Incidental Mutation 'R6455:Pkd2'
| ID |
519532 |
| 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 |
044591-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6455 (G1)
|
| Quality Score |
138.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104607790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 96
(D96E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
AA Change: D96E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: D96E
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
96% (70/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,042,376 (GRCm39) |
R1899G |
probably damaging |
Het |
| Abca6 |
C |
T |
11: 110,132,407 (GRCm39) |
G296D |
probably damaging |
Het |
| Abcb5 |
A |
T |
12: 118,854,284 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
G |
14: 68,870,657 (GRCm39) |
T339P |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,189 (GRCm39) |
H345L |
probably damaging |
Het |
| Adcy10 |
C |
G |
1: 165,345,943 (GRCm39) |
Q331E |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,196 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,673,639 (GRCm39) |
I3078N |
probably damaging |
Het |
| Amtn |
A |
T |
5: 88,528,139 (GRCm39) |
N71Y |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,753 (GRCm39) |
Y370F |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,121,862 (GRCm39) |
S748P |
probably benign |
Het |
| Atp2b1 |
C |
A |
10: 98,852,842 (GRCm39) |
Q108K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,830 (GRCm39) |
D123G |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,184,410 (GRCm39) |
S24P |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,896,754 (GRCm39) |
S1550R |
possibly damaging |
Het |
| Ccdc7a |
C |
T |
8: 129,559,091 (GRCm39) |
V1174M |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,863 (GRCm39) |
I611T |
possibly damaging |
Het |
| Chrna1 |
C |
T |
2: 73,397,180 (GRCm39) |
D370N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 92,093,716 (GRCm39) |
|
probably null |
Het |
| Dll4 |
A |
T |
2: 119,164,276 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,058,108 (GRCm39) |
S137P |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,424,467 (GRCm39) |
M250K |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,283 (GRCm39) |
Q3149L |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,761,812 (GRCm39) |
S341F |
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,597 (GRCm39) |
C191S |
probably damaging |
Het |
| Gm5150 |
C |
T |
3: 16,044,815 (GRCm39) |
G137S |
probably damaging |
Het |
| Gpr75 |
C |
T |
11: 30,841,529 (GRCm39) |
R145W |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Ina |
G |
A |
19: 47,012,000 (GRCm39) |
E473K |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,700 (GRCm39) |
S22P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,394,933 (GRCm39) |
M32K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,795 (GRCm39) |
S1383T |
probably benign |
Het |
| Lclat1 |
T |
A |
17: 73,468,828 (GRCm39) |
S3T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,600,486 (GRCm39) |
V612M |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,231,239 (GRCm39) |
R708G |
probably benign |
Het |
| Mphosph8 |
T |
C |
14: 56,925,943 (GRCm39) |
L636P |
probably damaging |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,893 (GRCm39) |
N254Y |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Myog |
G |
A |
1: 134,218,226 (GRCm39) |
D145N |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,570,231 (GRCm39) |
I371F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,057,656 (GRCm39) |
Y229* |
probably null |
Het |
| Nlrp6 |
T |
A |
7: 140,507,422 (GRCm39) |
I896K |
possibly damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,042 (GRCm39) |
I178L |
possibly damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,878 (GRCm39) |
A24V |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,070 (GRCm39) |
S159P |
probably damaging |
Het |
| Pate5 |
T |
A |
9: 35,755,351 (GRCm39) |
K3* |
probably null |
Het |
| Pcdhgc5 |
A |
C |
18: 37,954,301 (GRCm39) |
E525A |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,741,930 (GRCm39) |
Y150F |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,815,138 (GRCm39) |
D1022G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,689,150 (GRCm39) |
M981T |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,299,482 (GRCm39) |
A183S |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,937,856 (GRCm39) |
I270N |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,378,646 (GRCm39) |
R524W |
probably damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,386,031 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,958,107 (GRCm39) |
I109F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,820 (GRCm39) |
R1936W |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,514 (GRCm39) |
Y183N |
probably benign |
Het |
| Svil |
A |
G |
18: 5,056,629 (GRCm39) |
K588E |
possibly damaging |
Het |
| Tas2r122 |
C |
T |
6: 132,688,626 (GRCm39) |
W89* |
probably null |
Het |
| Tbxas1 |
T |
A |
6: 38,929,079 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,397,360 (GRCm39) |
I111N |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,101,198 (GRCm39) |
L163H |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,942,289 (GRCm39) |
V806M |
probably damaging |
Het |
| Traf5 |
G |
A |
1: 191,731,887 (GRCm39) |
A318V |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,482 (GRCm39) |
M1K |
probably null |
Het |
| Utp25 |
G |
T |
1: 192,810,684 (GRCm39) |
D106E |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,000 (GRCm39) |
R73S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,331 (GRCm39) |
Y53C |
probably benign |
Het |
| Vmn2r34 |
T |
A |
7: 7,686,582 (GRCm39) |
N372Y |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,970,579 (GRCm39) |
S229R |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,801,115 (GRCm39) |
T176I |
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 |
|
|
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 |
|
|
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'- ATGGTTAACTCCAGACGCGTG -3'
(R):5'- AGAGTCCGGATCTTACCTCG -3'
Sequencing Primer
(F):5'- TCCAGACGCGTGCAGCC -3'
(R):5'- GGATCTTACCTCGCAGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation