Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Grk2'

578998

Institutional Source

Beutler Lab

Gene Symbol

Grk2

Ensembl Gene

ENSMUSG00000024858

Gene Name

G protein-coupled receptor kinase 2

Synonyms

betaARK1, Bark-1, Adrbk-1, beta ARK1, Adrbk1, beta-AR kinase-1, beta-adrenergic receptor kinase-1, beta ARK

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7468 (G1)

Quality Score

130.008

Status

Not validated

Chromosome

Chromosomal Location

4336029-4356250 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 4356063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000167511] [ENSMUST00000171123]

AlphaFold

Q99MK8

Predicted Effect

probably benign
Transcript: ENSMUST00000025791

SMART Domains

Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	12	133	3.17e-30	SMART
S_TKc	149	411	2.43e-86	SMART
S_TK_X	412	491	5.3e-9	SMART
PH	517	612	2.79e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088737

SMART Domains

Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART
S_TKc	191	453	2.43e-86	SMART
S_TK_X	454	533	5.3e-9	SMART
PH	559	654	2.79e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113837

SMART Domains

Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167511

SMART Domains

Protein: ENSMUSP00000129839
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
Pfam:RGS	74	134	4.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171123

SMART Domains

Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
RGS	54	175	3.17e-30	SMART
Pfam:Pkinase_Tyr	191	378	1.1e-21	PFAM
Pfam:Pkinase	191	381	4.9e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality likely due to heart failure. Homozygous mutant embryos are pale in appearance and exhibit ventricular hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	Het

Other mutations in Grk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Grk2	APN	19	4,339,339 (GRCm39)	critical splice donor site	probably null
IGL00927:Grk2	APN	19	4,337,982 (GRCm39)	missense	probably benign	0.09
IGL01465:Grk2	APN	19	4,340,886 (GRCm39)	missense	probably damaging	1.00
IGL02692:Grk2	APN	19	4,340,716 (GRCm39)	splice site	probably benign
IGL02870:Grk2	APN	19	4,340,430 (GRCm39)	missense	probably damaging	1.00
IGL03210:Grk2	APN	19	4,337,857 (GRCm39)	missense	probably benign	0.01
IGL03227:Grk2	APN	19	4,337,857 (GRCm39)	missense	probably benign	0.01
IGL03230:Grk2	APN	19	4,337,857 (GRCm39)	missense	probably benign	0.01
Greco	UTSW	19	4,340,630 (GRCm39)	critical splice donor site	probably null
PIT4480001:Grk2	UTSW	19	4,337,437 (GRCm39)	missense	possibly damaging	0.93
R0008:Grk2	UTSW	19	4,337,262 (GRCm39)	missense	probably damaging	0.99
R0371:Grk2	UTSW	19	4,341,614 (GRCm39)	splice site	probably null
R0426:Grk2	UTSW	19	4,340,628 (GRCm39)	splice site	probably null
R0494:Grk2	UTSW	19	4,341,347 (GRCm39)	missense	probably damaging	1.00
R0833:Grk2	UTSW	19	4,339,385 (GRCm39)	missense	probably damaging	1.00
R1240:Grk2	UTSW	19	4,340,707 (GRCm39)	missense	probably damaging	1.00
R1446:Grk2	UTSW	19	4,337,437 (GRCm39)	missense	possibly damaging	0.93
R1499:Grk2	UTSW	19	4,337,222 (GRCm39)	missense	probably benign	0.11
R1664:Grk2	UTSW	19	4,337,268 (GRCm39)	missense	possibly damaging	0.48
R1796:Grk2	UTSW	19	4,337,968 (GRCm39)	missense	probably benign	0.12
R1803:Grk2	UTSW	19	4,344,911 (GRCm39)	missense	probably damaging	1.00
R2021:Grk2	UTSW	19	4,340,698 (GRCm39)	missense	probably damaging	1.00
R3947:Grk2	UTSW	19	4,342,445 (GRCm39)	missense	possibly damaging	0.95
R4551:Grk2	UTSW	19	4,336,084 (GRCm39)	missense	possibly damaging	0.96
R4945:Grk2	UTSW	19	4,340,475 (GRCm39)	missense	probably damaging	1.00
R5299:Grk2	UTSW	19	4,342,799 (GRCm39)	missense	probably damaging	1.00
R5753:Grk2	UTSW	19	4,340,496 (GRCm39)	missense	probably damaging	1.00
R5754:Grk2	UTSW	19	4,340,496 (GRCm39)	missense	probably damaging	1.00
R5973:Grk2	UTSW	19	4,337,925 (GRCm39)	missense	possibly damaging	0.88
R6026:Grk2	UTSW	19	4,340,811 (GRCm39)	missense	probably damaging	0.99
R7117:Grk2	UTSW	19	4,340,630 (GRCm39)	critical splice donor site	probably null
R7764:Grk2	UTSW	19	4,337,391 (GRCm39)	missense	probably damaging	1.00
R8250:Grk2	UTSW	19	4,339,962 (GRCm39)	missense	probably damaging	1.00
R8789:Grk2	UTSW	19	4,338,511 (GRCm39)	missense	probably damaging	1.00
R9468:Grk2	UTSW	19	4,344,952 (GRCm39)	missense	probably damaging	1.00
R9508:Grk2	UTSW	19	4,341,636 (GRCm39)	missense	probably damaging	1.00
R9526:Grk2	UTSW	19	4,340,871 (GRCm39)	missense	probably damaging	1.00
R9694:Grk2	UTSW	19	4,338,511 (GRCm39)	missense	probably damaging	1.00
X0009:Grk2	UTSW	19	4,341,617 (GRCm39)	critical splice donor site	probably null
Z1176:Grk2	UTSW	19	4,337,673 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAATAATGGGGTCTCCGG -3'
(R):5'- TTGGTGGAAGACTCAGGTAAC -3'

Sequencing Primer
(F):5'- AGAAGGTCCCCGGAACCTG -3'
(R):5'- AACCAGGACTGAGACCCGTG -3'

Posted On

2019-10-07