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: 0.136)
|
Stock # |
R6360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34817723-34912649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34831881 bp (GRCm39)
|
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: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
probably damaging |
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 |
IGL03152:Grk4
|
APN |
5 |
34,902,701 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
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 |