Incidental Mutation 'R4616:Pkd2l1'
| ID |
351077 |
| 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 |
041827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R4616 (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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
C |
T |
14: 103,292,781 (GRCm39) |
T435M |
probably benign |
Het |
| Adgrf5 |
T |
C |
17: 43,763,331 (GRCm39) |
F1078L |
probably benign |
Het |
| Adh6a |
A |
T |
3: 138,030,708 (GRCm39) |
N110I |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,798,212 (GRCm39) |
|
probably benign |
Het |
| Aopep |
G |
A |
13: 63,446,565 (GRCm39) |
E123K |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,531,692 (GRCm39) |
F1302S |
probably damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,839,506 (GRCm39) |
R135W |
probably damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,824,908 (GRCm39) |
S28P |
possibly damaging |
Het |
| C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
| Cfb |
T |
A |
17: 35,078,044 (GRCm39) |
H962L |
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
| Clec16a |
T |
A |
16: 10,462,747 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
T |
C |
9: 57,609,039 (GRCm39) |
S307P |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,664,616 (GRCm39) |
V538A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,408,639 (GRCm39) |
Q815* |
probably null |
Het |
| Fam90a1a |
C |
A |
8: 22,453,862 (GRCm39) |
Q406K |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,109 (GRCm39) |
V585A |
probably benign |
Het |
| Gm8214 |
T |
C |
1: 183,414,094 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 25,168,799 (GRCm39) |
G771D |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,614,204 (GRCm39) |
I612N |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,010 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
| Ighv2-9 |
G |
T |
12: 113,842,839 (GRCm39) |
T76K |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,435,019 (GRCm39) |
M1K |
probably null |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,458,184 (GRCm39) |
N1985D |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,446,252 (GRCm39) |
V99A |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,637,454 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
T |
C |
1: 153,041,915 (GRCm39) |
Y73C |
probably damaging |
Het |
| Maff |
A |
G |
15: 79,241,898 (GRCm39) |
D105G |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,797,132 (GRCm39) |
V312M |
possibly damaging |
Het |
| Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrgbp |
A |
T |
2: 180,227,107 (GRCm39) |
|
silent |
Het |
| Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,136,540 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,728,932 (GRCm39) |
I596T |
probably damaging |
Het |
| Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
| Or52e3 |
C |
T |
7: 102,869,629 (GRCm39) |
R235* |
probably null |
Het |
| Pcsk5 |
T |
G |
19: 17,538,114 (GRCm39) |
Q904H |
probably benign |
Het |
| Pdzrn3 |
G |
T |
6: 101,128,970 (GRCm39) |
H565Q |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,012,087 (GRCm39) |
I337N |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,573,752 (GRCm39) |
V66A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,931 (GRCm39) |
S93P |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,840 (GRCm39) |
D301E |
probably damaging |
Het |
| Rdh16 |
A |
T |
10: 127,637,382 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
A |
T |
16: 44,964,655 (GRCm39) |
F193I |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,186,420 (GRCm39) |
K167R |
probably damaging |
Het |
| Sort1 |
A |
T |
3: 108,262,857 (GRCm39) |
T772S |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,879,238 (GRCm39) |
|
noncoding transcript |
Het |
| Stard5 |
G |
T |
7: 83,282,489 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,119,886 (GRCm39) |
T61A |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,752,769 (GRCm39) |
M80K |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,135 (GRCm39) |
L185Q |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,127 (GRCm39) |
S3556P |
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 |
|
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'- TGGGGAAATTACTCGAGAGC -3'
(R):5'- TCTGTCCGTTCCTGGAGTAG -3'
Sequencing Primer
(F):5'- GCAGCTGCACTCAGATACCTTTAAG -3'
(R):5'- CCGTTCCTGGAGTAGTCTATGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation