Incidental Mutation 'IGL03152:Grk4'
| ID |
411134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grk4
|
| Ensembl Gene |
ENSMUSG00000052783 |
| Gene Name |
G protein-coupled receptor kinase 4 |
| Synonyms |
Gprk2l, A830025H08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL03152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34817723-34912649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34902701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 418
(S418P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001112]
|
| AlphaFold |
O70291 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001112
AA Change: S418P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
AA Change: S418P
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
171 |
1.61e-31 |
SMART |
|
S_TKc
|
186 |
448 |
7.78e-85 |
SMART |
|
S_TK_X
|
449 |
528 |
2.98e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153323
|
| Coding Region Coverage |
|
| 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 guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable, fertile and overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(2)
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
A |
5: 16,527,566 (GRCm39) |
N540K |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,646,693 (GRCm39) |
E43G |
probably damaging |
Het |
| Car14 |
A |
C |
3: 95,806,157 (GRCm39) |
C301W |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,217,458 (GRCm39) |
V9I |
possibly damaging |
Het |
| Edar |
A |
G |
10: 58,445,817 (GRCm39) |
F249S |
possibly damaging |
Het |
| Fads2b |
A |
G |
2: 85,330,648 (GRCm39) |
S220P |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,367,264 (GRCm39) |
T269K |
probably damaging |
Het |
| Gm4799 |
A |
G |
10: 82,790,797 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnh4 |
A |
G |
11: 100,636,598 (GRCm39) |
S774P |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,837,058 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Myef2l |
A |
T |
3: 10,153,334 (GRCm39) |
K34N |
probably benign |
Het |
| Or5al1 |
A |
T |
2: 85,990,030 (GRCm39) |
I228N |
possibly damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,344 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,868,036 (GRCm39) |
R265C |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,725,625 (GRCm39) |
K2R |
possibly damaging |
Het |
| Stx5a |
T |
C |
19: 8,727,138 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,012,486 (GRCm39) |
N2560I |
probably benign |
Het |
| Tuba3a |
A |
T |
6: 125,258,300 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,230,001 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,960,972 (GRCm39) |
S452P |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,469 (GRCm39) |
C173R |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,814,008 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Grk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Grk4
|
APN |
5 |
34,873,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00574:Grk4
|
APN |
5 |
34,852,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02127:Grk4
|
APN |
5 |
34,867,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02191:Grk4
|
APN |
5 |
34,912,533 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02227:Grk4
|
APN |
5 |
34,852,126 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03214:Grk4
|
APN |
5 |
34,909,553 (GRCm39) |
missense |
probably benign |
|
|
F5426:Grk4
|
UTSW |
5 |
34,902,503 (GRCm39) |
splice site |
probably benign |
|
|
R0110:Grk4
|
UTSW |
5 |
34,873,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0469:Grk4
|
UTSW |
5 |
34,873,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0671:Grk4
|
UTSW |
5 |
34,905,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1466:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1466:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1584:Grk4
|
UTSW |
5 |
34,852,094 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1605:Grk4
|
UTSW |
5 |
34,831,901 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1607:Grk4
|
UTSW |
5 |
34,888,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1903:Grk4
|
UTSW |
5 |
34,833,531 (GRCm39) |
splice site |
probably null |
|
|
R2352:Grk4
|
UTSW |
5 |
34,826,520 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4561:Grk4
|
UTSW |
5 |
34,852,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:Grk4
|
UTSW |
5 |
34,818,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Grk4
|
UTSW |
5 |
34,909,552 (GRCm39) |
missense |
probably benign |
|
|
R5412:Grk4
|
UTSW |
5 |
34,902,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Grk4
|
UTSW |
5 |
34,869,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Grk4
|
UTSW |
5 |
34,831,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Grk4
|
UTSW |
5 |
34,877,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Grk4
|
UTSW |
5 |
34,888,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Grk4
|
UTSW |
5 |
34,873,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7394:Grk4
|
UTSW |
5 |
34,908,962 (GRCm39) |
missense |
probably benign |
|
|
R7718:Grk4
|
UTSW |
5 |
34,852,160 (GRCm39) |
missense |
probably benign |
|
|
R7821:Grk4
|
UTSW |
5 |
34,867,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Grk4
|
UTSW |
5 |
34,833,482 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8218:Grk4
|
UTSW |
5 |
34,826,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8499:Grk4
|
UTSW |
5 |
34,902,690 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9026:Grk4
|
UTSW |
5 |
34,877,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Grk4
|
UTSW |
5 |
34,905,653 (GRCm39) |
missense |
|
|
|
X0064:Grk4
|
UTSW |
5 |
34,877,228 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2016-08-02 |
Incidental Mutation