Incidental Mutation 'R5191:Pkd2'
| ID |
398136 |
| 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 |
043263-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104634547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 526
(R526Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
AA Change: R526Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: R526Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (69/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
G |
15: 101,034,946 (GRCm39) |
E235G |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,973,028 (GRCm39) |
D658G |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,327,843 (GRCm39) |
R1407G |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,659,306 (GRCm39) |
S107P |
probably benign |
Het |
| Aknad1 |
G |
A |
3: 108,659,867 (GRCm39) |
V294I |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,718,431 (GRCm39) |
T1407A |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,867,929 (GRCm39) |
P318S |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,503,983 (GRCm39) |
V494M |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,719 (GRCm39) |
|
probably null |
Het |
| Crh |
T |
C |
3: 19,748,093 (GRCm39) |
E183G |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,791,035 (GRCm39) |
N265K |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,042,955 (GRCm39) |
A862T |
probably benign |
Het |
| Dact3 |
T |
G |
7: 16,609,375 (GRCm39) |
V9G |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,579,323 (GRCm39) |
I638N |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,739 (GRCm39) |
E2357G |
probably damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,344,810 (GRCm39) |
S38I |
probably damaging |
Het |
| Fyb2 |
G |
T |
4: 104,852,994 (GRCm39) |
C558F |
possibly damaging |
Het |
| Galnt3 |
T |
C |
2: 65,924,050 (GRCm39) |
E406G |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,332,173 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,228,975 (GRCm39) |
Q1060L |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,647,024 (GRCm39) |
I153F |
probably benign |
Het |
| Hnrnpc |
A |
T |
14: 52,314,964 (GRCm39) |
V141E |
probably damaging |
Het |
| Kcnj2 |
C |
T |
11: 110,963,297 (GRCm39) |
Q230* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,184,904 (GRCm39) |
L631P |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,630,829 (GRCm39) |
N23S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,755 (GRCm39) |
S1104P |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,088 (GRCm39) |
D73G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,963,942 (GRCm39) |
F454L |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,466 (GRCm39) |
I90L |
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,668 (GRCm39) |
E304G |
probably damaging |
Het |
| Mst1r |
G |
A |
9: 107,788,750 (GRCm39) |
R423H |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,412,276 (GRCm39) |
T1741A |
unknown |
Het |
| Myo1g |
C |
T |
11: 6,465,105 (GRCm39) |
A447T |
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,840 (GRCm39) |
A360S |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,349,429 (GRCm39) |
K154E |
probably damaging |
Het |
| Or12k8 |
T |
G |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or2a54 |
T |
A |
6: 43,092,800 (GRCm39) |
N41K |
probably damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,630 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,059,365 (GRCm39) |
E3551G |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,387,945 (GRCm39) |
Q114* |
probably null |
Het |
| Sec31a |
T |
C |
5: 100,553,370 (GRCm39) |
E112G |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc9a2 |
G |
T |
1: 40,783,053 (GRCm39) |
R439L |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,659,608 (GRCm39) |
E1097D |
probably benign |
Het |
| Stk38 |
A |
C |
17: 29,193,344 (GRCm39) |
C362G |
probably benign |
Het |
| Stmn2 |
A |
T |
3: 8,610,635 (GRCm39) |
M40L |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,024,860 (GRCm39) |
T283S |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,775,954 (GRCm39) |
S48G |
probably damaging |
Het |
| Tlr4 |
A |
T |
4: 66,759,616 (GRCm39) |
H803L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,709,432 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
G |
T |
9: 21,018,793 (GRCm39) |
Q1099K |
probably damaging |
Het |
| Usp30 |
C |
T |
5: 114,203,755 (GRCm39) |
|
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,447 (GRCm39) |
V60A |
possibly damaging |
Het |
| Zc3h12d |
C |
A |
10: 7,743,582 (GRCm39) |
P451T |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,612 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp236 |
T |
A |
18: 82,639,548 (GRCm39) |
N1233I |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,119,022 (GRCm39) |
V174A |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,939 (GRCm39) |
S397N |
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 |
|
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 |
|
|
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 |
|
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'- GCACATTTAGAGCTGATGGC -3'
(R):5'- TCATCTGGCCATTTCAATCAGC -3'
Sequencing Primer
(F):5'- CTGATGTTGGCTCAGTAATATGGTC -3'
(R):5'- TGGCCATTTCAATCAGCCTAAAAAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation