Incidental Mutation 'IGL02750:Grk6'
| ID |
306236 |
| 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 # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55599356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 186
(F186S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001115]
[ENSMUST00000099482]
[ENSMUST00000224118]
[ENSMUST00000224653]
[ENSMUST00000224995]
[ENSMUST00000225925]
|
| AlphaFold |
O70293 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001115
AA Change: F186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: F186S
| 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 damaging
Transcript: ENSMUST00000099482
AA Change: F186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: F186S
| 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 damaging
Transcript: ENSMUST00000224118
AA Change: F186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224653
AA Change: F154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224995
AA Change: F186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225925
AA Change: F186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
|---|
| Amotl1 |
T |
C |
9: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
| Brd4 |
G |
A |
17: 32,417,353 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,673 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,753,881 (GRCm39) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 52,993,709 (GRCm39) |
I368T |
possibly damaging |
Het |
| Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,074,587 (GRCm39) |
T209A |
possibly damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
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 |
|
IGL02442:Grk6
|
APN |
13 |
55,606,750 (GRCm39) |
splice site |
probably benign |
|
|
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