Incidental Mutation 'IGL02442:Grk6'
ID |
293485 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grk6
|
Ensembl Gene |
ENSMUSG00000074886 |
Gene Name |
G protein-coupled receptor kinase 6 |
Synonyms |
Gprk6 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02442
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 55606750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001115]
[ENSMUST00000099482]
[ENSMUST00000224118]
[ENSMUST00000224653]
[ENSMUST00000224995]
[ENSMUST00000225925]
|
AlphaFold |
O70293 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001115
|
SMART Domains |
Protein: ENSMUSP00000001115 Gene: ENSMUSG00000074886
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
RGS
|
52 |
171 |
1.81e-34 |
SMART |
S_TKc
|
186 |
448 |
8.4e-90 |
SMART |
S_TK_X
|
449 |
528 |
2.8e-8 |
SMART |
low complexity region
|
572 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099482
|
SMART Domains |
Protein: ENSMUSP00000097081 Gene: ENSMUSG00000074886
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
RGS
|
52 |
171 |
1.81e-34 |
SMART |
S_TKc
|
186 |
448 |
8.4e-90 |
SMART |
S_TK_X
|
449 |
528 |
2.8e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224653
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225925
|
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 their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Whereas, homozygous mutant mice are viable and show no gross anatomical or behavioral abnormalites under normal physiological conditions, they exhibit locomotor supersensitivity to psychostimulants including cocaine and amphetamine. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
Het |
|
Other mutations in Grk6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01733:Grk6
|
APN |
13 |
55,599,204 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02054:Grk6
|
APN |
13 |
55,602,210 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02156:Grk6
|
APN |
13 |
55,597,174 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02750:Grk6
|
APN |
13 |
55,599,356 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03340:Grk6
|
APN |
13 |
55,601,003 (GRCm39) |
missense |
probably damaging |
1.00 |
Damper
|
UTSW |
13 |
55,606,733 (GRCm39) |
missense |
probably damaging |
1.00 |
Piano
|
UTSW |
13 |
55,602,340 (GRCm39) |
critical splice donor site |
probably null |
|
R0080:Grk6
|
UTSW |
13 |
55,606,723 (GRCm39) |
missense |
probably benign |
0.00 |
R1077:Grk6
|
UTSW |
13 |
55,602,340 (GRCm39) |
critical splice donor site |
probably null |
|
R1530:Grk6
|
UTSW |
13 |
55,606,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R1531:Grk6
|
UTSW |
13 |
55,599,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Grk6
|
UTSW |
13 |
55,600,979 (GRCm39) |
splice site |
probably benign |
|
R1851:Grk6
|
UTSW |
13 |
55,599,591 (GRCm39) |
nonsense |
probably null |
|
R1874:Grk6
|
UTSW |
13 |
55,598,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R2142:Grk6
|
UTSW |
13 |
55,602,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R2875:Grk6
|
UTSW |
13 |
55,600,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R5187:Grk6
|
UTSW |
13 |
55,599,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Grk6
|
UTSW |
13 |
55,598,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7104:Grk6
|
UTSW |
13 |
55,602,219 (GRCm39) |
missense |
probably benign |
0.36 |
R7111:Grk6
|
UTSW |
13 |
55,606,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Grk6
|
UTSW |
13 |
55,598,820 (GRCm39) |
missense |
probably benign |
0.01 |
R7982:Grk6
|
UTSW |
13 |
55,599,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R8401:Grk6
|
UTSW |
13 |
55,599,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8468:Grk6
|
UTSW |
13 |
55,599,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Grk6
|
UTSW |
13 |
55,606,877 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9731:Grk6
|
UTSW |
13 |
55,607,640 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2015-04-16 |