Incidental Mutation 'IGL00426:Pkd2l1'
ID |
3171 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pkd2l1
|
Ensembl Gene |
ENSMUSG00000037578 |
Gene Name |
polycystic kidney disease 2-like 1 |
Synonyms |
PKD2L, polycystin-L, PCL, TRPP3, Pkdl |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL00426
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44144044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 343
(R343H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
AlphaFold |
A2A259 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
AA Change: R343H
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000045675 Gene: ENSMUSG00000037578 AA Change: R343H
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
|
Coding Region Coverage |
|
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 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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
G |
A |
1: 11,818,278 (GRCm39) |
E313K |
probably damaging |
Het |
Aadacl2fm2 |
T |
A |
3: 59,659,542 (GRCm39) |
L332I |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,571,244 (GRCm39) |
V130A |
probably damaging |
Het |
Arhgef28 |
G |
A |
13: 98,124,785 (GRCm39) |
A499V |
probably benign |
Het |
Ceacam18 |
C |
T |
7: 43,288,780 (GRCm39) |
T177I |
probably benign |
Het |
Cspp1 |
G |
A |
1: 10,182,776 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
A |
T |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,115,750 (GRCm39) |
|
probably null |
Het |
Dip2c |
T |
C |
13: 9,656,551 (GRCm39) |
F821L |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,808,006 (GRCm39) |
R85* |
probably null |
Het |
Mcf2l |
A |
G |
8: 13,034,910 (GRCm39) |
D106G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,719,214 (GRCm39) |
V2259A |
possibly damaging |
Het |
Mmp16 |
C |
T |
4: 18,011,784 (GRCm39) |
P233L |
probably benign |
Het |
Mrpl27 |
A |
G |
11: 94,550,523 (GRCm39) |
N110S |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,119,502 (GRCm39) |
M131T |
probably benign |
Het |
Myzap |
T |
C |
9: 71,462,953 (GRCm39) |
T198A |
probably benign |
Het |
Nek8 |
T |
C |
11: 78,058,653 (GRCm39) |
Q549R |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
Nup155 |
T |
C |
15: 8,186,278 (GRCm39) |
*1347Q |
probably null |
Het |
Ppfibp2 |
T |
A |
7: 107,308,012 (GRCm39) |
L215H |
probably damaging |
Het |
Ralgds |
T |
C |
2: 28,442,230 (GRCm39) |
L137P |
probably damaging |
Het |
Rasa2 |
C |
T |
9: 96,426,913 (GRCm39) |
D752N |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,896,041 (GRCm39) |
K1726E |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,175,142 (GRCm39) |
|
probably benign |
Het |
Tmem183a |
A |
G |
1: 134,277,882 (GRCm39) |
L294P |
probably damaging |
Het |
Trav19 |
T |
C |
14: 54,083,141 (GRCm39) |
L72P |
probably damaging |
Het |
Vapa |
T |
C |
17: 65,900,476 (GRCm39) |
T99A |
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 |
|
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 |
R4617: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 |
|
|
Posted On |
2012-04-20 |