Incidental Mutation 'R4617:Pkd2l1'
ID |
351140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pkd2l1
|
Ensembl Gene |
ENSMUSG00000037578 |
Gene Name |
polycystic kidney disease 2-like 1 |
Synonyms |
PKD2L, polycystin-L, PCL, TRPP3, Pkdl |
MMRRC Submission |
041828-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R4617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44142573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 490
(A490S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
AlphaFold |
A2A259 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042026
AA Change: A490S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045675 Gene: ENSMUSG00000037578 AA Change: A490S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
145 |
567 |
1.3e-172 |
PFAM |
Pfam:Ion_trans
|
335 |
572 |
1.8e-30 |
PFAM |
low complexity region
|
592 |
598 |
N/A |
INTRINSIC |
SCOP:d2pvba_
|
616 |
676 |
2e-4 |
SMART |
PDB:4GIF|A
|
698 |
739 |
1e-17 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161357
|
Meta Mutation Damage Score |
0.4214 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (66/69) |
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 multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
Acaa1a |
T |
A |
9: 119,178,006 (GRCm39) |
S279R |
probably damaging |
Het |
Akr1cl |
A |
G |
1: 65,060,550 (GRCm39) |
C156R |
probably damaging |
Het |
Arhgap11a |
G |
A |
2: 113,664,423 (GRCm39) |
T620M |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,198 (GRCm39) |
I444T |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,394,913 (GRCm39) |
I760V |
probably benign |
Het |
Cdh26 |
G |
A |
2: 178,102,435 (GRCm39) |
|
probably benign |
Het |
Cpd |
A |
G |
11: 76,731,441 (GRCm39) |
L255P |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,144,845 (GRCm39) |
Y670H |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,620,643 (GRCm39) |
M458I |
probably benign |
Het |
Dot1l |
T |
C |
10: 80,620,918 (GRCm39) |
I563T |
probably damaging |
Het |
Egf |
A |
T |
3: 129,484,442 (GRCm39) |
S1001T |
probably benign |
Het |
Elfn1 |
A |
G |
5: 139,957,764 (GRCm39) |
Y256C |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,839,139 (GRCm39) |
T725I |
probably benign |
Het |
Fam168b |
A |
G |
1: 34,859,063 (GRCm39) |
V72A |
possibly damaging |
Het |
Fbxw20 |
C |
T |
9: 109,046,631 (GRCm39) |
S443N |
probably damaging |
Het |
Flacc1 |
A |
T |
1: 58,700,601 (GRCm39) |
D301E |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,747,003 (GRCm39) |
V447A |
possibly damaging |
Het |
Gm4846 |
A |
G |
1: 166,323,550 (GRCm39) |
S58P |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Lpcat2b |
T |
C |
5: 107,581,865 (GRCm39) |
L398P |
possibly damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrpl38 |
T |
C |
11: 116,023,278 (GRCm39) |
D325G |
probably damaging |
Het |
Mtmr12 |
A |
G |
15: 12,270,132 (GRCm39) |
E430G |
probably damaging |
Het |
Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
Ogdhl |
A |
G |
14: 32,047,842 (GRCm39) |
R31G |
probably benign |
Het |
Or13f5 |
A |
T |
4: 52,825,399 (GRCm39) |
M1L |
probably benign |
Het |
Pcdh1 |
C |
A |
18: 38,330,913 (GRCm39) |
V697L |
probably benign |
Het |
Pcdhga9 |
T |
C |
18: 37,871,553 (GRCm39) |
Y461H |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,667,723 (GRCm39) |
Y625C |
probably damaging |
Het |
Poglut2 |
A |
C |
1: 44,149,180 (GRCm39) |
F453V |
probably damaging |
Het |
Ptprn |
T |
A |
1: 75,228,931 (GRCm39) |
D828V |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,177,700 (GRCm39) |
W97R |
probably damaging |
Het |
Rnf10 |
T |
A |
5: 115,386,762 (GRCm39) |
Q508L |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec24b |
A |
T |
3: 129,834,413 (GRCm39) |
S126T |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,768 (GRCm39) |
N100S |
probably benign |
Het |
Speer1j |
T |
C |
5: 11,553,798 (GRCm39) |
S7P |
probably benign |
Het |
Stam2 |
A |
T |
2: 52,605,716 (GRCm39) |
D167E |
probably benign |
Het |
Stambp |
G |
A |
6: 83,538,960 (GRCm39) |
Q147* |
probably null |
Het |
Tbc1d32 |
A |
G |
10: 56,047,000 (GRCm39) |
V556A |
possibly damaging |
Het |
Tll2 |
T |
C |
19: 41,087,075 (GRCm39) |
D592G |
probably benign |
Het |
Tmem199 |
A |
T |
11: 78,400,508 (GRCm39) |
|
probably benign |
Het |
Traip |
T |
A |
9: 107,847,218 (GRCm39) |
N352K |
probably benign |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Usp54 |
C |
A |
14: 20,600,406 (GRCm39) |
A1444S |
probably benign |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Xdh |
G |
A |
17: 74,225,389 (GRCm39) |
T471I |
probably damaging |
Het |
Zdhhc19 |
A |
G |
16: 32,316,494 (GRCm39) |
D83G |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,841,752 (GRCm39) |
|
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,944 (GRCm39) |
S170T |
probably benign |
Het |
Zfp970 |
A |
G |
2: 177,167,961 (GRCm39) |
I512V |
probably benign |
Het |
Zfp990 |
A |
G |
4: 145,263,616 (GRCm39) |
I205V |
possibly damaging |
Het |
|
Other mutations in Pkd2l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Pkd2l1
|
APN |
19 |
44,146,075 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00426:Pkd2l1
|
APN |
19 |
44,144,044 (GRCm39) |
missense |
probably benign |
0.21 |
IGL00848:Pkd2l1
|
APN |
19 |
44,180,718 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01315:Pkd2l1
|
APN |
19 |
44,180,635 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01654:Pkd2l1
|
APN |
19 |
44,142,662 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01786:Pkd2l1
|
APN |
19 |
44,179,881 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02174:Pkd2l1
|
APN |
19 |
44,145,707 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02648:Pkd2l1
|
APN |
19 |
44,143,975 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0654:Pkd2l1
|
UTSW |
19 |
44,146,070 (GRCm39) |
splice site |
probably null |
|
R0762:Pkd2l1
|
UTSW |
19 |
44,138,909 (GRCm39) |
missense |
probably benign |
0.19 |
R0981:Pkd2l1
|
UTSW |
19 |
44,142,861 (GRCm39) |
critical splice donor site |
probably null |
|
R1114:Pkd2l1
|
UTSW |
19 |
44,179,983 (GRCm39) |
splice site |
probably benign |
|
R1381:Pkd2l1
|
UTSW |
19 |
44,138,902 (GRCm39) |
missense |
probably benign |
0.08 |
R1467:Pkd2l1
|
UTSW |
19 |
44,142,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1467:Pkd2l1
|
UTSW |
19 |
44,142,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1754:Pkd2l1
|
UTSW |
19 |
44,144,040 (GRCm39) |
nonsense |
probably null |
|
R2009:Pkd2l1
|
UTSW |
19 |
44,144,403 (GRCm39) |
missense |
probably benign |
0.01 |
R2125:Pkd2l1
|
UTSW |
19 |
44,142,939 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2696:Pkd2l1
|
UTSW |
19 |
44,145,708 (GRCm39) |
missense |
probably benign |
0.01 |
R3001:Pkd2l1
|
UTSW |
19 |
44,143,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3002:Pkd2l1
|
UTSW |
19 |
44,143,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3701:Pkd2l1
|
UTSW |
19 |
44,145,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R4179:Pkd2l1
|
UTSW |
19 |
44,180,620 (GRCm39) |
missense |
probably benign |
0.01 |
R4180:Pkd2l1
|
UTSW |
19 |
44,180,620 (GRCm39) |
missense |
probably benign |
0.01 |
R4614:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4616:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4618:Pkd2l1
|
UTSW |
19 |
44,142,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R4762:Pkd2l1
|
UTSW |
19 |
44,144,060 (GRCm39) |
missense |
probably benign |
0.09 |
R4893:Pkd2l1
|
UTSW |
19 |
44,142,210 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Pkd2l1
|
UTSW |
19 |
44,142,581 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5004:Pkd2l1
|
UTSW |
19 |
44,138,016 (GRCm39) |
missense |
probably benign |
0.00 |
R5380:Pkd2l1
|
UTSW |
19 |
44,146,171 (GRCm39) |
missense |
probably benign |
0.33 |
R5480:Pkd2l1
|
UTSW |
19 |
44,180,595 (GRCm39) |
missense |
probably benign |
0.18 |
R5950:Pkd2l1
|
UTSW |
19 |
44,140,529 (GRCm39) |
missense |
probably benign |
0.27 |
R6248:Pkd2l1
|
UTSW |
19 |
44,146,108 (GRCm39) |
missense |
probably benign |
0.00 |
R6908:Pkd2l1
|
UTSW |
19 |
44,140,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Pkd2l1
|
UTSW |
19 |
44,179,947 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7021:Pkd2l1
|
UTSW |
19 |
44,142,647 (GRCm39) |
missense |
probably damaging |
0.98 |
R7322:Pkd2l1
|
UTSW |
19 |
44,146,129 (GRCm39) |
missense |
probably benign |
0.00 |
R7378:Pkd2l1
|
UTSW |
19 |
44,142,154 (GRCm39) |
missense |
probably benign |
0.05 |
R7442:Pkd2l1
|
UTSW |
19 |
44,145,668 (GRCm39) |
missense |
probably benign |
0.01 |
R7636:Pkd2l1
|
UTSW |
19 |
44,179,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7954:Pkd2l1
|
UTSW |
19 |
44,142,651 (GRCm39) |
missense |
probably benign |
0.15 |
R7989:Pkd2l1
|
UTSW |
19 |
44,142,507 (GRCm39) |
missense |
probably benign |
0.10 |
R9007:Pkd2l1
|
UTSW |
19 |
44,140,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9245:Pkd2l1
|
UTSW |
19 |
44,143,894 (GRCm39) |
missense |
probably benign |
0.33 |
R9675:Pkd2l1
|
UTSW |
19 |
44,137,696 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Pkd2l1
|
UTSW |
19 |
44,145,621 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pkd2l1
|
UTSW |
19 |
44,137,710 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGGAAATTACTCGAGAGC -3'
(R):5'- TCTGTCCGTTCCTGGAGTAGTC -3'
Sequencing Primer
(F):5'- GCAGCTGCACTCAGATACCTTTAAG -3'
(R):5'- CCGTTCCTGGAGTAGTCTATGC -3'
|
Posted On |
2015-10-08 |