Incidental Mutation 'R5480:Pkd2l1'
| ID |
434292 |
| 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 |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44136076-44180881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44180595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042026]
|
| AlphaFold |
A2A259 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042026
AA Change: V40A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: V40A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
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 |
|
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 |
|
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'- CTCTCAAACCTAAGGTCGTCCC -3'
(R):5'- AATACTGCCTGGGCTCTCTG -3'
Sequencing Primer
(F):5'- AGGTCGTCCCTTCTCTGAC -3'
(R):5'- GGCTCTCTGCTACCAGTGTCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation