Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02750:Grk6'

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

55445072-55460927 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55451543 bp

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]

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: 14,548,791	K884R	probably benign	Het
Ano3	T	A	2: 110,665,984		probably benign	Het
Baz2b	C	A	2: 59,968,658	S374I	possibly damaging	Het
Brd4	G	A	17: 32,198,379		probably benign	Het
Cd3g	C	A	9: 44,971,310		probably benign	Het
Ckmt1	C	T	2: 121,363,615		probably benign	Het
Clcnkb	T	C	4: 141,405,362		probably null	Het
Dkkl1	C	T	7: 45,210,112		probably null	Het
Ehmt1	G	A	2: 24,863,869	T161I	probably damaging	Het
Ern2	A	G	7: 122,181,406		probably benign	Het
Fmnl2	T	C	2: 53,103,697	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,507,991	S25Y	probably benign	Het
Gemin7	C	T	7: 19,565,419	V84M	probably null	Het
Gm17654	A	G	14: 43,578,199		probably benign	Het
Gtf2ird2	A	G	5: 134,216,889	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,676,512	I581F	probably damaging	Het
Herc2	T	A	7: 56,204,379		probably benign	Het
Hook3	A	T	8: 26,095,754		probably benign	Het
Ints4	T	A	7: 97,517,757		probably null	Het
Kpna6	T	C	4: 129,661,377	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,978,684	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,851,280	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,531,683	D268G	probably damaging	Het
Mcm6	T	A	1: 128,343,472	Q470L	probably damaging	Het
Neb	T	C	2: 52,291,055	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,860,375	V285L	probably benign	Het
Olfr118	T	A	17: 37,672,609	C195*	probably null	Het
Olfr1281	A	G	2: 111,329,288	R290G	probably damaging	Het
Olfr307	T	A	7: 86,335,544	N284I	probably damaging	Het
Pdcd1	A	G	1: 94,039,544		probably benign	Het
Pnkp	A	G	7: 44,860,187		probably benign	Het
Pou4f2	A	T	8: 78,435,063	F304I	probably damaging	Het
Rita1	G	A	5: 120,609,651	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,621,939	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,603,164	T168A	probably benign	Het
Skint5	T	A	4: 113,539,362	M1205L	unknown	Het
Sox13	A	C	1: 133,383,796	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,198,491	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,633,389	P710Q	probably damaging	Het
Trpm5	T	C	7: 143,074,484	H1018R	possibly damaging	Het
Ubr2	A	T	17: 46,969,282	M647K	probably benign	Het
Ubr7	A	T	12: 102,771,278	T395S	possibly damaging	Het
Uri1	G	A	7: 37,967,481	R176*	probably null	Het
Vmn1r188	A	T	13: 22,088,730	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,397,634		probably benign	Het
Vmn2r2	C	A	3: 64,117,402	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,582,589	W62R	probably benign	Het
Zfp24	A	T	18: 24,017,353	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236	K1254R	probably null	Het

Other mutations in Grk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01733:Grk6	APN	13	55451391	missense	possibly damaging	0.92
IGL02054:Grk6	APN	13	55454397	missense	probably benign	0.03
IGL02156:Grk6	APN	13	55449361	missense	possibly damaging	0.86
IGL02442:Grk6	APN	13	55458937	splice site	probably benign
IGL03340:Grk6	APN	13	55453190	missense	probably damaging	1.00
Damper	UTSW	13	55458920	missense	probably damaging	1.00
Piano	UTSW	13	55454527	critical splice donor site	probably null
R0080:Grk6	UTSW	13	55458910	missense	probably benign	0.00
R1077:Grk6	UTSW	13	55454527	critical splice donor site	probably null
R1530:Grk6	UTSW	13	55458799	missense	probably damaging	0.99
R1531:Grk6	UTSW	13	55452154	missense	probably damaging	1.00
R1733:Grk6	UTSW	13	55453166	splice site	probably benign
R1851:Grk6	UTSW	13	55451778	nonsense	probably null
R1874:Grk6	UTSW	13	55450273	missense	probably damaging	1.00
R2142:Grk6	UTSW	13	55454364	missense	probably damaging	1.00
R2875:Grk6	UTSW	13	55452304	missense	probably damaging	1.00
R5187:Grk6	UTSW	13	55451706	missense	probably damaging	1.00
R7010:Grk6	UTSW	13	55450300	missense	possibly damaging	0.74
R7104:Grk6	UTSW	13	55454406	missense	probably benign	0.36
R7111:Grk6	UTSW	13	55458920	missense	probably damaging	1.00
R7769:Grk6	UTSW	13	55451007	missense	probably benign	0.01
R7982:Grk6	UTSW	13	55451706	missense	probably damaging	1.00
R8401:Grk6	UTSW	13	55452168	missense	possibly damaging	0.95
R8468:Grk6	UTSW	13	55451385	missense	probably damaging	1.00

Posted On

2015-04-16