Incidental Mutation 'R0080:Grk6'
ID |
19649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grk6
|
Ensembl Gene |
ENSMUSG00000074886 |
Gene Name |
G protein-coupled receptor kinase 6 |
Synonyms |
Gprk6 |
MMRRC Submission |
038367-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55606723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 474
(S474P)
|
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
AA Change: S508P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001115 Gene: ENSMUSG00000074886 AA Change: S508P
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: S508P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097081 Gene: ENSMUSG00000074886 AA Change: S508P
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
AA Change: S508P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224653
AA Change: S476P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224995
AA Change: S503P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225925
AA Change: S474P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
Validation Efficiency |
88% (175/200) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
probably 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCACCATGCTGATCTCTCCAAATC -3'
(R):5'- AGGGCAGACACTGCTAGGACTTAC -3'
Sequencing Primer
(F):5'- GCTGATCTCTCCAAATCAGGATG -3'
(R):5'- GACTGAAGAGTCTCTGTAGCAATCC -3'
|
Posted On |
2013-04-11 |