Incidental Mutation 'R5543:Pkd2'
ID |
436090 |
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 |
043101-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5543 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104637199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 604
(I604N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
AlphaFold |
O35245 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: I604N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084041 Gene: ENSMUSG00000034462 AA Change: I604N
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133540
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
C |
A |
7: 127,836,353 (GRCm39) |
S80I |
probably benign |
Het |
Aak1 |
T |
C |
6: 86,959,627 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
G |
7: 45,638,960 (GRCm39) |
|
probably null |
Het |
Acvr1 |
A |
G |
2: 58,353,157 (GRCm39) |
S268P |
probably damaging |
Het |
Apod |
T |
C |
16: 31,122,351 (GRCm39) |
|
probably null |
Het |
Atp5po |
T |
C |
16: 91,723,418 (GRCm39) |
I58V |
probably benign |
Het |
AU040320 |
C |
T |
4: 126,735,017 (GRCm39) |
T777M |
probably damaging |
Het |
Ccne2 |
A |
T |
4: 11,194,026 (GRCm39) |
N89I |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,457,407 (GRCm39) |
T1151K |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,543,228 (GRCm39) |
V2314A |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,595,808 (GRCm39) |
S1881P |
probably damaging |
Het |
E4f1 |
A |
G |
17: 24,666,336 (GRCm39) |
V24A |
possibly damaging |
Het |
Esrrg |
A |
T |
1: 187,882,451 (GRCm39) |
D236V |
probably damaging |
Het |
Fam240b |
T |
A |
13: 64,633,736 (GRCm39) |
I27F |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,476,516 (GRCm39) |
I1854N |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,920,906 (GRCm39) |
Y480H |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,676,394 (GRCm39) |
N47S |
probably benign |
Het |
Gabrr3 |
T |
C |
16: 59,253,870 (GRCm39) |
S196P |
probably damaging |
Het |
Gbp8 |
T |
A |
5: 105,165,696 (GRCm39) |
D319V |
possibly damaging |
Het |
Hrh3 |
G |
T |
2: 179,745,763 (GRCm39) |
A61E |
probably damaging |
Het |
Idua |
T |
C |
5: 108,818,095 (GRCm39) |
I89T |
probably benign |
Het |
Ifitm3 |
T |
A |
7: 140,589,730 (GRCm39) |
I108F |
unknown |
Het |
Izumo4 |
T |
C |
10: 80,538,668 (GRCm39) |
F40S |
probably damaging |
Het |
Kifc2 |
A |
G |
15: 76,551,242 (GRCm39) |
R679G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Ldha |
A |
T |
7: 46,500,314 (GRCm39) |
I171F |
possibly damaging |
Het |
Lrfn4 |
T |
C |
19: 4,662,191 (GRCm39) |
S609G |
probably benign |
Het |
Mmp15 |
T |
C |
8: 96,094,729 (GRCm39) |
F201S |
possibly damaging |
Het |
Myof |
C |
T |
19: 37,969,778 (GRCm39) |
V295I |
probably benign |
Het |
Or1n2 |
C |
T |
2: 36,797,369 (GRCm39) |
T137I |
possibly damaging |
Het |
Or2z2 |
T |
A |
11: 58,345,993 (GRCm39) |
M261L |
probably damaging |
Het |
Or5m12 |
G |
T |
2: 85,734,672 (GRCm39) |
A242D |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,655,137 (GRCm39) |
D1778G |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,247,886 (GRCm39) |
D969E |
probably benign |
Het |
Pibf1 |
A |
T |
14: 99,350,428 (GRCm39) |
N192I |
probably benign |
Het |
Pitpnm3 |
A |
G |
11: 71,947,023 (GRCm39) |
F792S |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,887,775 (GRCm39) |
Y188H |
probably damaging |
Het |
Plxnc1 |
G |
T |
10: 94,700,636 (GRCm39) |
D643E |
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,501,080 (GRCm39) |
P1241L |
probably damaging |
Het |
Ptprd |
T |
C |
4: 75,977,990 (GRCm39) |
E173G |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,416,557 (GRCm39) |
V232A |
probably damaging |
Het |
Shbg |
A |
G |
11: 69,507,564 (GRCm39) |
I171T |
probably damaging |
Het |
Slc22a14 |
A |
T |
9: 119,002,674 (GRCm39) |
F404L |
probably benign |
Het |
Slc37a3 |
C |
A |
6: 39,331,960 (GRCm39) |
G158C |
probably damaging |
Het |
Slfn9 |
C |
A |
11: 82,873,207 (GRCm39) |
L565F |
probably damaging |
Het |
Spmip10 |
G |
A |
18: 56,727,760 (GRCm39) |
|
probably benign |
Het |
Trank1 |
T |
A |
9: 111,195,180 (GRCm39) |
M1068K |
probably damaging |
Het |
Trbv15 |
A |
T |
6: 41,118,187 (GRCm39) |
I15L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,569,918 (GRCm39) |
V26992M |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,054,560 (GRCm39) |
I74F |
probably damaging |
Het |
Vamp3 |
A |
G |
4: 151,135,477 (GRCm39) |
L47P |
probably damaging |
Het |
Zfp143 |
T |
A |
7: 109,682,522 (GRCm39) |
C363* |
probably null |
Het |
Zfp438 |
T |
C |
18: 5,213,761 (GRCm39) |
E399G |
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 |
|
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 |
|
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'- GGGAAAGGCTGTATTCTGACTC -3'
(R):5'- ACGATGGCATCTCAGATTAAACC -3'
Sequencing Primer
(F):5'- TCTTCAGGGTGCCTCAAACAAATG -3'
(R):5'- GGGCAATTTCATACATGTGC -3'
|
Posted On |
2016-10-24 |