Incidental Mutation 'R1114:Pkd2l1'
| ID |
97097 |
| 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 |
039187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44179983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
| AlphaFold |
A2A259 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
|
| SMART Domains |
Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
| 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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.5%
- 20x: 84.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
T |
A |
9: 8,222,179 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
T |
A |
10: 106,824,740 (GRCm39) |
R422S |
possibly damaging |
Het |
| Asb15 |
G |
A |
6: 24,567,176 (GRCm39) |
R499H |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,662 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
G |
A |
3: 126,633,941 (GRCm39) |
V488M |
probably damaging |
Het |
| Cd247 |
A |
G |
1: 165,616,407 (GRCm39) |
K4E |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,739 (GRCm39) |
D522G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,783,123 (GRCm39) |
|
probably benign |
Het |
| Dctn2 |
T |
A |
10: 127,114,011 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
A |
T |
9: 24,336,072 (GRCm39) |
F545I |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,287,643 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,540 (GRCm39) |
T719S |
possibly damaging |
Het |
| Dusp12 |
A |
C |
1: 170,708,586 (GRCm39) |
V48G |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,452 (GRCm39) |
R159* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw20 |
A |
G |
9: 109,052,550 (GRCm39) |
V261A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,814 (GRCm39) |
R953L |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,873 (GRCm39) |
E652G |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,671 (GRCm39) |
R363* |
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,667,770 (GRCm39) |
D1089G |
probably benign |
Het |
| Luc7l |
T |
C |
17: 26,494,832 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,746,568 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,358,289 (GRCm39) |
T392A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,277,166 (GRCm39) |
V921A |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,651 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,711 (GRCm39) |
I74F |
possibly damaging |
Het |
| Pramel24 |
A |
G |
4: 143,453,425 (GRCm39) |
I178V |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,486 (GRCm39) |
C1554* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,960,867 (GRCm39) |
C24R |
probably damaging |
Het |
| Scamp2 |
T |
A |
9: 57,488,863 (GRCm39) |
I188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,759,013 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,914,262 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
G |
T |
7: 107,024,562 (GRCm39) |
V152F |
possibly damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,304 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,261 (GRCm39) |
I831T |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,727,515 (GRCm39) |
H196N |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,248,144 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACAGGCAGATGGTCACAGGCAG -3'
(R):5'- TGCCAGAAAGCTCACTTAGCACAG -3'
Sequencing Primer
(F):5'- GCAGCGGCTACTCACAC -3'
(R):5'- CAGTCATTACCTTGGAATCCAGGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation