Incidental Mutation 'IGL02156:Grk6'
| ID |
282235 |
| 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 # |
IGL02156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55597174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 36
(F36L)
|
| 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: F36L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: F36L
| 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: F36L
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: F36L
| 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: F36L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224653
AA Change: F4L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224995
AA Change: F36L
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225925
AA Change: F36L
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
| Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
| Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
| Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
| Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
| Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
| Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
| Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
| Fbxo21 |
A |
G |
5: 118,132,733 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
| Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
| Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
| Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
| Myo1h |
A |
C |
5: 114,491,972 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 61,807,109 (GRCm39) |
D41E |
possibly damaging |
Het |
| Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,965,799 (GRCm39) |
F814I |
probably benign |
Het |
| Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
| Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
| Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
| Sptbn5 |
G |
T |
2: 119,878,098 (GRCm39) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
| Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
| Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
| Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation