Incidental Mutation 'IGL01786:Pkd2l1'
ID |
155075 |
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 # |
IGL01786
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44179881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 110
(F110L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
AlphaFold |
A2A259 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042026
AA Change: F110L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045675 Gene: ENSMUSG00000037578 AA Change: F110L
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
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 |
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 |
2014-02-04 |