Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Grk6'

652207

Institutional Source

Beutler Lab

Gene Symbol

Grk6

Ensembl Gene

ENSMUSG00000074886

Gene Name

G protein-coupled receptor kinase 6

Synonyms

Gprk6

MMRRC Submission

067877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8401 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

55592885-55608740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55599981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 258 (A258T)

Ref Sequence

ENSEMBL: ENSMUSP00000001115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]

AlphaFold

O70293

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001115
AA Change: A258T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: A258T

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: A258T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: A258T

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

possibly damaging
Transcript: ENSMUST00000224118
AA Change: A258T

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224653
AA Change: A226T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224995
AA Change: A253T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000225925

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,467,251 (GRCm39)	Y207C	probably damaging	Het
Ano8	T	C	8: 71,936,011 (GRCm39)	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,659,574 (GRCm39)	I463F	probably damaging	Het
Brca2	T	A	5: 150,475,817 (GRCm39)	I2509N	probably damaging	Het
Brinp3	T	C	1: 146,777,184 (GRCm39)	S544P	probably benign	Het
Chd1	A	G	17: 15,963,473 (GRCm39)	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,870,904 (GRCm39)	V330A	probably benign	Het
Dct	T	C	14: 118,280,615 (GRCm39)	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,214,199 (GRCm39)	D350G	probably damaging	Het
Ddx60	C	T	8: 62,409,277 (GRCm39)	L438F	possibly damaging	Het
Dnah17	T	A	11: 117,915,485 (GRCm39)	K4378M	probably damaging	Het
Drc7	C	T	8: 95,800,763 (GRCm39)	S595F	probably benign	Het
Epb41	C	T	4: 131,702,018 (GRCm39)	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,836,191 (GRCm39)	I389V	probably damaging	Het
Gan	C	A	8: 117,910,242 (GRCm39)	T57K	possibly damaging	Het
Glra3	T	C	8: 56,542,124 (GRCm39)	V289A	probably damaging	Het
Grk1	T	C	8: 13,457,846 (GRCm39)	F249L	probably damaging	Het
Hars1	T	C	18: 36,904,243 (GRCm39)	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,578,254 (GRCm39)	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,578,255 (GRCm39)	Q418P	probably damaging	Het
Klre1	T	A	6: 129,556,989 (GRCm39)	N30K	probably benign	Het
Lama5	G	T	2: 179,840,580 (GRCm39)	D606E	probably damaging	Het
Lca5l	T	C	16: 95,963,760 (GRCm39)	K393R	probably damaging	Het
Lmbrd2	A	T	15: 9,156,294 (GRCm39)	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,468,156 (GRCm39)	P935T	probably damaging	Het
Nes	T	C	3: 87,885,388 (GRCm39)	S1216P	possibly damaging	Het
Nim1k	A	G	13: 120,174,213 (GRCm39)	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,579,841 (GRCm39)	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548 (GRCm39)	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,247,174 (GRCm39)	L66*	probably null	Het
Or2b28	A	T	13: 21,531,997 (GRCm39)	I300L	probably benign	Het
Orm3	A	G	4: 63,274,467 (GRCm39)	S11G	possibly damaging	Het
Pkn3	C	A	2: 29,970,071 (GRCm39)	S126R	probably benign	Het
Pnpla8	T	A	12: 44,335,091 (GRCm39)	D442E	probably damaging	Het
Pop1	A	T	15: 34,508,755 (GRCm39)	T277S	probably damaging	Het
Prkag2	T	C	5: 25,068,868 (GRCm39)	T563A	probably benign	Het
Prkdc	T	A	16: 15,591,477 (GRCm39)	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,144,513 (GRCm39)	I30T	probably benign	Het
Prr9	T	G	3: 92,030,356 (GRCm39)	T95P	possibly damaging	Het
Ptgds	A	G	2: 25,359,669 (GRCm39)	M6T	unknown	Het
Rnaseh2b	T	A	14: 62,607,938 (GRCm39)	D250E	probably benign	Het
Rundc1	C	T	11: 101,324,383 (GRCm39)	T363M	probably damaging	Het
Ryr2	T	A	13: 11,683,821 (GRCm39)	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,053,124 (GRCm39)	I206T	probably benign	Het
Skic8	A	T	9: 54,635,539 (GRCm39)	S21T	probably benign	Het
Slitrk6	A	G	14: 110,989,453 (GRCm39)	S85P	possibly damaging	Het
Spi1	A	G	2: 90,943,650 (GRCm39)	N65D	probably benign	Het
Stx1b	A	T	7: 127,406,945 (GRCm39)		probably benign	Het
Trav5-4	G	A	14: 53,941,750 (GRCm39)	S41N	probably benign	Het
Tspan14	T	C	14: 40,630,049 (GRCm39)	D260G	probably benign	Het
Ube4a	T	C	9: 44,852,527 (GRCm39)	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,275,062 (GRCm39)	T1845I	probably benign	Het
Vps18	T	C	2: 119,127,973 (GRCm39)	L932P	probably damaging	Het
Zfp62	T	A	11: 49,108,218 (GRCm39)	C770S	probably damaging	Het
Zfp672	T	C	11: 58,207,628 (GRCm39)	K231R	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
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
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'- AGTGCTATTCCAGGCTCAGG -3'
(R):5'- AAACCTAACTGCTGTCGCTGTC -3'

Sequencing Primer
(F):5'- GAAGCCTGCTGGGTCCTAAG -3'
(R):5'- TGCTGTCGCTGTCCAGGAAG -3'

Posted On

2020-10-20