Mutagenetix > Incidental Mutation

Incidental Mutation 'R7821:Grk4'

601856

Institutional Source

Beutler Lab

Gene Symbol

Grk4

Ensembl Gene

ENSMUSG00000052783

Gene Name

G protein-coupled receptor kinase 4

Synonyms

Gprk2l, A830025H08Rik

MMRRC Submission

045875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34817723-34912649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34867553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 173 (W173R)

Ref Sequence

ENSEMBL: ENSMUSP00000001112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001112]

AlphaFold

O70291

Predicted Effect

probably damaging
Transcript: ENSMUST00000001112
AA Change: W173R

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

SMART Domains

Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
AA Change: W173R

Domain	Start	End	E-Value	Type
RGS	51	171	1.61e-31	SMART
S_TKc	186	448	7.78e-85	SMART
S_TK_X	449	528	2.98e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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 its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable, fertile and overtly normal. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(2)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,120,929 (GRCm39)	T112S	probably damaging	Het
Abca12	G	T	1: 71,298,950 (GRCm39)	S2320R	probably benign	Het
Abca7	TGGTGCGTGAG	TG	10: 79,838,424 (GRCm39)		probably benign	Het
Adh7	T	A	3: 137,932,136 (GRCm39)	I250N	probably damaging	Het
Albfm1	T	C	5: 90,740,747 (GRCm39)	V560A	possibly damaging	Het
Aoc1	T	A	6: 48,882,745 (GRCm39)	I229N	probably damaging	Het
C2cd6	A	T	1: 59,106,951 (GRCm39)	Y291*	probably null	Het
Cacnb4	T	C	2: 52,324,520 (GRCm39)	D514G	possibly damaging	Het
Ccdc202	A	G	14: 96,119,486 (GRCm39)	Q81R	possibly damaging	Het
Clec2g	A	G	6: 128,925,740 (GRCm39)	T50A	probably benign	Het
Col6a5	T	C	9: 105,741,458 (GRCm39)	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,752,887 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,087,879 (GRCm39)	S14N	unknown	Het
Dchs1	G	A	7: 105,414,352 (GRCm39)	T821I	probably benign	Het
Dhcr24	T	C	4: 106,428,633 (GRCm39)	S138P	possibly damaging	Het
Dhrs9	G	A	2: 69,224,782 (GRCm39)	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,678 (GRCm39)	D3682E	possibly damaging	Het
Dst	T	C	1: 34,314,443 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,403,261 (GRCm39)	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113 (GRCm38)	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578 (GRCm39)	W129R	probably damaging	Het
Foxred2	G	A	15: 77,827,550 (GRCm39)	P603L	probably benign	Het
Fshr	A	G	17: 89,293,641 (GRCm39)	S346P	probably damaging	Het
Galnt2	T	A	8: 125,070,134 (GRCm39)	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,274,559 (GRCm39)	S312P	probably benign	Het
Gpr150	C	A	13: 76,204,511 (GRCm39)	A145S	probably benign	Het
Hoxb9	C	G	11: 96,162,537 (GRCm39)	P57R	probably damaging	Het
Hsf5	A	G	11: 87,528,954 (GRCm39)	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,275,796 (GRCm39)	F114S	possibly damaging	Het
Klra9	T	A	6: 130,162,563 (GRCm39)	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,960,210 (GRCm39)	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,459,320 (GRCm39)	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,346,221 (GRCm39)	M89T	probably benign	Het
Nkx2-4	T	C	2: 146,927,208 (GRCm39)	I20V	probably benign	Het
Nup214	T	C	2: 31,916,917 (GRCm39)	S1191P	possibly damaging	Het
Or2n1d	A	G	17: 38,646,855 (GRCm39)	D269G	probably benign	Het
Pfkp	T	A	13: 6,647,908 (GRCm39)	N556I	probably damaging	Het
Pidd1	A	T	7: 141,022,193 (GRCm39)	S199T	probably benign	Het
Pik3r2	T	A	8: 71,222,408 (GRCm39)	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,785,524 (GRCm39)	I294F	probably damaging	Het
Prmt6	C	A	3: 110,158,303 (GRCm39)		probably benign	Het
Prpf8	A	G	11: 75,385,300 (GRCm39)	I812V	probably benign	Het
Rasa2	T	C	9: 96,462,537 (GRCm39)		probably null	Het
Rsad1	A	C	11: 94,435,288 (GRCm39)	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Shroom3	T	A	5: 93,088,705 (GRCm39)	V485E	probably damaging	Het
Siae	T	A	9: 37,556,196 (GRCm39)	Y451N	probably damaging	Het
Slc7a11	A	T	3: 50,335,476 (GRCm39)	I354N	probably damaging	Het
Spryd7	A	T	14: 61,783,129 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,129,499 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,179,601 (GRCm39)	D214V	probably damaging	Het
Tmtc4	T	C	14: 123,209,289 (GRCm39)	I119V	probably benign	Het
Trim5	G	A	7: 103,927,633 (GRCm39)	T169I	probably benign	Het
Ttc33	T	C	15: 5,241,506 (GRCm39)	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,431 (GRCm39)	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,907,975 (GRCm39)	N694S	probably benign	Het
Zfp174	T	A	16: 3,666,041 (GRCm39)	I102N	probably damaging	Het
Zfp354a	T	C	11: 50,960,539 (GRCm39)	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,302,098 (GRCm39)	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,723,000 (GRCm39)		probably benign	Het

Other mutations in Grk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Grk4	APN	5	34,873,634 (GRCm39)	missense	probably damaging	0.99
IGL00574:Grk4	APN	5	34,852,162 (GRCm39)	missense	probably benign	0.00
IGL02127:Grk4	APN	5	34,867,530 (GRCm39)	missense	probably benign	0.00
IGL02191:Grk4	APN	5	34,912,533 (GRCm39)	missense	probably benign	0.27
IGL02227:Grk4	APN	5	34,852,126 (GRCm39)	missense	probably benign	0.06
IGL03152:Grk4	APN	5	34,902,701 (GRCm39)	missense	probably damaging	1.00
IGL03214:Grk4	APN	5	34,909,553 (GRCm39)	missense	probably benign
F5426:Grk4	UTSW	5	34,902,503 (GRCm39)	splice site	probably benign
R0110:Grk4	UTSW	5	34,873,557 (GRCm39)	missense	probably damaging	0.97
R0469:Grk4	UTSW	5	34,873,557 (GRCm39)	missense	probably damaging	0.97
R0671:Grk4	UTSW	5	34,905,611 (GRCm39)	missense	probably benign	0.04
R1466:Grk4	UTSW	5	34,852,094 (GRCm39)	missense	probably benign	0.02
R1466:Grk4	UTSW	5	34,852,094 (GRCm39)	missense	probably benign	0.02
R1584:Grk4	UTSW	5	34,852,094 (GRCm39)	missense	probably benign	0.02
R1605:Grk4	UTSW	5	34,831,901 (GRCm39)	missense	probably damaging	0.98
R1607:Grk4	UTSW	5	34,888,882 (GRCm39)	missense	probably benign	0.01
R1903:Grk4	UTSW	5	34,833,531 (GRCm39)	splice site	probably null
R2352:Grk4	UTSW	5	34,826,520 (GRCm39)	missense	probably benign	0.04
R4561:Grk4	UTSW	5	34,852,157 (GRCm39)	missense	probably benign	0.00
R4580:Grk4	UTSW	5	34,818,325 (GRCm39)	missense	probably damaging	1.00
R4807:Grk4	UTSW	5	34,909,552 (GRCm39)	missense	probably benign
R5412:Grk4	UTSW	5	34,902,612 (GRCm39)	missense	probably benign	0.00
R5905:Grk4	UTSW	5	34,869,074 (GRCm39)	missense	probably damaging	1.00
R6360:Grk4	UTSW	5	34,831,881 (GRCm39)	missense	probably damaging	1.00
R6604:Grk4	UTSW	5	34,877,208 (GRCm39)	missense	probably damaging	1.00
R6865:Grk4	UTSW	5	34,888,894 (GRCm39)	missense	probably damaging	1.00
R7265:Grk4	UTSW	5	34,873,608 (GRCm39)	missense	probably damaging	0.96
R7394:Grk4	UTSW	5	34,908,962 (GRCm39)	missense	probably benign
R7718:Grk4	UTSW	5	34,852,160 (GRCm39)	missense	probably benign
R8074:Grk4	UTSW	5	34,833,482 (GRCm39)	missense	probably benign	0.30
R8218:Grk4	UTSW	5	34,826,540 (GRCm39)	missense	probably benign	0.01
R8499:Grk4	UTSW	5	34,902,690 (GRCm39)	missense	possibly damaging	0.90
R9026:Grk4	UTSW	5	34,877,084 (GRCm39)	missense	probably damaging	1.00
R9068:Grk4	UTSW	5	34,905,653 (GRCm39)	missense
X0064:Grk4	UTSW	5	34,877,228 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CTGAATTGGGTCAACTTTCTCAC -3'
(R):5'- TGTACCATGAGCATGAACTACC -3'

Sequencing Primer
(F):5'- ACTGACTGTTAACTGTGACACCG -3'
(R):5'- AATGGAGTTTACTGAATCAGAAGC -3'

Posted On

2019-12-03