Mutagenetix > Incidental Mutation

Incidental Mutation 'R0426:Grk2'

38697

Institutional Source

Beutler Lab

Gene Symbol

Grk2

Ensembl Gene

ENSMUSG00000024858

Gene Name

G protein-coupled receptor kinase 2

Synonyms

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

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0426 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

4286001-4306222 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4290600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

noncoding transcript
Transcript: ENSMUST00000164427

Predicted Effect

probably null
Transcript: ENSMUST00000165954

SMART Domains

Protein: ENSMUSP00000128177
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	169	5.8e-46	PFAM
Pfam:Pkinase_Tyr	2	155	9.3e-20	PFAM
S_TK_X	170	208	3.39e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167172

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 null
Transcript: ENSMUST00000168594

SMART Domains

Protein: ENSMUSP00000126025
Gene: ENSMUSG00000024858

Domain	Start	End	E-Value	Type
Blast:S_TKc	2	38	2e-18	BLAST
S_TK_X	39	85	2.95e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169991

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pxdn	A	G	12: 29,987,066	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Radil	T	C	5: 142,497,873	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612		probably benign	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	Het

Other mutations in Grk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Grk2	APN	19	4289311	critical splice donor site	probably null
IGL00927:Grk2	APN	19	4287954	missense	probably benign	0.09
IGL01465:Grk2	APN	19	4290858	missense	probably damaging	1.00
IGL02692:Grk2	APN	19	4290688	splice site	probably benign
IGL02870:Grk2	APN	19	4290402	missense	probably damaging	1.00
IGL03210:Grk2	APN	19	4287829	missense	probably benign	0.01
IGL03227:Grk2	APN	19	4287829	missense	probably benign	0.01
IGL03230:Grk2	APN	19	4287829	missense	probably benign	0.01
Greco	UTSW	19	4290602	critical splice donor site	probably null
PIT4480001:Grk2	UTSW	19	4287409	missense	possibly damaging	0.93
R0008:Grk2	UTSW	19	4287234	missense	probably damaging	0.99
R0371:Grk2	UTSW	19	4291586	splice site	probably null
R0494:Grk2	UTSW	19	4291319	missense	probably damaging	1.00
R0833:Grk2	UTSW	19	4289357	missense	probably damaging	1.00
R1240:Grk2	UTSW	19	4290679	missense	probably damaging	1.00
R1446:Grk2	UTSW	19	4287409	missense	possibly damaging	0.93
R1499:Grk2	UTSW	19	4287194	missense	probably benign	0.11
R1664:Grk2	UTSW	19	4287240	missense	possibly damaging	0.48
R1796:Grk2	UTSW	19	4287940	missense	probably benign	0.12
R1803:Grk2	UTSW	19	4294883	missense	probably damaging	1.00
R2021:Grk2	UTSW	19	4290670	missense	probably damaging	1.00
R3947:Grk2	UTSW	19	4292417	missense	possibly damaging	0.95
R4551:Grk2	UTSW	19	4286056	missense	possibly damaging	0.96
R4945:Grk2	UTSW	19	4290447	missense	probably damaging	1.00
R5299:Grk2	UTSW	19	4292771	missense	probably damaging	1.00
R5753:Grk2	UTSW	19	4290468	missense	probably damaging	1.00
R5754:Grk2	UTSW	19	4290468	missense	probably damaging	1.00
R5973:Grk2	UTSW	19	4287897	missense	possibly damaging	0.88
R6026:Grk2	UTSW	19	4290783	missense	probably damaging	0.99
R7117:Grk2	UTSW	19	4290602	critical splice donor site	probably null
R7468:Grk2	UTSW	19	4306035	start gained	probably benign
R7764:Grk2	UTSW	19	4287363	missense	probably damaging	1.00
R8789:Grk2	UTSW	19	4288483	missense	probably damaging	1.00
R9468:Grk2	UTSW	19	4294924	missense	probably damaging	1.00
R9508:Grk2	UTSW	19	4291608	missense	probably damaging	1.00
R9526:Grk2	UTSW	19	4290843	missense	probably damaging	1.00
X0009:Grk2	UTSW	19	4291589	critical splice donor site	probably null
Z1176:Grk2	UTSW	19	4287645	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTTCAAGGCCCAGGATGATCTC -3'
(R):5'- CGCTCTCTAAAGCACTGGTTGTGTC -3'

Sequencing Primer
(F):5'- ATGATCTCAGCGGCGTAG -3'
(R):5'- AACGAGCGGATCATGCTTTC -3'

Posted On

2013-05-23