Incidental Mutation 'R1883:Pkd2'
| ID |
209240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2
|
| Ensembl Gene |
ENSMUSG00000034462 |
| Gene Name |
polycystin 2, transient receptor potential cation channel |
| Synonyms |
TRPP2, polycystin-2, C030034P18Rik, PC2 |
| MMRRC Submission |
039904-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1883 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104631094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 506
(N506I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: N506I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: N506I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
265 |
685 |
1.3e-171 |
PFAM |
|
Pfam:Ion_trans
|
454 |
690 |
2.6e-25 |
PFAM |
|
coiled coil region
|
765 |
794 |
N/A |
INTRINSIC |
|
PDB:3HRN|A
|
834 |
893 |
8e-31 |
PDB |
|
low complexity region
|
900 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130931
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| 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 is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
T |
C |
7: 140,682,244 (GRCm39) |
E677G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bhmt1b |
T |
C |
18: 87,774,669 (GRCm39) |
L64P |
probably damaging |
Het |
| Brs3 |
T |
C |
X: 56,092,449 (GRCm39) |
I311T |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,338,297 (GRCm39) |
K552R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,881,661 (GRCm39) |
|
probably null |
Het |
| Cdc16 |
A |
G |
8: 13,825,738 (GRCm39) |
N449D |
probably damaging |
Het |
| Cdyl2 |
A |
T |
8: 117,321,902 (GRCm39) |
N208K |
probably damaging |
Het |
| Cnot4 |
C |
T |
6: 35,055,092 (GRCm39) |
V66I |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,656,353 (GRCm39) |
T885A |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,634,703 (GRCm39) |
T131I |
possibly damaging |
Het |
| Crybg2 |
C |
A |
4: 133,801,594 (GRCm39) |
S918* |
probably null |
Het |
| Dact2 |
A |
T |
17: 14,418,085 (GRCm39) |
S207T |
possibly damaging |
Het |
| Dbnl |
G |
A |
11: 5,749,247 (GRCm39) |
G356E |
probably benign |
Het |
| Ddx18 |
C |
A |
1: 121,495,645 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,328,905 (GRCm39) |
H282Q |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,677,142 (GRCm39) |
D453G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,228,389 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Dusp8 |
C |
T |
7: 141,638,085 (GRCm39) |
|
probably null |
Het |
| Eipr1 |
A |
T |
12: 28,816,850 (GRCm39) |
H69L |
possibly damaging |
Het |
| Eml1 |
A |
G |
12: 108,429,911 (GRCm39) |
R65G |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,950,362 (GRCm39) |
H722Y |
possibly damaging |
Het |
| Epyc |
A |
T |
10: 97,511,695 (GRCm39) |
K229N |
possibly damaging |
Het |
| Extl1 |
A |
G |
4: 134,091,917 (GRCm39) |
I312T |
probably benign |
Het |
| F13a1 |
G |
C |
13: 37,172,981 (GRCm39) |
A133G |
probably benign |
Het |
| Fam185a |
G |
T |
5: 21,630,242 (GRCm39) |
C26F |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,176,679 (GRCm39) |
N737S |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,829,171 (GRCm39) |
I13V |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,504,184 (GRCm39) |
Q4559L |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,406,373 (GRCm39) |
S1157P |
probably damaging |
Het |
| Foxj3 |
A |
C |
4: 119,467,226 (GRCm39) |
M190L |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,871,221 (GRCm39) |
Y192H |
possibly damaging |
Het |
| Hexd |
T |
A |
11: 121,098,524 (GRCm39) |
S3T |
probably benign |
Het |
| Klf3 |
C |
T |
5: 64,980,224 (GRCm39) |
P5S |
probably damaging |
Het |
| Klf9 |
C |
T |
19: 23,142,101 (GRCm39) |
S187L |
probably damaging |
Het |
| Krt9 |
T |
C |
11: 100,079,523 (GRCm39) |
H623R |
unknown |
Het |
| Krtap2-4 |
G |
C |
11: 99,505,505 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
T |
C |
7: 45,436,273 (GRCm39) |
Y84H |
probably damaging |
Het |
| Mroh3 |
G |
T |
1: 136,134,731 (GRCm39) |
A166D |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,373,189 (GRCm39) |
P697T |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,379,330 (GRCm39) |
L192P |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,356,616 (GRCm39) |
F1590C |
probably damaging |
Het |
| Nrk |
G |
T |
X: 137,907,922 (GRCm39) |
V1455F |
probably damaging |
Het |
| Nsun3 |
T |
C |
16: 62,555,656 (GRCm39) |
D290G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,029 (GRCm39) |
T222A |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,764 (GRCm39) |
S200P |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,189 (GRCm39) |
I228T |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,981 (GRCm39) |
H54R |
probably benign |
Het |
| Osbpl11 |
T |
G |
16: 33,034,723 (GRCm39) |
H237Q |
probably benign |
Het |
| Pde10a |
A |
T |
17: 9,197,776 (GRCm39) |
T671S |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,573,913 (GRCm39) |
V274A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,425,192 (GRCm39) |
D938G |
probably benign |
Het |
| Ptch1 |
G |
A |
13: 63,659,841 (GRCm39) |
Q1134* |
probably null |
Het |
| Rasgrf2 |
A |
G |
13: 92,117,149 (GRCm39) |
V820A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,998 (GRCm39) |
V137M |
possibly damaging |
Het |
| Rpa1 |
A |
G |
11: 75,209,309 (GRCm39) |
V137A |
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,591,354 (GRCm39) |
I299S |
probably damaging |
Het |
| Scn3b |
A |
C |
9: 40,190,669 (GRCm39) |
|
probably null |
Het |
| Sdha |
A |
T |
13: 74,481,255 (GRCm39) |
I317N |
probably damaging |
Het |
| Serpina1d |
T |
A |
12: 103,732,037 (GRCm39) |
D274V |
possibly damaging |
Het |
| Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,284,314 (GRCm39) |
E451D |
probably benign |
Het |
| Spmip4 |
T |
C |
6: 50,551,433 (GRCm39) |
T339A |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,299,284 (GRCm39) |
K8* |
probably null |
Het |
| Tas1r3 |
G |
T |
4: 155,946,610 (GRCm39) |
P332T |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,411,961 (GRCm39) |
T165S |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,143,347 (GRCm39) |
V676A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,543,158 (GRCm39) |
E24G |
probably damaging |
Het |
| Tlr7 |
C |
T |
X: 166,089,468 (GRCm39) |
G673S |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,908,539 (GRCm39) |
D1520E |
probably benign |
Het |
| Trabd |
A |
G |
15: 88,966,184 (GRCm39) |
E47G |
probably damaging |
Het |
| Trim29 |
T |
A |
9: 43,222,702 (GRCm39) |
I177N |
probably damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,944,563 (GRCm39) |
L53* |
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,721,438 (GRCm39) |
L208P |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,564,929 (GRCm39) |
C872Y |
possibly damaging |
Het |
| Vac14 |
A |
G |
8: 111,438,319 (GRCm39) |
H644R |
probably damaging |
Het |
| Vmn1r20 |
C |
A |
6: 57,409,306 (GRCm39) |
H211N |
probably benign |
Het |
| Vmn1r31 |
C |
T |
6: 58,449,029 (GRCm39) |
V279I |
probably damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,499,190 (GRCm39) |
Q425K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,094 (GRCm39) |
V299A |
probably damaging |
Het |
| Vps54 |
A |
T |
11: 21,262,967 (GRCm39) |
T685S |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,302,700 (GRCm39) |
W932R |
probably damaging |
Het |
| Wdr53 |
A |
T |
16: 32,075,316 (GRCm39) |
I174F |
possibly damaging |
Het |
| Zfp157 |
A |
G |
5: 138,443,102 (GRCm39) |
D31G |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,449,435 (GRCm39) |
L701P |
probably benign |
Het |
| Zfp609 |
A |
T |
9: 65,702,040 (GRCm39) |
M204K |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,545,870 (GRCm39) |
H1325R |
possibly damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,622 (GRCm39) |
I204N |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,732,624 (GRCm39) |
D641N |
probably benign |
Het |
|
| Other mutations in Pkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Pkd2
|
APN |
5 |
104,631,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Pkd2
|
APN |
5 |
104,646,750 (GRCm39) |
splice site |
probably benign |
|
|
IGL01805:Pkd2
|
APN |
5 |
104,630,959 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02146:Pkd2
|
APN |
5 |
104,637,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Pkd2
|
APN |
5 |
104,624,941 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02481:Pkd2
|
APN |
5 |
104,634,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Pkd2
|
APN |
5 |
104,628,026 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03026:Pkd2
|
APN |
5 |
104,642,753 (GRCm39) |
splice site |
probably benign |
|
|
IGL03409:Pkd2
|
APN |
5 |
104,637,215 (GRCm39) |
nonsense |
probably null |
|
|
Nephro
|
UTSW |
5 |
104,634,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
reggae
|
UTSW |
5 |
104,625,045 (GRCm39) |
splice site |
probably null |
|
|
samba
|
UTSW |
5 |
104,624,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02988:Pkd2
|
UTSW |
5 |
104,651,471 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Pkd2
|
UTSW |
5 |
104,607,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0020:Pkd2
|
UTSW |
5 |
104,651,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Pkd2
|
UTSW |
5 |
104,651,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Pkd2
|
UTSW |
5 |
104,603,671 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Pkd2
|
UTSW |
5 |
104,614,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0070:Pkd2
|
UTSW |
5 |
104,614,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0315:Pkd2
|
UTSW |
5 |
104,607,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0316:Pkd2
|
UTSW |
5 |
104,625,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Pkd2
|
UTSW |
5 |
104,603,471 (GRCm39) |
unclassified |
probably benign |
|
|
R1277:Pkd2
|
UTSW |
5 |
104,650,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1907:Pkd2
|
UTSW |
5 |
104,634,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Pkd2
|
UTSW |
5 |
104,626,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Pkd2
|
UTSW |
5 |
104,614,744 (GRCm39) |
splice site |
probably null |
|
|
R2080:Pkd2
|
UTSW |
5 |
104,624,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2081:Pkd2
|
UTSW |
5 |
104,608,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2098:Pkd2
|
UTSW |
5 |
104,626,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Pkd2
|
UTSW |
5 |
104,631,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Pkd2
|
UTSW |
5 |
104,603,456 (GRCm39) |
unclassified |
probably benign |
|
|
R2163:Pkd2
|
UTSW |
5 |
104,603,543 (GRCm39) |
unclassified |
probably benign |
|
|
R3401:Pkd2
|
UTSW |
5 |
104,628,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3732:Pkd2
|
UTSW |
5 |
104,637,285 (GRCm39) |
splice site |
probably null |
|
|
R3733:Pkd2
|
UTSW |
5 |
104,637,285 (GRCm39) |
splice site |
probably null |
|
|
R4409:Pkd2
|
UTSW |
5 |
104,614,750 (GRCm39) |
splice site |
silent |
|
|
R4582:Pkd2
|
UTSW |
5 |
104,650,210 (GRCm39) |
nonsense |
probably null |
|
|
R5189:Pkd2
|
UTSW |
5 |
104,607,785 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5191:Pkd2
|
UTSW |
5 |
104,634,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5195:Pkd2
|
UTSW |
5 |
104,634,547 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5198:Pkd2
|
UTSW |
5 |
104,630,958 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5326:Pkd2
|
UTSW |
5 |
104,634,515 (GRCm39) |
splice site |
silent |
|
|
R5406:Pkd2
|
UTSW |
5 |
104,628,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Pkd2
|
UTSW |
5 |
104,634,515 (GRCm39) |
splice site |
silent |
|
|
R5543:Pkd2
|
UTSW |
5 |
104,637,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5633:Pkd2
|
UTSW |
5 |
104,646,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5887:Pkd2
|
UTSW |
5 |
104,646,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Pkd2
|
UTSW |
5 |
104,625,045 (GRCm39) |
splice site |
probably null |
|
|
R5924:Pkd2
|
UTSW |
5 |
104,646,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6361:Pkd2
|
UTSW |
5 |
104,634,546 (GRCm39) |
nonsense |
probably null |
|
|
R6455:Pkd2
|
UTSW |
5 |
104,607,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6495:Pkd2
|
UTSW |
5 |
104,637,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6735:Pkd2
|
UTSW |
5 |
104,628,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Pkd2
|
UTSW |
5 |
104,624,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Pkd2
|
UTSW |
5 |
104,634,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Pkd2
|
UTSW |
5 |
104,631,108 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7560:Pkd2
|
UTSW |
5 |
104,628,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Pkd2
|
UTSW |
5 |
104,630,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Pkd2
|
UTSW |
5 |
104,628,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Pkd2
|
UTSW |
5 |
104,646,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8360:Pkd2
|
UTSW |
5 |
104,607,653 (GRCm39) |
nonsense |
probably null |
|
|
R8368:Pkd2
|
UTSW |
5 |
104,607,653 (GRCm39) |
nonsense |
probably null |
|
|
R8526:Pkd2
|
UTSW |
5 |
104,637,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Pkd2
|
UTSW |
5 |
104,637,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Pkd2
|
UTSW |
5 |
104,631,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Pkd2
|
UTSW |
5 |
104,628,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Pkd2
|
UTSW |
5 |
104,626,959 (GRCm39) |
splice site |
probably null |
|
|
R9452:Pkd2
|
UTSW |
5 |
104,614,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Pkd2
|
UTSW |
5 |
104,614,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Pkd2
|
UTSW |
5 |
104,607,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9671:Pkd2
|
UTSW |
5 |
104,637,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Pkd2
|
UTSW |
5 |
104,626,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9737:Pkd2
|
UTSW |
5 |
104,651,349 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Pkd2
|
UTSW |
5 |
104,646,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pkd2
|
UTSW |
5 |
104,607,915 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTCTTGGCAGTTTCAGC -3'
(R):5'- TTGTGTGACTAAGTCAGAGCTC -3'
Sequencing Primer
(F):5'- GCCTGTAAAACTGATCCGCTATG -3'
(R):5'- CTGGAACTATCAAGATCTCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation