Incidental Mutation 'R0309:Pkd1l2'
| ID |
65224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd1l2
|
| Ensembl Gene |
ENSMUSG00000034416 |
| Gene Name |
polycystic kidney disease 1 like 2 |
| Synonyms |
1700126L06Rik |
| MMRRC Submission |
038519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0309 (G1)
|
| Quality Score |
87 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117722418-117809188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117724315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 2396
(V2396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040484]
[ENSMUST00000098375]
[ENSMUST00000109093]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040484
|
| SMART Domains |
Protein: ENSMUSP00000037131
Gene: ENSMUSG00000034424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCV_H
|
48 |
168 |
1.2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098375
AA Change: V2395A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: V2395A
| 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 damaging
Transcript: ENSMUST00000109093
AA Change: V2396A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: V2396A
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.6%
- 10x: 94.3%
- 20x: 86.4%
|
| Validation Efficiency |
98% (125/127) |
| 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: 126 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,266,271 (GRCm39) |
D133G |
possibly damaging |
Het |
| Abcb4 |
A |
C |
5: 8,989,835 (GRCm39) |
D796A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,496,896 (GRCm39) |
V147E |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,877,001 (GRCm39) |
T534P |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,336,959 (GRCm39) |
T249A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,859 (GRCm39) |
I381N |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,119,038 (GRCm39) |
D3515G |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,922,706 (GRCm39) |
V249A |
probably benign |
Het |
| Ank |
A |
G |
15: 27,567,658 (GRCm39) |
T294A |
possibly damaging |
Het |
| Ank1 |
A |
T |
8: 23,594,825 (GRCm39) |
H204L |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,468,331 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,208,424 (GRCm39) |
S15T |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,410,249 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,062,554 (GRCm39) |
E651G |
probably damaging |
Het |
| B3gnt2 |
A |
T |
11: 22,786,860 (GRCm39) |
F109L |
probably damaging |
Het |
| Bpifb4 |
T |
C |
2: 153,801,603 (GRCm39) |
F575L |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,920,043 (GRCm39) |
W75R |
probably damaging |
Het |
| Calr |
C |
A |
8: 85,569,660 (GRCm39) |
K322N |
probably benign |
Het |
| Ccdc188 |
T |
C |
16: 18,037,169 (GRCm39) |
S247P |
possibly damaging |
Het |
| Cdr1 |
T |
A |
X: 60,228,908 (GRCm39) |
D86V |
unknown |
Het |
| Cep97 |
C |
T |
16: 55,745,421 (GRCm39) |
V48I |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,681,399 (GRCm39) |
C6S |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,247,844 (GRCm39) |
D920N |
probably damaging |
Het |
| Clk1 |
T |
C |
1: 58,452,192 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,905,250 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,507,293 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,659,801 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
A |
7: 118,128,940 (GRCm39) |
I32F |
possibly damaging |
Het |
| Cox6a2 |
A |
T |
7: 127,805,107 (GRCm39) |
F59I |
probably damaging |
Het |
| Cpq |
A |
G |
15: 33,594,297 (GRCm39) |
D436G |
probably damaging |
Het |
| Ctso |
G |
A |
3: 81,852,168 (GRCm39) |
|
probably null |
Het |
| Cxadr |
A |
T |
16: 78,131,836 (GRCm39) |
H274L |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,495 (GRCm39) |
C367S |
possibly damaging |
Het |
| Cyp2c70 |
T |
G |
19: 40,149,115 (GRCm39) |
M344L |
possibly damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,871 (GRCm39) |
V77I |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,310 (GRCm39) |
Y432H |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
| Dnah7a |
C |
G |
1: 53,444,849 (GRCm39) |
D3952H |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,917,798 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
C |
A |
1: 132,384,602 (GRCm39) |
|
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,303,469 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,598 (GRCm39) |
E287G |
possibly damaging |
Het |
| Epgn |
A |
G |
5: 91,180,073 (GRCm39) |
T87A |
probably benign |
Het |
| Erc2 |
A |
C |
14: 27,863,182 (GRCm39) |
E803A |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,446,011 (GRCm39) |
*454W |
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,849,836 (GRCm39) |
D179G |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,173 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
C |
A |
14: 101,967,129 (GRCm39) |
|
probably benign |
Het |
| Gsta3 |
C |
T |
1: 21,335,118 (GRCm39) |
P200S |
possibly damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,288,200 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,762 (GRCm39) |
K15E |
probably damaging |
Het |
| Kcnip2 |
T |
A |
19: 45,782,514 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,263,804 (GRCm39) |
V696A |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,107,587 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
T |
G |
14: 51,128,868 (GRCm39) |
H787P |
probably damaging |
Het |
| Klk14 |
A |
T |
7: 43,343,769 (GRCm39) |
T159S |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,117 (GRCm39) |
N16D |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,773,015 (GRCm39) |
N583S |
possibly damaging |
Het |
| Map3k4 |
TGCTGGCTTCAGGGCCACAGTCCGCTG |
TGCTG |
17: 12,489,902 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
G |
4: 118,303,235 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,472,592 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
C |
16: 34,732,667 (GRCm39) |
|
probably benign |
Het |
| Myof |
A |
T |
19: 37,969,714 (GRCm39) |
M316K |
probably benign |
Het |
| Nfib |
T |
A |
4: 82,214,974 (GRCm39) |
N543I |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,448,403 (GRCm39) |
S375P |
probably damaging |
Het |
| Nkrf |
T |
C |
X: 36,153,769 (GRCm39) |
Q171R |
probably damaging |
Het |
| Nmnat2 |
T |
A |
1: 152,952,747 (GRCm39) |
|
probably benign |
Het |
| Npffr2 |
G |
A |
5: 89,731,206 (GRCm39) |
E379K |
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,640,904 (GRCm39) |
|
probably benign |
Het |
| Nup98 |
A |
C |
7: 101,801,635 (GRCm39) |
D212E |
probably null |
Het |
| Nwd2 |
T |
C |
5: 63,964,561 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,912 (GRCm39) |
R451G |
possibly damaging |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,008 (GRCm39) |
D87G |
probably benign |
Het |
| Pabpc1 |
C |
T |
15: 36,597,737 (GRCm39) |
A551T |
possibly damaging |
Het |
| Pard3 |
A |
T |
8: 128,103,378 (GRCm39) |
|
probably benign |
Het |
| Pcdhb12 |
G |
T |
18: 37,569,174 (GRCm39) |
V107L |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,747,677 (GRCm39) |
V22D |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,877,207 (GRCm39) |
I167T |
probably damaging |
Het |
| Pphln1 |
A |
T |
15: 93,339,588 (GRCm39) |
H114L |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,756,687 (GRCm39) |
N444S |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,777,646 (GRCm39) |
T146I |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,369,891 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,140,128 (GRCm39) |
D26G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,729,042 (GRCm39) |
E495G |
probably damaging |
Het |
| Rab23 |
A |
C |
1: 33,773,942 (GRCm39) |
|
probably null |
Het |
| Ralgps1 |
C |
T |
2: 33,047,935 (GRCm39) |
M348I |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,315,690 (GRCm39) |
T2137A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,056,374 (GRCm39) |
G654V |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,269,020 (GRCm39) |
|
probably benign |
Het |
| Reg2 |
G |
A |
6: 78,383,169 (GRCm39) |
A39T |
possibly damaging |
Het |
| Sema4d |
C |
A |
13: 51,879,347 (GRCm39) |
V7F |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,354 (GRCm39) |
|
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,949,216 (GRCm39) |
|
probably null |
Het |
| Shisa9 |
G |
A |
16: 11,814,987 (GRCm39) |
V212M |
probably damaging |
Het |
| Shq1 |
G |
A |
6: 100,550,588 (GRCm39) |
P450L |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,018,196 (GRCm39) |
T872A |
probably benign |
Het |
| Sipa1l3 |
C |
T |
7: 29,047,775 (GRCm39) |
R1371Q |
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,796,064 (GRCm39) |
V246A |
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,022,985 (GRCm39) |
V386D |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,348,034 (GRCm39) |
T253S |
probably benign |
Het |
| Slc2a7 |
G |
A |
4: 150,242,528 (GRCm39) |
|
probably benign |
Het |
| Slc35a2 |
T |
A |
X: 7,755,901 (GRCm39) |
Y48N |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,344 (GRCm39) |
S413I |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,276,772 (GRCm39) |
T427A |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,270,023 (GRCm39) |
Y132C |
probably damaging |
Het |
| Stn1 |
G |
T |
19: 47,490,112 (GRCm39) |
H342N |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,165,667 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
A |
C |
6: 132,870,341 (GRCm39) |
K123T |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,440,168 (GRCm39) |
Q504* |
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,794,069 (GRCm39) |
C380Y |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,648,051 (GRCm39) |
V781E |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,860,740 (GRCm39) |
D1389G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,958,130 (GRCm39) |
F780I |
probably damaging |
Het |
| Tubb4a |
G |
T |
17: 57,388,182 (GRCm39) |
Y281* |
probably null |
Het |
| Txndc15 |
T |
C |
13: 55,872,395 (GRCm39) |
F261S |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,557,530 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
C |
3: 141,439,694 (GRCm39) |
V196L |
probably benign |
Het |
| Upf3a |
G |
A |
8: 13,845,500 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
T |
C |
6: 123,363,063 (GRCm39) |
K574E |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,536,853 (GRCm39) |
M275V |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,346,735 (GRCm39) |
|
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,276,182 (GRCm39) |
L505S |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,366,722 (GRCm39) |
I567T |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,897,558 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R1959:Pkd1l2
|
UTSW |
8 |
117,769,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GGTTGTCCTAAGAGAAAGCAGCCAG -3'
(R):5'- AGCATGGGGCTACTACCCTTAGAC -3'
Sequencing Primer
(F):5'- GCAGCCAGATGGAAAAAATGC -3'
(R):5'- ATGCTGAGCTGTAGACATGCC -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation