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03357:Pkd1l2
|
APN |
8 |
117,722,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Pkd1l2
|
UTSW |
8 |
117,792,484 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4453001:Pkd1l2
|
UTSW |
8 |
117,748,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Pkd1l2
|
UTSW |
8 |
117,776,787 (GRCm39) |
splice site |
probably benign |
|
|
R0309:Pkd1l2
|
UTSW |
8 |
117,724,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0365:Pkd1l2
|
UTSW |
8 |
117,748,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0526:Pkd1l2
|
UTSW |
8 |
117,808,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Pkd1l2
|
UTSW |
8 |
117,808,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0716:Pkd1l2
|
UTSW |
8 |
117,777,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Pkd1l2
|
UTSW |
8 |
117,802,916 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0893:Pkd1l2
|
UTSW |
8 |
117,771,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1256:Pkd1l2
|
UTSW |
8 |
117,746,282 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1391:Pkd1l2
|
UTSW |
8 |
117,781,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1474:Pkd1l2
|
UTSW |
8 |
117,792,236 (GRCm39) |
splice site |
probably benign |
|
|
R1491:Pkd1l2
|
UTSW |
8 |
117,755,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Pkd1l2
|
UTSW |
8 |
117,772,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1521:Pkd1l2
|
UTSW |
8 |
117,792,239 (GRCm39) |
splice site |
probably null |
|
|
R1544:Pkd1l2
|
UTSW |
8 |
117,764,974 (GRCm39) |
frame shift |
probably null |
|
|
R1558:Pkd1l2
|
UTSW |
8 |
117,808,991 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1673:Pkd1l2
|
UTSW |
8 |
117,767,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1691:Pkd1l2
|
UTSW |
8 |
117,783,158 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1754:Pkd1l2
|
UTSW |
8 |
117,757,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1857:Pkd1l2
|
UTSW |
8 |
117,767,408 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1939:Pkd1l2
|
UTSW |
8 |
117,772,921 (GRCm39) |
nonsense |
probably null |
|
|
R1955:Pkd1l2
|
UTSW |
8 |
117,770,100 (GRCm39) |
missense |
probably benign |
|
|
R1957:Pkd1l2
|
UTSW |
8 |
117,757,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Pkd1l2
|
UTSW |
8 |
117,746,272 (GRCm39) |
missense |
probably benign |
|
|
R2046:Pkd1l2
|
UTSW |
8 |
117,726,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Pkd1l2
|
UTSW |
8 |
117,808,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2116:Pkd1l2
|
UTSW |
8 |
117,757,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2148:Pkd1l2
|
UTSW |
8 |
117,783,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2251:Pkd1l2
|
UTSW |
8 |
117,784,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Pkd1l2
|
UTSW |
8 |
117,784,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Pkd1l2
|
UTSW |
8 |
117,770,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2566:Pkd1l2
|
UTSW |
8 |
117,746,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Pkd1l2
|
UTSW |
8 |
117,764,903 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2872:Pkd1l2
|
UTSW |
8 |
117,764,903 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2985:Pkd1l2
|
UTSW |
8 |
117,792,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3055:Pkd1l2
|
UTSW |
8 |
117,795,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3436:Pkd1l2
|
UTSW |
8 |
117,767,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Pkd1l2
|
UTSW |
8 |
117,722,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4733:Pkd1l2
|
UTSW |
8 |
117,722,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4763:Pkd1l2
|
UTSW |
8 |
117,746,168 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4789:Pkd1l2
|
UTSW |
8 |
117,738,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4921:Pkd1l2
|
UTSW |
8 |
117,781,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4921:Pkd1l2
|
UTSW |
8 |
117,799,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4999:Pkd1l2
|
UTSW |
8 |
117,774,113 (GRCm39) |
splice site |
probably null |
|
|
R5057:Pkd1l2
|
UTSW |
8 |
117,781,747 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5209:Pkd1l2
|
UTSW |
8 |
117,783,181 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5241:Pkd1l2
|
UTSW |
8 |
117,761,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Pkd1l2
|
UTSW |
8 |
117,757,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5501:Pkd1l2
|
UTSW |
8 |
117,792,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5533:Pkd1l2
|
UTSW |
8 |
117,794,855 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5582:Pkd1l2
|
UTSW |
8 |
117,767,522 (GRCm39) |
nonsense |
probably null |
|
|
R5610:Pkd1l2
|
UTSW |
8 |
117,769,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5770:Pkd1l2
|
UTSW |
8 |
117,781,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Pkd1l2
|
UTSW |
8 |
117,792,485 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5867:Pkd1l2
|
UTSW |
8 |
117,781,750 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5881:Pkd1l2
|
UTSW |
8 |
117,724,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5906:Pkd1l2
|
UTSW |
8 |
117,756,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Pkd1l2
|
UTSW |
8 |
117,750,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6030:Pkd1l2
|
UTSW |
8 |
117,769,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Pkd1l2
|
UTSW |
8 |
117,769,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Pkd1l2
|
UTSW |
8 |
117,740,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Pkd1l2
|
UTSW |
8 |
117,809,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6216:Pkd1l2
|
UTSW |
8 |
117,808,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Pkd1l2
|
UTSW |
8 |
117,762,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6417:Pkd1l2
|
UTSW |
8 |
117,740,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Pkd1l2
|
UTSW |
8 |
117,740,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Pkd1l2
|
UTSW |
8 |
117,767,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6743:Pkd1l2
|
UTSW |
8 |
117,757,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Pkd1l2
|
UTSW |
8 |
117,740,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Pkd1l2
|
UTSW |
8 |
117,802,870 (GRCm39) |
nonsense |
probably null |
|
|
R7148:Pkd1l2
|
UTSW |
8 |
117,807,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7169:Pkd1l2
|
UTSW |
8 |
117,767,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7217:Pkd1l2
|
UTSW |
8 |
117,722,536 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7310:Pkd1l2
|
UTSW |
8 |
117,750,773 (GRCm39) |
missense |
probably benign |
|
|
R7382:Pkd1l2
|
UTSW |
8 |
117,781,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7397:Pkd1l2
|
UTSW |
8 |
117,762,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7408:Pkd1l2
|
UTSW |
8 |
117,755,218 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7437:Pkd1l2
|
UTSW |
8 |
117,757,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7492:Pkd1l2
|
UTSW |
8 |
117,794,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Pkd1l2
|
UTSW |
8 |
117,787,333 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7519:Pkd1l2
|
UTSW |
8 |
117,792,268 (GRCm39) |
missense |
probably benign |
|
|
R7590:Pkd1l2
|
UTSW |
8 |
117,807,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7623:Pkd1l2
|
UTSW |
8 |
117,756,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Pkd1l2
|
UTSW |
8 |
117,781,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7897:Pkd1l2
|
UTSW |
8 |
117,724,827 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7982:Pkd1l2
|
UTSW |
8 |
117,777,926 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8024:Pkd1l2
|
UTSW |
8 |
117,802,921 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8140:Pkd1l2
|
UTSW |
8 |
117,774,236 (GRCm39) |
missense |
probably benign |
|
|
R8145:Pkd1l2
|
UTSW |
8 |
117,781,742 (GRCm39) |
missense |
probably benign |
|
|
R8228:Pkd1l2
|
UTSW |
8 |
117,792,514 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8252:Pkd1l2
|
UTSW |
8 |
117,767,472 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8500:Pkd1l2
|
UTSW |
8 |
117,774,302 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8732:Pkd1l2
|
UTSW |
8 |
117,792,311 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8809:Pkd1l2
|
UTSW |
8 |
117,726,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Pkd1l2
|
UTSW |
8 |
117,740,615 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8961:Pkd1l2
|
UTSW |
8 |
117,726,717 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8985:Pkd1l2
|
UTSW |
8 |
117,764,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9008:Pkd1l2
|
UTSW |
8 |
117,769,037 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9091:Pkd1l2
|
UTSW |
8 |
117,759,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Pkd1l2
|
UTSW |
8 |
117,781,748 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9160:Pkd1l2
|
UTSW |
8 |
117,767,408 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9249:Pkd1l2
|
UTSW |
8 |
117,746,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9270:Pkd1l2
|
UTSW |
8 |
117,759,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9735:Pkd1l2
|
UTSW |
8 |
117,772,820 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Pkd1l2
|
UTSW |
8 |
117,781,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pkd1l2
|
UTSW |
8 |
117,757,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTGTGAATGGCCATATATGC -3'
(R):5'- CTGCATCCACCTCATAGAGC -3'
Sequencing Primer
(F):5'- GGCCATATATGCATGGTTTAAAGCTG -3'
(R):5'- TCATAGAGCGAGGGCCAGTC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation