Incidental Mutation 'R8751:Pkd2'
ID |
663836 |
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 |
068594-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8751 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104637151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 588
(M588K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
AlphaFold |
O35245 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: M588K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000084041 Gene: ENSMUSG00000034462 AA Change: M588K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
A |
15: 11,215,813 (GRCm39) |
I278N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,492 (GRCm39) |
W702R |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,748,574 (GRCm39) |
V468I |
possibly damaging |
Het |
Ahnak |
A |
C |
19: 8,987,509 (GRCm39) |
K2931T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,955,135 (GRCm39) |
V3480I |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,909,695 (GRCm39) |
I16F |
probably benign |
Het |
Cep72 |
G |
A |
13: 74,198,303 (GRCm39) |
S359F |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,838,100 (GRCm39) |
N844S |
unknown |
Het |
Col7a1 |
C |
T |
9: 108,796,730 (GRCm39) |
P1623S |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,880,838 (GRCm39) |
K117E |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,845,402 (GRCm39) |
C54R |
|
Het |
Dlg1 |
A |
G |
16: 31,600,648 (GRCm39) |
T211A |
probably benign |
Het |
Emc1 |
C |
A |
4: 139,097,279 (GRCm39) |
H724N |
possibly damaging |
Het |
Epg5 |
A |
C |
18: 78,008,223 (GRCm39) |
N784H |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,008,225 (GRCm39) |
N784K |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,008,224 (GRCm39) |
N784I |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,802,145 (GRCm39) |
E771G |
possibly damaging |
Het |
Exo1 |
T |
C |
1: 175,719,678 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,140,127 (GRCm39) |
M529K |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,646,134 (GRCm39) |
E276G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,889,015 (GRCm39) |
T1069I |
probably damaging |
Het |
Gapvd1 |
A |
C |
2: 34,568,078 (GRCm39) |
F1429V |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,117 (GRCm39) |
E510G |
possibly damaging |
Het |
Gm17087 |
A |
T |
17: 8,785,510 (GRCm39) |
H64Q |
probably damaging |
Het |
Gm19965 |
A |
T |
1: 116,749,867 (GRCm39) |
Y516F |
unknown |
Het |
Hdac5 |
A |
T |
11: 102,109,280 (GRCm39) |
I38N |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,501,838 (GRCm39) |
C4190* |
probably null |
Het |
Helb |
A |
T |
10: 119,925,412 (GRCm39) |
D988E |
probably benign |
Het |
Herc6 |
C |
T |
6: 57,639,359 (GRCm39) |
S909L |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,751,010 (GRCm39) |
V1692E |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,237,389 (GRCm39) |
Y1107H |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,330,724 (GRCm39) |
Y350F |
probably benign |
Het |
Lct |
T |
A |
1: 128,221,534 (GRCm39) |
T1570S |
probably benign |
Het |
Lias |
T |
A |
5: 65,557,193 (GRCm39) |
N203K |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,092 (GRCm39) |
N168S |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,860,192 (GRCm39) |
K538* |
probably null |
Het |
Lysmd4 |
A |
G |
7: 66,875,787 (GRCm39) |
D150G |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,739,462 (GRCm39) |
D572G |
probably benign |
Het |
Meiob |
T |
C |
17: 25,047,008 (GRCm39) |
|
probably null |
Het |
Ncor2 |
T |
C |
5: 125,115,964 (GRCm39) |
Y130C |
|
Het |
Ntmt2 |
T |
A |
1: 163,544,738 (GRCm39) |
T82S |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,409,072 (GRCm39) |
S118P |
probably benign |
Het |
Or10g3 |
A |
G |
14: 52,610,420 (GRCm39) |
F30S |
probably benign |
Het |
Or2t45 |
A |
G |
11: 58,669,213 (GRCm39) |
T87A |
probably benign |
Het |
Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
Parp14 |
A |
T |
16: 35,677,181 (GRCm39) |
M929K |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,006,229 (GRCm39) |
E778G |
probably benign |
Het |
Pgls |
T |
C |
8: 72,047,838 (GRCm39) |
V211A |
probably benign |
Het |
Pms1 |
T |
C |
1: 53,231,269 (GRCm39) |
N860S |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,888 (GRCm39) |
V89M |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,672 (GRCm39) |
H2426R |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,885,050 (GRCm39) |
N428K |
possibly damaging |
Het |
Slc12a4 |
C |
T |
8: 106,676,285 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,952,960 (GRCm39) |
I314V |
probably benign |
Het |
Slc29a1 |
C |
A |
17: 45,900,688 (GRCm39) |
V125F |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,085,981 (GRCm39) |
C583S |
probably damaging |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,719,129 (GRCm39) |
D874G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,729,723 (GRCm39) |
K132* |
probably null |
Het |
Tap1 |
A |
G |
17: 34,412,133 (GRCm39) |
K446R |
probably benign |
Het |
Tcam1 |
A |
T |
11: 106,176,443 (GRCm39) |
T390S |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,666,057 (GRCm39) |
N687D |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,251,852 (GRCm39) |
R16G |
possibly damaging |
Het |
Vcp |
A |
C |
4: 42,984,658 (GRCm39) |
L411W |
probably damaging |
Het |
Vma21-ps |
C |
A |
4: 52,496,973 (GRCm39) |
G91V |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 84,801,450 (GRCm39) |
C162Y |
probably benign |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,044,021 (GRCm39) |
T366A |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,066,190 (GRCm39) |
K54E |
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 |
|
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 |
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'- AAGGCTGTATTCTGACTCATCAAC -3'
(R):5'- ACTGGGCAATTTCATACATGTGC -3'
Sequencing Primer
(F):5'- TCTTCAGGGTGCCTCAAACAAATG -3'
(R):5'- CATACATGTGCAGAGAAATCTTTTC -3'
|
Posted On |
2021-03-08 |