Mutagenetix > Incidental Mutation

Incidental Mutation 'R3618:Rgs8'

268496

Institutional Source

Beutler Lab

Gene Symbol

Rgs8

Ensembl Gene

ENSMUSG00000042671

Gene Name

regulator of G-protein signaling 8

Synonyms

6530413N01Rik

MMRRC Submission

040675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R3618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153528612-153573415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153566742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 98 (T98A)

Ref Sequence

ENSEMBL: ENSMUSP00000122518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041776] [ENSMUST00000111810] [ENSMUST00000111812] [ENSMUST00000111814] [ENSMUST00000111815] [ENSMUST00000124500] [ENSMUST00000147482] [ENSMUST00000147700] [ENSMUST00000152114]

AlphaFold

Q8BXT1

Predicted Effect

probably benign
Transcript: ENSMUST00000041776
AA Change: T98A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111810
AA Change: T98A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111812
AA Change: T98A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
RGS	56	172	1.83e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111814
AA Change: T96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: T96A

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111815
AA Change: T96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: T96A

Domain	Start	End	E-Value	Type
RGS	54	170	1.83e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124500
AA Change: T98A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
Pfam:RGS	56	99	2.3e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000147482
AA Change: T96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671
AA Change: T96A

Domain	Start	End	E-Value	Type
Pfam:RGS	54	115	6.5e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000147700
AA Change: T98A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
Pfam:RGS	56	115	1.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152114
AA Change: T98A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671
AA Change: T98A

Domain	Start	End	E-Value	Type
RGS	56	137	1.52e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187154

Meta Mutation Damage Score

0.1425

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and Purkinje cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,168 (GRCm39)	E1119G	probably damaging	Het
Ahnak2	A	G	12: 112,749,842 (GRCm39)	I132T	probably damaging	Het
Arhgap29	G	A	3: 121,782,176 (GRCm39)	D63N	possibly damaging	Het
Bsn	T	A	9: 107,994,760 (GRCm39)		probably null	Het
Cfap161	A	C	7: 83,429,390 (GRCm39)	Y209*	probably null	Het
Drp2	A	C	X: 133,340,717 (GRCm39)	D458A	probably benign	Het
Efcab6	T	C	15: 83,834,270 (GRCm39)	H446R	probably benign	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
F13a1	G	A	13: 37,127,967 (GRCm39)	T337I	probably damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Hcfc1	A	T	X: 72,993,694 (GRCm39)	V1157D	probably benign	Het
Inava	A	C	1: 136,142,110 (GRCm39)	V663G	probably benign	Het
Ino80	T	C	2: 119,277,353 (GRCm39)	D374G	probably null	Het
Kif1a	T	C	1: 93,004,765 (GRCm39)	E143G	probably null	Het
Larp1	A	T	11: 57,948,172 (GRCm39)	E990D	probably benign	Het
Larp7	C	A	3: 127,330,614 (GRCm39)	E568*	probably null	Het
Ltn1	A	T	16: 87,217,787 (GRCm39)	S298R	probably damaging	Het
Mcm10	A	G	2: 5,001,913 (GRCm39)		probably null	Het
Mef2a	G	A	7: 66,918,075 (GRCm39)	S111L	probably benign	Het
Mroh1	A	G	15: 76,336,546 (GRCm39)	T1590A	possibly damaging	Het
Ncoa6	A	T	2: 155,249,709 (GRCm39)	H1198Q	possibly damaging	Het
Ogg1	A	G	6: 113,305,334 (GRCm39)	E49G	probably damaging	Het
Palm3	T	A	8: 84,755,973 (GRCm39)	V495E	probably benign	Het
Pam	A	G	1: 97,762,157 (GRCm39)	F809L	probably damaging	Het
Parp3	T	C	9: 106,352,262 (GRCm39)	E88G	possibly damaging	Het
Ptprs	A	G	17: 56,735,965 (GRCm39)	I156T	probably benign	Het
Pus7l	T	A	15: 94,425,788 (GRCm39)	I538F	probably damaging	Het
Ryr2	C	T	13: 11,787,466 (GRCm39)		probably null	Het
Slc8a2	A	G	7: 15,886,824 (GRCm39)	N656D	possibly damaging	Het
Stard9	C	T	2: 120,529,500 (GRCm39)	T1919I	possibly damaging	Het
Tbcel	T	C	9: 42,372,591 (GRCm39)		probably benign	Het
Trpv3	A	T	11: 73,186,281 (GRCm39)	I691F	probably damaging	Het
Uba2	A	G	7: 33,853,907 (GRCm39)		probably null	Het
Usp53	A	C	3: 122,728,061 (GRCm39)	S840R	probably benign	Het
Vmn2r100	A	T	17: 19,743,692 (GRCm39)	I452F	probably benign	Het
Zbtb48	A	T	4: 152,110,484 (GRCm39)		probably null	Het
Zfp385b	G	A	2: 77,246,233 (GRCm39)	P177S	probably benign	Het
Zfp42	T	C	8: 43,748,938 (GRCm39)	R188G	possibly damaging	Het

Other mutations in Rgs8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02100:Rgs8	APN	1	153,568,469 (GRCm39)	critical splice acceptor site	probably null
IGL02163:Rgs8	APN	1	153,547,511 (GRCm39)	missense	possibly damaging	0.71
IGL02826:Rgs8	APN	1	153,546,545 (GRCm39)	missense	probably damaging	1.00
IGL03345:Rgs8	APN	1	153,568,556 (GRCm39)	missense	probably benign	0.34
R0561:Rgs8	UTSW	1	153,541,668 (GRCm39)	splice site	probably null
R0801:Rgs8	UTSW	1	153,546,557 (GRCm39)	missense	probably damaging	1.00
R4058:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
R4059:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
R4877:Rgs8	UTSW	1	153,568,633 (GRCm39)	unclassified	probably benign
R5070:Rgs8	UTSW	1	153,541,650 (GRCm39)	missense	probably damaging	0.97
R5841:Rgs8	UTSW	1	153,568,574 (GRCm39)	missense	probably damaging	1.00
R6028:Rgs8	UTSW	1	153,566,734 (GRCm39)	missense	probably damaging	1.00
R6413:Rgs8	UTSW	1	153,568,619 (GRCm39)	missense	probably damaging	1.00
R7682:Rgs8	UTSW	1	153,566,668 (GRCm39)	missense	probably damaging	1.00
R8746:Rgs8	UTSW	1	153,547,537 (GRCm39)	missense	probably damaging	1.00
R8951:Rgs8	UTSW	1	153,546,567 (GRCm39)	missense	probably damaging	0.98
X0028:Rgs8	UTSW	1	153,546,592 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGGCTTGACTAGTCAGGATG -3'
(R):5'- GCCTTTCTCATCAGGATCCAAC -3'

Sequencing Primer
(F):5'- CAGGATGCTGACAAATTGGTATTG -3'
(R):5'- CTCAACAGAGTTAGGAGGCCC -3'

Posted On

2015-02-19