Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Grk5'

189464

Institutional Source

Beutler Lab

Gene Symbol

Grk5

Ensembl Gene

ENSMUSG00000003228

Gene Name

G protein-coupled receptor kinase 5

Synonyms

Gprk5

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60878187-61084406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61065221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 295 (I295T)

Ref Sequence

ENSEMBL: ENSMUSP00000003313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003313] [ENSMUST00000122927]

AlphaFold

Q8VEB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000003313
AA Change: I295T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003313
Gene: ENSMUSG00000003228
AA Change: I295T

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
RGS	52	171	1.21e-35	SMART
S_TKc	186	448	9.44e-84	SMART
S_TK_X	449	528	1.08e-9	SMART
low complexity region	561	590	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122927

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a decrease in thermal pain sensation. Mice homozygous for a knock-out allele exhibit decreased response of heart to induced stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Grk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02565:Grk5	APN	19	61,057,809 (GRCm39)	missense	probably damaging	0.99
IGL03183:Grk5	APN	19	61,057,774 (GRCm39)	missense	probably damaging	0.99
R0257:Grk5	UTSW	19	61,065,068 (GRCm39)	intron	probably benign
R1565:Grk5	UTSW	19	61,078,410 (GRCm39)	missense	probably damaging	0.99
R1603:Grk5	UTSW	19	61,057,800 (GRCm39)	missense	probably benign	0.06
R1672:Grk5	UTSW	19	61,074,653 (GRCm39)	splice site	probably null
R1793:Grk5	UTSW	19	61,065,200 (GRCm39)	missense	probably damaging	1.00
R1822:Grk5	UTSW	19	61,078,410 (GRCm39)	missense	probably damaging	0.99
R1824:Grk5	UTSW	19	61,078,410 (GRCm39)	missense	probably damaging	0.99
R1876:Grk5	UTSW	19	61,071,663 (GRCm39)	missense	probably damaging	1.00
R4320:Grk5	UTSW	19	61,080,383 (GRCm39)	nonsense	probably null
R4828:Grk5	UTSW	19	60,976,213 (GRCm39)	nonsense	probably null
R5085:Grk5	UTSW	19	61,065,122 (GRCm39)	missense	probably damaging	1.00
R6237:Grk5	UTSW	19	61,078,380 (GRCm39)	missense	probably damaging	1.00
R6310:Grk5	UTSW	19	61,069,349 (GRCm39)	missense	probably damaging	0.96
R6736:Grk5	UTSW	19	60,879,064 (GRCm39)	missense	probably damaging	0.99
R7061:Grk5	UTSW	19	61,034,530 (GRCm39)	missense	probably benign	0.00
R7248:Grk5	UTSW	19	60,879,045 (GRCm39)	missense	probably benign	0.05
R7583:Grk5	UTSW	19	61,071,642 (GRCm39)	missense	possibly damaging	0.85
R7852:Grk5	UTSW	19	61,069,383 (GRCm39)	critical splice donor site	probably null
R8810:Grk5	UTSW	19	61,078,432 (GRCm39)	missense	possibly damaging	0.69
R9082:Grk5	UTSW	19	61,034,567 (GRCm39)	missense	possibly damaging	0.95
R9729:Grk5	UTSW	19	61,078,467 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGTCAACCTGGCCTATGCCTATG -3'
(R):5'- GTGATGCTCTTGGACAGTGACTCTC -3'

Sequencing Primer
(F):5'- TGGCCTATGCCTATGAAACC -3'
(R):5'- GTTCCAGGTAGTAGTCACCAG -3'

Posted On

2014-05-14