Incidental Mutation 'R5924:Pkd2'
| ID |
461718 |
| 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 |
044119-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104607316-104653685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104646424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 744
(K744E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086831
AA Change: K744E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: K744E
| 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: ENSMUST00000133540
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
C |
18: 10,706,085 (GRCm39) |
Y76C |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,058,982 (GRCm39) |
T204I |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,147,984 (GRCm39) |
I984F |
probably damaging |
Het |
| Art3 |
A |
T |
5: 92,560,091 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,742 (GRCm39) |
M839V |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,874,496 (GRCm39) |
D856A |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,938,430 (GRCm39) |
L506Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,554,205 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,137 (GRCm39) |
F221Y |
possibly damaging |
Het |
| Dcakd |
C |
A |
11: 102,890,646 (GRCm39) |
R47L |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,822,197 (GRCm39) |
V417A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,307,473 (GRCm39) |
T1734S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,332,529 (GRCm39) |
M227K |
probably damaging |
Het |
| Eif4g3 |
T |
G |
4: 137,929,237 (GRCm39) |
N1628K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,533 (GRCm39) |
Y439* |
probably null |
Het |
| Esrp1 |
G |
T |
4: 11,361,174 (GRCm39) |
T324K |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,992,442 (GRCm39) |
Q418L |
unknown |
Het |
| Ggnbp2 |
A |
G |
11: 84,749,363 (GRCm39) |
S144P |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,032,563 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
G |
19: 6,916,729 (GRCm39) |
L228P |
probably damaging |
Het |
| Gpt2 |
C |
A |
8: 86,219,633 (GRCm39) |
S26R |
probably damaging |
Het |
| Hras |
C |
T |
7: 140,772,374 (GRCm39) |
E91K |
possibly damaging |
Het |
| Ighv1-36 |
G |
A |
12: 114,843,777 (GRCm39) |
P28S |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,064,203 (GRCm39) |
T807M |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,202,453 (GRCm39) |
T365A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,594,658 (GRCm39) |
S795T |
possibly damaging |
Het |
| Magi2 |
A |
C |
5: 20,816,067 (GRCm39) |
M1128L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,961,854 (GRCm39) |
|
probably null |
Het |
| Mier1 |
T |
A |
4: 103,016,899 (GRCm39) |
L380* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,230,750 (GRCm39) |
Y118C |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,421 (GRCm39) |
M277K |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,403 (GRCm39) |
V473A |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,347,320 (GRCm39) |
N164K |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,187 (GRCm39) |
Q353L |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,199 (GRCm39) |
M1K |
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,254 (GRCm39) |
V205A |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,139 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,891 (GRCm39) |
I162V |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,311,634 (GRCm39) |
S434P |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,023,389 (GRCm39) |
Q256* |
probably null |
Het |
| Pik3ap1 |
A |
C |
19: 41,284,895 (GRCm39) |
F597V |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,162,305 (GRCm39) |
T729A |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,813,582 (GRCm39) |
L652P |
probably damaging |
Het |
| Sebox |
T |
C |
11: 78,395,017 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
T |
9: 110,403,112 (GRCm39) |
I1918F |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 86,929,825 (GRCm39) |
|
probably null |
Het |
| Slc28a1 |
G |
T |
7: 80,765,360 (GRCm39) |
G25V |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,990 (GRCm39) |
F259L |
possibly damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,923,898 (GRCm39) |
C37* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,581,622 (GRCm39) |
D188G |
probably damaging |
Het |
| Stim2 |
A |
G |
5: 54,259,985 (GRCm39) |
K156E |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,572,246 (GRCm39) |
I653T |
probably damaging |
Het |
| Tacr3 |
G |
T |
3: 134,638,060 (GRCm39) |
D406Y |
possibly damaging |
Het |
| Utp20 |
G |
A |
10: 88,651,784 (GRCm39) |
R400C |
probably benign |
Het |
| V1rd19 |
C |
T |
7: 23,703,374 (GRCm39) |
S280L |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,685 (GRCm39) |
C700Y |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,803,543 (GRCm39) |
C514S |
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 |
|
|
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'- AGCCATCATCTGCTAAGCATC -3'
(R):5'- TTTATTCTGCACGTGGTCCAGC -3'
Sequencing Primer
(F):5'- GCATCAAACTTTCAATAGTTCCACAG -3'
(R):5'- TGGTCCAGCCCTAACACTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation