Incidental Mutation 'R5906:Pkd2'
| ID |
460622 |
| 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 |
044103-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 104625045 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 |
probably null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| Validation Efficiency |
95% (81/85) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| 9130023H24Rik |
G |
A |
7: 127,835,664 (GRCm39) |
P310S |
probably benign |
Het |
| Abcc10 |
G |
T |
17: 46,627,485 (GRCm39) |
H652Q |
probably benign |
Het |
| Actl6b |
A |
G |
5: 137,565,591 (GRCm39) |
I396V |
possibly damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,772 (GRCm39) |
|
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,436,251 (GRCm39) |
H989Q |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,925,804 (GRCm39) |
T377A |
probably benign |
Het |
| Ankmy2 |
G |
A |
12: 36,226,632 (GRCm39) |
V109M |
probably damaging |
Het |
| Anpep |
G |
A |
7: 79,483,423 (GRCm39) |
A689V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,818,917 (GRCm39) |
V1213I |
probably damaging |
Het |
| Capn1 |
A |
G |
19: 6,061,451 (GRCm39) |
F156L |
possibly damaging |
Het |
| Catsperb |
C |
A |
12: 101,476,721 (GRCm39) |
F408L |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,350 (GRCm39) |
L697Q |
possibly damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,989,386 (GRCm39) |
V281E |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,304 (GRCm39) |
T465S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,282 (GRCm39) |
|
probably null |
Het |
| Clcnkb |
T |
C |
4: 141,139,610 (GRCm39) |
T131A |
probably benign |
Het |
| Clec5a |
T |
A |
6: 40,558,793 (GRCm39) |
M98L |
probably benign |
Het |
| Cnga1 |
A |
T |
5: 72,768,201 (GRCm39) |
F162I |
probably benign |
Het |
| Cyp27b1 |
A |
T |
10: 126,884,267 (GRCm39) |
I40F |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,265,144 (GRCm39) |
S1027G |
probably benign |
Het |
| Entpd1 |
C |
A |
19: 40,727,283 (GRCm39) |
A448E |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
| Etfdh |
T |
C |
3: 79,511,422 (GRCm39) |
I520V |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
A |
5: 71,781,253 (GRCm39) |
P386L |
probably benign |
Het |
| Gckr |
G |
T |
5: 31,463,922 (GRCm39) |
V281L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,167 (GRCm39) |
T310A |
probably benign |
Het |
| Gjc2 |
C |
A |
11: 59,067,667 (GRCm39) |
V272L |
probably benign |
Het |
| Gm13441 |
G |
C |
2: 31,777,511 (GRCm39) |
|
silent |
Het |
| H2-DMb2 |
T |
A |
17: 34,367,582 (GRCm39) |
M1K |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,302,153 (GRCm39) |
Y13C |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,784,536 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,788,413 (GRCm39) |
F336S |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,359 (GRCm39) |
D747G |
probably benign |
Het |
| Krt78 |
T |
A |
15: 101,857,030 (GRCm39) |
E359V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,252 (GRCm39) |
D2195G |
probably benign |
Het |
| Matk |
C |
T |
10: 81,096,753 (GRCm39) |
L188F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,889,496 (GRCm39) |
I399T |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nap1l1 |
A |
T |
10: 111,326,891 (GRCm39) |
K151* |
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,964,327 (GRCm39) |
S426T |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,893,985 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,306 (GRCm39) |
T185A |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,369 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,101 (GRCm39) |
I158T |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,174 (GRCm39) |
H158R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,720,854 (GRCm39) |
D17G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,791,894 (GRCm39) |
V1194M |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,756,387 (GRCm39) |
I1615N |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,135,420 (GRCm39) |
N97K |
possibly damaging |
Het |
| Prrx2 |
C |
T |
2: 30,769,522 (GRCm39) |
R78C |
probably damaging |
Het |
| Pycr1 |
T |
A |
11: 120,532,988 (GRCm39) |
I91F |
probably damaging |
Het |
| Rap1a |
T |
C |
3: 105,645,081 (GRCm39) |
N87S |
possibly damaging |
Het |
| Sbk2 |
T |
G |
7: 4,960,627 (GRCm39) |
Y181S |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,808,712 (GRCm39) |
D874E |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,843 (GRCm39) |
H1057Q |
possibly damaging |
Het |
| Sfswap |
G |
A |
5: 129,619,107 (GRCm39) |
E486K |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,119 (GRCm39) |
V1213A |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,848,102 (GRCm39) |
I329K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,594,813 (GRCm39) |
N1186Y |
probably damaging |
Het |
| Ssbp3 |
A |
G |
4: 106,867,018 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
A |
1: 120,171,731 (GRCm39) |
I125F |
probably damaging |
Het |
| Synpr |
C |
A |
14: 13,608,788 (GRCm38) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,776,886 (GRCm39) |
L69P |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,880,314 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn1r29 |
G |
A |
6: 58,284,736 (GRCm39) |
S152N |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,550 (GRCm39) |
I183V |
probably benign |
Het |
| Wdr17 |
C |
G |
8: 55,092,503 (GRCm39) |
V1094L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,487,692 (GRCm39) |
I109V |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,717 (GRCm39) |
D7G |
probably benign |
Het |
| Zfp512 |
A |
T |
5: 31,637,408 (GRCm39) |
Q443L |
probably damaging |
Het |
| Zfp974 |
T |
A |
7: 27,610,230 (GRCm39) |
K498N |
possibly 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 |
|
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'- ACCTACAATGTCTGCCTACCAG -3'
(R):5'- AAACGTTCATCTCTGCGGAAAG -3'
Sequencing Primer
(F):5'- AAGGGTCCCTTCGTGGAG -3'
(R):5'- GAAAGCACTTTCAGCGTTCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation