Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Grk6'

551073

Institutional Source

Beutler Lab

Gene Symbol

Grk6

Ensembl Gene

ENSMUSG00000074886

Gene Name

G protein-coupled receptor kinase 6

Synonyms

Gprk6

MMRRC Submission

045196-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55592885-55608740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55602219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 383 (S383P)

Ref Sequence

ENSEMBL: ENSMUSP00000001115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]

AlphaFold

O70293

Predicted Effect

probably benign
Transcript: ENSMUST00000001115
AA Change: S383P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: S383P

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
RGS	52	171	1.81e-34	SMART
S_TKc	186	448	8.4e-90	SMART
S_TK_X	449	528	2.8e-8	SMART
low complexity region	572	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099482
AA Change: S383P

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: S383P

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
RGS	52	171	1.81e-34	SMART
S_TKc	186	448	8.4e-90	SMART
S_TK_X	449	528	2.8e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224118
AA Change: S383P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224653
AA Change: S351P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224995
AA Change: S378P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225925
AA Change: S349P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Whereas, homozygous mutant mice are viable and show no gross anatomical or behavioral abnormalites under normal physiological conditions, they exhibit locomotor supersensitivity to psychostimulants including cocaine and amphetamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,627,891 (GRCm39)	E232G	probably damaging	Het
Atf7	A	G	15: 102,442,670 (GRCm39)	S480P	probably benign	Het
Cdk14	A	G	5: 5,245,325 (GRCm39)	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,267,393 (GRCm39)	F358L	probably benign	Het
Cplane1	T	C	15: 8,223,928 (GRCm39)	L897P	possibly damaging	Het
Cytip	A	G	2: 58,049,986 (GRCm39)	S28P	probably benign	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,171,159 (GRCm39)	C480S	probably damaging	Het
Drc7	A	G	8: 95,785,711 (GRCm39)	D189G	probably damaging	Het
Engase	G	A	11: 118,372,121 (GRCm39)	V138M	probably damaging	Het
Esyt3	C	A	9: 99,220,840 (GRCm39)	R121L	probably damaging	Het
Frem1	T	G	4: 82,858,918 (GRCm39)	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,258,724 (GRCm39)	I249N	probably damaging	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hipk2	A	G	6: 38,795,579 (GRCm39)	L230P	probably damaging	Het
Hivep1	A	T	13: 42,310,814 (GRCm39)	Q1018L	probably benign	Het
Itgad	T	C	7: 127,797,550 (GRCm39)	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,702,335 (GRCm39)	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,618,031 (GRCm39)	A486D	possibly damaging	Het
Krt1c	T	C	15: 101,723,522 (GRCm39)	T318A	probably benign	Het
Ndrg1	A	G	15: 66,818,377 (GRCm39)	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nos1	T	A	5: 118,085,496 (GRCm39)	C1275S	probably damaging	Het
Or14a256	T	C	7: 86,264,900 (GRCm39)	S318G	probably null	Het
Or4a69	A	G	2: 89,313,458 (GRCm39)	V7A	possibly damaging	Het
Or5an9	T	C	19: 12,187,242 (GRCm39)	I104T	possibly damaging	Het
Or5d39	T	C	2: 87,979,716 (GRCm39)	T216A	possibly damaging	Het
Or5j3	T	A	2: 86,128,564 (GRCm39)	S135T	probably benign	Het
Or8b12b	A	T	9: 37,684,437 (GRCm39)	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,623,542 (GRCm39)	M67V	possibly damaging	Het
Polq	C	A	16: 36,909,715 (GRCm39)	Y2366*	probably null	Het
Prg3	T	C	2: 84,819,097 (GRCm39)	S8P	probably benign	Het
Prl7c1	A	T	13: 27,962,952 (GRCm39)	L17*	probably null	Het
Prl8a8	A	T	13: 27,695,479 (GRCm39)	S51R	probably damaging	Het
Pttg1	G	C	11: 43,311,976 (GRCm39)	P160A	probably benign	Het
Rbfox1	C	A	16: 7,170,867 (GRCm39)	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,492,988 (GRCm39)	M126L	probably benign	Het
Secisbp2	A	T	13: 51,810,943 (GRCm39)	K202*	probably null	Het
Sema6c	A	G	3: 95,076,156 (GRCm39)	H236R	possibly damaging	Het
Septin12	A	G	16: 4,809,857 (GRCm39)	L181P	probably damaging	Het
Shc3	A	T	13: 51,585,241 (GRCm39)	V458D	possibly damaging	Het
Tecta	A	G	9: 42,278,239 (GRCm39)	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,429 (GRCm39)	N998K		Het
Tmem131l	A	T	3: 83,826,766 (GRCm39)	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,647,887 (GRCm39)	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,615,540 (GRCm39)	E348G	probably benign	Het
Unc5c	T	C	3: 141,439,665 (GRCm39)	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,219,045 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,577,959 (GRCm39)	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,262,376 (GRCm39)	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,651,253 (GRCm39)	D189G		Het
Vwc2l	C	A	1: 70,768,252 (GRCm39)	C105*	probably null	Het
Wdr72	T	A	9: 74,055,597 (GRCm39)	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,467,549 (GRCm39)	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,672,269 (GRCm39)	H273Y	probably benign	Het
Zwilch	A	G	9: 64,068,658 (GRCm39)	S203P	probably damaging	Het

Other mutations in Grk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01733:Grk6	APN	13	55,599,204 (GRCm39)	missense	possibly damaging	0.92
IGL02054:Grk6	APN	13	55,602,210 (GRCm39)	missense	probably benign	0.03
IGL02156:Grk6	APN	13	55,597,174 (GRCm39)	missense	possibly damaging	0.86
IGL02442:Grk6	APN	13	55,606,750 (GRCm39)	splice site	probably benign
IGL02750:Grk6	APN	13	55,599,356 (GRCm39)	missense	probably damaging	1.00
IGL03340:Grk6	APN	13	55,601,003 (GRCm39)	missense	probably damaging	1.00
Damper	UTSW	13	55,606,733 (GRCm39)	missense	probably damaging	1.00
Piano	UTSW	13	55,602,340 (GRCm39)	critical splice donor site	probably null
R0080:Grk6	UTSW	13	55,606,723 (GRCm39)	missense	probably benign	0.00
R1077:Grk6	UTSW	13	55,602,340 (GRCm39)	critical splice donor site	probably null
R1530:Grk6	UTSW	13	55,606,612 (GRCm39)	missense	probably damaging	0.99
R1531:Grk6	UTSW	13	55,599,967 (GRCm39)	missense	probably damaging	1.00
R1733:Grk6	UTSW	13	55,600,979 (GRCm39)	splice site	probably benign
R1851:Grk6	UTSW	13	55,599,591 (GRCm39)	nonsense	probably null
R1874:Grk6	UTSW	13	55,598,086 (GRCm39)	missense	probably damaging	1.00
R2142:Grk6	UTSW	13	55,602,177 (GRCm39)	missense	probably damaging	1.00
R2875:Grk6	UTSW	13	55,600,117 (GRCm39)	missense	probably damaging	1.00
R5187:Grk6	UTSW	13	55,599,519 (GRCm39)	missense	probably damaging	1.00
R7010:Grk6	UTSW	13	55,598,113 (GRCm39)	missense	possibly damaging	0.74
R7111:Grk6	UTSW	13	55,606,733 (GRCm39)	missense	probably damaging	1.00
R7769:Grk6	UTSW	13	55,598,820 (GRCm39)	missense	probably benign	0.01
R7982:Grk6	UTSW	13	55,599,519 (GRCm39)	missense	probably damaging	1.00
R8401:Grk6	UTSW	13	55,599,981 (GRCm39)	missense	possibly damaging	0.95
R8468:Grk6	UTSW	13	55,599,198 (GRCm39)	missense	probably damaging	1.00
R9022:Grk6	UTSW	13	55,606,877 (GRCm39)	missense	possibly damaging	0.94
R9731:Grk6	UTSW	13	55,607,640 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTCATACTGGCTCAGTCCACAG -3'
(R):5'- TACCTGAGTGGGTGAGGTAC -3'

Sequencing Primer
(F):5'- TACCTGCCTATCCAGAGGATG -3'
(R):5'- TGAGGTACCCCAGCTGC -3'

Posted On

2019-05-15