Incidental Mutation 'R1077:Grk6'
ID |
85702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grk6
|
Ensembl Gene |
ENSMUSG00000074886 |
Gene Name |
G protein-coupled receptor kinase 6 |
Synonyms |
Gprk6 |
MMRRC Submission |
039163-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55592885-55608740 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 55602340 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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000185186
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224532
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224653
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224995
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225925
|
Meta Mutation Damage Score |
0.9480 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
Validation Efficiency |
100% (40/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
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 |
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 |
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'- TACACGTTCAGTCCTGACTGGTGG -3'
(R):5'- TGAAAGTGACTTGGCCCTTGCTC -3'
Sequencing Primer
(F):5'- GACTGGTGGGCGCTAGG -3'
(R):5'- TACATCAGGCTTAAAAGGTGGCTC -3'
|
Posted On |
2013-11-18 |