Incidental Mutation 'R6360:Grk4'
| ID |
513057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk4
|
| Ensembl Gene |
ENSMUSG00000052783 |
| Gene Name |
G protein-coupled receptor kinase 4 |
| Synonyms |
Gprk2l, A830025H08Rik |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R6360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34660379-34755305 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34674537 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 50
(K50M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001112]
[ENSMUST00000074651]
|
| AlphaFold |
O70291 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001112
AA Change: K50M
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
AA Change: K50M
| 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 |
probably damaging
Transcript: ENSMUST00000074651
AA Change: K50M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074223
Gene: ENSMUSG00000052783
AA Change: K50M
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
163 |
1.39e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148588
AA Change: K42M
|
| SMART Domains |
Protein: ENSMUSP00000122826
Gene: ENSMUSG00000052783
AA Change: K42M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3NYO|B
|
2 |
80 |
2e-27 |
PDB |
|
SCOP:d1dk8a_
|
32 |
79 |
3e-5 |
SMART |
|
Blast:RGS
|
44 |
81 |
3e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201216
|
| Meta Mutation Damage Score |
0.1300 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,259,202 (GRCm38) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,838,066 (GRCm38) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,432,611 (GRCm38) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,460 (GRCm38) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,438,429 (GRCm38) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,431,736 (GRCm38) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,597,455 (GRCm38) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,710,266 (GRCm38) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,493,142 (GRCm38) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,686,709 (GRCm38) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,969,662 (GRCm38) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm38) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,290,601 (GRCm38) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,526,883 (GRCm38) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,083,730 (GRCm38) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,792,539 (GRCm38) |
S509P |
possibly damaging |
Het |
| Gm15922 |
A |
T |
7: 3,736,504 (GRCm38) |
L455Q |
probably damaging |
Het |
| Gm17067 |
A |
C |
7: 42,708,482 (GRCm38) |
S199A |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 81,902,852 (GRCm38) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,027,129 (GRCm38) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,779,206 (GRCm38) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 25,861,180 (GRCm38) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,173,270 (GRCm38) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,832,155 (GRCm38) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,389,955 (GRCm38) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,411,109 (GRCm38) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,797,262 (GRCm38) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,072,583 (GRCm38) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,544,713 (GRCm38) |
Q89K |
possibly damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,422,159 (GRCm38) |
I181F |
probably benign |
Het |
| Pcgf2 |
T |
A |
11: 97,692,409 (GRCm38) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,300,983 (GRCm38) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,655,690 (GRCm38) |
V180G |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,214,747 (GRCm38) |
V22D |
probably benign |
Het |
| Prkn |
T |
C |
17: 12,004,052 (GRCm38) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 34,901,433 (GRCm38) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,680,965 (GRCm38) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,361,419 (GRCm38) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm38) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,479,481 (GRCm38) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,515,669 (GRCm38) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,760,571 (GRCm38) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 5,172,995 (GRCm38) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,113,806 (GRCm38) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,176,728 (GRCm38) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 113,961,347 (GRCm38) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,400,835 (GRCm38) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,214,629 (GRCm38) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,486,756 (GRCm38) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,633,966 (GRCm38) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 64,000,733 (GRCm38) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,769,441 (GRCm38) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 11,084,792 (GRCm38) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,663,082 (GRCm38) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm38) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,683,526 (GRCm38) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,092,341 (GRCm38) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,391,455 (GRCm38) |
D471G |
probably damaging |
Het |
|
| Other mutations in Grk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Grk4
|
APN |
5 |
34,716,290 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00574:Grk4
|
APN |
5 |
34,694,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02127:Grk4
|
APN |
5 |
34,710,186 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02191:Grk4
|
APN |
5 |
34,755,189 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02227:Grk4
|
APN |
5 |
34,694,782 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03152:Grk4
|
APN |
5 |
34,745,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03214:Grk4
|
APN |
5 |
34,752,209 (GRCm38) |
missense |
probably benign |
|
|
F5426:Grk4
|
UTSW |
5 |
34,745,159 (GRCm38) |
splice site |
probably benign |
|
|
R0110:Grk4
|
UTSW |
5 |
34,716,213 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0469:Grk4
|
UTSW |
5 |
34,716,213 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0671:Grk4
|
UTSW |
5 |
34,748,267 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1466:Grk4
|
UTSW |
5 |
34,694,750 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1466:Grk4
|
UTSW |
5 |
34,694,750 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1584:Grk4
|
UTSW |
5 |
34,694,750 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1605:Grk4
|
UTSW |
5 |
34,674,557 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1607:Grk4
|
UTSW |
5 |
34,731,538 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1903:Grk4
|
UTSW |
5 |
34,676,187 (GRCm38) |
splice site |
probably null |
|
|
R2352:Grk4
|
UTSW |
5 |
34,669,176 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4561:Grk4
|
UTSW |
5 |
34,694,813 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4580:Grk4
|
UTSW |
5 |
34,660,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4807:Grk4
|
UTSW |
5 |
34,752,208 (GRCm38) |
missense |
probably benign |
|
|
R5412:Grk4
|
UTSW |
5 |
34,745,268 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5905:Grk4
|
UTSW |
5 |
34,711,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6604:Grk4
|
UTSW |
5 |
34,719,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6865:Grk4
|
UTSW |
5 |
34,731,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7265:Grk4
|
UTSW |
5 |
34,716,264 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7394:Grk4
|
UTSW |
5 |
34,751,618 (GRCm38) |
missense |
probably benign |
|
|
R7718:Grk4
|
UTSW |
5 |
34,694,816 (GRCm38) |
missense |
probably benign |
|
|
R7821:Grk4
|
UTSW |
5 |
34,710,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8074:Grk4
|
UTSW |
5 |
34,676,138 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8218:Grk4
|
UTSW |
5 |
34,669,196 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8499:Grk4
|
UTSW |
5 |
34,745,346 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9026:Grk4
|
UTSW |
5 |
34,719,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9068:Grk4
|
UTSW |
5 |
34,748,309 (GRCm38) |
missense |
|
|
|
X0064:Grk4
|
UTSW |
5 |
34,719,884 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTAAGCACTTTACCAACTCACATC -3'
(R):5'- ACTACCAACTCTGTCAGGCC -3'
Sequencing Primer
(F):5'- ACTTTACCAACTCACATCTCTCCCAG -3'
(R):5'- CTGTCAGGCCCAGATTTTAATATTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation