Incidental Mutation 'IGL01733:Grk6'
| ID |
105564 |
| 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 # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55599204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 168
(N168T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001115]
[ENSMUST00000099482]
[ENSMUST00000224118]
[ENSMUST00000224653]
[ENSMUST00000224995]
[ENSMUST00000225925]
|
| AlphaFold |
O70293 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001115
AA Change: N168T
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: N168T
| 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
AA Change: N168T
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: N168T
| 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 |
noncoding transcript
Transcript: ENSMUST00000185186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224118
AA Change: N168T
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224653
AA Change: N136T
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224995
AA Change: N168T
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225925
AA Change: N168T
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
| Other mutations in Grk6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02442:Grk6
|
APN |
13 |
55,606,750 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation