Incidental Mutation 'R2163:Pkd2'
| ID |
235271 |
| 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 |
040166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 104603543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000069263
AA Change: T62A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
| Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
| Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
| Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,329,720 (GRCm39) |
S192G |
probably damaging |
Het |
| Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
| Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
| Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
| Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
| Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
| Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
| Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
| Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
| Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
| Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,822 (GRCm39) |
F631L |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
| Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
| Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
| Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
| Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
| Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,926,664 (GRCm39) |
T554I |
possibly damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
| Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
| Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,408,447 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
| Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,162,309 (GRCm39) |
L820I |
probably damaging |
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 |
|
R1883:Pkd2
|
UTSW |
5 |
104,631,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TATTCACGGGGACAATCTCTCC -3'
(R):5'- AATCTTTTGTCATAGAGCTGGACC -3'
Sequencing Primer
(F):5'- GGGGACAATCTCTCCAACAAG -3'
(R):5'- CATAGAGCTGGACCTTTCCTGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation