Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Grk3'

448259

Institutional Source

Beutler Lab

Gene Symbol

Grk3

Ensembl Gene

ENSMUSG00000042249

Gene Name

G protein-coupled receptor kinase 3

Synonyms

Adrbk-2, beta ARK2, 4833444A01Rik, Bark-2, Adrbk2

MMRRC Submission

043384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5790 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

113058344-113163518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113114842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 126 (K126T)

Ref Sequence

ENSEMBL: ENSMUSP00000143427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065167] [ENSMUST00000197776] [ENSMUST00000197888] [ENSMUST00000200332]

AlphaFold

Q3UYH7

Predicted Effect

probably benign
Transcript: ENSMUST00000065167
AA Change: K126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: K126T

Domain	Start	End	E-Value	Type
RGS	54	175	1.44e-28	SMART
S_TKc	191	453	8.94e-85	SMART
S_TK_X	454	530	2.19e-10	SMART
PH	559	654	8.45e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197776
AA Change: K126T

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143427
Gene: ENSMUSG00000042249
AA Change: K126T

Domain	Start	End	E-Value	Type
RGS	54	170	7.71e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197888
AA Change: K84T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: K84T

Domain	Start	End	E-Value	Type
RGS	12	133	1.44e-28	SMART
S_TKc	149	411	8.94e-85	SMART
S_TK_X	412	488	2.19e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200332

SMART Domains

Protein: ENSMUSP00000142926
Gene: ENSMUSG00000042249

Domain	Start	End	E-Value	Type
PDB:3V5W\|A	1	88	6e-42	PDB
SCOP:d1dk8a_	48	88	2e-4	SMART
Blast:RGS	54	88	1e-18	BLAST

Meta Mutation Damage Score

0.0714

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation of this gene appear normal and are fertile, but exhibit a lack of odorant receptor-mediated desensitization in the olfactory epithelium. [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
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,113,650 (GRCm39)	L331Q	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,184,757 (GRCm39)	D1118E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,293,827 (GRCm39)	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Nek3	C	A	8: 22,621,313 (GRCm39)	Q405H	probably damaging	Het
Nek3	T	A	8: 22,621,314 (GRCm39)	Q403L	probably damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
Or6c66	A	G	10: 129,461,757 (GRCm39)	Y58H	probably damaging	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	probably damaging	Het

Other mutations in Grk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Grk3	APN	5	113,133,685 (GRCm39)	missense	probably damaging	1.00
IGL01359:Grk3	APN	5	113,085,626 (GRCm39)	missense	probably damaging	1.00
IGL02318:Grk3	APN	5	113,085,669 (GRCm39)	missense	probably damaging	1.00
IGL02612:Grk3	APN	5	113,117,100 (GRCm39)	missense	probably benign	0.27
R0142:Grk3	UTSW	5	113,062,919 (GRCm39)	missense	probably damaging	1.00
R0589:Grk3	UTSW	5	113,076,629 (GRCm39)	splice site	probably benign
R0607:Grk3	UTSW	5	113,067,919 (GRCm39)	missense	probably damaging	1.00
R1459:Grk3	UTSW	5	113,062,878 (GRCm39)	missense	probably benign	0.10
R1554:Grk3	UTSW	5	113,117,135 (GRCm39)	missense	possibly damaging	0.76
R1640:Grk3	UTSW	5	113,163,248 (GRCm39)	missense	probably benign	0.36
R1657:Grk3	UTSW	5	113,114,848 (GRCm39)	missense	probably damaging	1.00
R1789:Grk3	UTSW	5	113,089,584 (GRCm39)	missense	probably damaging	1.00
R2401:Grk3	UTSW	5	113,062,849 (GRCm39)	missense	probably benign
R3735:Grk3	UTSW	5	113,101,697 (GRCm39)	missense	probably benign	0.00
R4024:Grk3	UTSW	5	113,062,850 (GRCm39)	missense	possibly damaging	0.77
R4025:Grk3	UTSW	5	113,062,850 (GRCm39)	missense	possibly damaging	0.77
R4392:Grk3	UTSW	5	113,068,002 (GRCm39)	missense	probably damaging	1.00
R4439:Grk3	UTSW	5	113,094,543 (GRCm39)	splice site	probably null
R4589:Grk3	UTSW	5	113,089,584 (GRCm39)	missense	possibly damaging	0.87
R4646:Grk3	UTSW	5	113,077,586 (GRCm39)	missense	probably benign	0.04
R5154:Grk3	UTSW	5	113,089,583 (GRCm39)	missense	probably damaging	1.00
R5462:Grk3	UTSW	5	113,117,074 (GRCm39)	missense	probably damaging	1.00
R5764:Grk3	UTSW	5	113,114,776 (GRCm39)	critical splice donor site	probably null
R6516:Grk3	UTSW	5	113,109,415 (GRCm39)	intron	probably benign
R6848:Grk3	UTSW	5	113,133,641 (GRCm39)	missense	probably damaging	0.98
R7857:Grk3	UTSW	5	113,109,427 (GRCm39)	missense	unknown
R7873:Grk3	UTSW	5	113,077,552 (GRCm39)	missense	probably benign	0.03
R8029:Grk3	UTSW	5	113,109,508 (GRCm39)	missense	probably benign
R8132:Grk3	UTSW	5	113,109,355 (GRCm39)	missense	unknown
R8204:Grk3	UTSW	5	113,105,225 (GRCm39)	missense	probably benign	0.17
R8903:Grk3	UTSW	5	113,066,697 (GRCm39)	missense	possibly damaging	0.89
R9450:Grk3	UTSW	5	113,062,913 (GRCm39)	missense	probably benign	0.06
R9794:Grk3	UTSW	5	113,121,448 (GRCm39)	critical splice acceptor site	probably null
RF021:Grk3	UTSW	5	113,089,554 (GRCm39)	missense	probably benign	0.20
Z1176:Grk3	UTSW	5	113,105,180 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGTCAGCACTCACAGTAG -3'
(R):5'- ATGATCTACAGATATGCCACCTCC -3'

Sequencing Primer
(F):5'- CACAGTAGGTGGCAGCAAG -3'
(R):5'- GCCACCTCCTAATTTTTAAAA -3'

Posted On

2016-12-15