Incidental Mutation 'R5531:Prkg2'
| ID |
433689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkg2
|
| Ensembl Gene |
ENSMUSG00000029334 |
| Gene Name |
protein kinase, cGMP-dependent, type II |
| Synonyms |
cGK-II, Prkgr2 |
| MMRRC Submission |
043089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R5531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
99077632-99185042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99115593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 543
(R543G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031277]
[ENSMUST00000161490]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031277
AA Change: R514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031277
Gene: ENSMUSG00000029334
AA Change: R514G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
85 |
N/A |
INTRINSIC |
|
cNMP
|
168 |
284 |
2.82e-19 |
SMART |
|
cNMP
|
286 |
409 |
3.02e-28 |
SMART |
|
S_TKc
|
424 |
682 |
9.46e-75 |
SMART |
|
S_TK_X
|
683 |
733 |
9.83e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160765
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161490
AA Change: R543G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124963
Gene: ENSMUSG00000029334
AA Change: R543G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
85 |
N/A |
INTRINSIC |
|
cNMP
|
168 |
284 |
2.82e-19 |
SMART |
|
cNMP
|
286 |
409 |
3.02e-28 |
SMART |
|
S_TKc
|
453 |
711 |
1.19e-89 |
SMART |
|
S_TK_X
|
712 |
762 |
9.83e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.7998 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
| Validation Efficiency |
97% (64/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein plays a role in the regulation of fluid balance in the intestine. A similar protein in mouse is thought to regulate differentiation and proliferation of cells in the colon. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
| Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
| Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,754,913 (GRCm39) |
N221S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,680,330 (GRCm39) |
E381G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,753,482 (GRCm39) |
C492Y |
probably damaging |
Het |
| G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
| Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
| Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
| Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
| Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
| Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
| Lrrc8d |
T |
C |
5: 105,945,536 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
| Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
| Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
| Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
| Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
| Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
| Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
| Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
| Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,657 (GRCm39) |
D773E |
probably damaging |
Het |
| Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
| Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
| Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
| Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Prkg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Prkg2
|
APN |
5 |
99,172,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01063:Prkg2
|
APN |
5 |
99,117,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02060:Prkg2
|
APN |
5 |
99,172,374 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02666:Prkg2
|
APN |
5 |
99,145,378 (GRCm39) |
splice site |
probably benign |
|
|
IGL02992:Prkg2
|
APN |
5 |
99,172,365 (GRCm39) |
missense |
probably benign |
|
|
IGL03040:Prkg2
|
APN |
5 |
99,120,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
devito
|
UTSW |
5 |
99,114,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
Goldwyn
|
UTSW |
5 |
99,090,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
kilmer
|
UTSW |
5 |
99,095,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pulp
|
UTSW |
5 |
99,124,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
travolta
|
UTSW |
5 |
99,117,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Prkg2
|
UTSW |
5 |
99,117,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Prkg2
|
UTSW |
5 |
99,120,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0044:Prkg2
|
UTSW |
5 |
99,120,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0115:Prkg2
|
UTSW |
5 |
99,142,514 (GRCm39) |
splice site |
probably null |
|
|
R0403:Prkg2
|
UTSW |
5 |
99,142,504 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0452:Prkg2
|
UTSW |
5 |
99,145,379 (GRCm39) |
splice site |
probably benign |
|
|
R0481:Prkg2
|
UTSW |
5 |
99,142,514 (GRCm39) |
splice site |
probably null |
|
|
R1194:Prkg2
|
UTSW |
5 |
99,119,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:Prkg2
|
UTSW |
5 |
99,142,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Prkg2
|
UTSW |
5 |
99,095,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Prkg2
|
UTSW |
5 |
99,172,664 (GRCm39) |
missense |
probably benign |
|
|
R2031:Prkg2
|
UTSW |
5 |
99,172,310 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2176:Prkg2
|
UTSW |
5 |
99,114,368 (GRCm39) |
splice site |
probably benign |
|
|
R3607:Prkg2
|
UTSW |
5 |
99,095,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Prkg2
|
UTSW |
5 |
99,145,354 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3960:Prkg2
|
UTSW |
5 |
99,145,354 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4012:Prkg2
|
UTSW |
5 |
99,127,674 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4794:Prkg2
|
UTSW |
5 |
99,114,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Prkg2
|
UTSW |
5 |
99,129,002 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4867:Prkg2
|
UTSW |
5 |
99,172,568 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5182:Prkg2
|
UTSW |
5 |
99,172,568 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5226:Prkg2
|
UTSW |
5 |
99,124,321 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5274:Prkg2
|
UTSW |
5 |
99,117,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Prkg2
|
UTSW |
5 |
99,091,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5619:Prkg2
|
UTSW |
5 |
99,136,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Prkg2
|
UTSW |
5 |
99,082,223 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6925:Prkg2
|
UTSW |
5 |
99,114,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7971:Prkg2
|
UTSW |
5 |
99,079,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Prkg2
|
UTSW |
5 |
99,114,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Prkg2
|
UTSW |
5 |
99,117,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Prkg2
|
UTSW |
5 |
99,090,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8825:Prkg2
|
UTSW |
5 |
99,090,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8932:Prkg2
|
UTSW |
5 |
99,095,299 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8950:Prkg2
|
UTSW |
5 |
99,119,815 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9026:Prkg2
|
UTSW |
5 |
99,114,386 (GRCm39) |
missense |
probably benign |
|
|
R9210:Prkg2
|
UTSW |
5 |
99,095,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Prkg2
|
UTSW |
5 |
99,172,257 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9627:Prkg2
|
UTSW |
5 |
99,079,869 (GRCm39) |
makesense |
probably null |
|
|
Z1088:Prkg2
|
UTSW |
5 |
99,172,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTATTCCTGAAACTCTCTAG -3'
(R):5'- CATTGTTTCGAACGCTGCTG -3'
Sequencing Primer
(F):5'- TGGCAGATTACTTTACAAGACCC -3'
(R):5'- TGCTGGTGGTAGCCTAACC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation