Mutagenetix > Incidental Mutation

Incidental Mutation 'R6413:Rgs8'

514796

Institutional Source

Beutler Lab

Gene Symbol

Rgs8

Ensembl Gene

ENSMUSG00000042671

Gene Name

regulator of G-protein signaling 8

Synonyms

6530413N01Rik

MMRRC Submission

044555-MU

Accession Numbers

Essential gene?

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

Stock #

R6413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153528612-153573415 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153568619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 168 (D168V)

Ref Sequence

ENSEMBL: ENSMUSP00000107446 (fasta)

Gene Model

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

AlphaFold

Q8BXT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041776
AA Change: D170V

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

SMART Domains

Protein: ENSMUSP00000045715
Gene: ENSMUSG00000042671
AA Change: D170V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111810
AA Change: D170V

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

SMART Domains

Protein: ENSMUSP00000107441
Gene: ENSMUSG00000042671
AA Change: D170V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111812
AA Change: D170V

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

SMART Domains

Protein: ENSMUSP00000107443
Gene: ENSMUSG00000042671
AA Change: D170V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111814
AA Change: D168V

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

SMART Domains

Protein: ENSMUSP00000107445
Gene: ENSMUSG00000042671
AA Change: D168V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111815
AA Change: D168V

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

SMART Domains

Protein: ENSMUSP00000107446
Gene: ENSMUSG00000042671
AA Change: D168V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124500

SMART Domains

Protein: ENSMUSP00000122518
Gene: ENSMUSG00000042671

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147482

SMART Domains

Protein: ENSMUSP00000118365
Gene: ENSMUSG00000042671

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147700

SMART Domains

Protein: ENSMUSP00000123565
Gene: ENSMUSG00000042671

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152114

SMART Domains

Protein: ENSMUSP00000121910
Gene: ENSMUSG00000042671

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187154

Meta Mutation Damage Score

0.7222

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (37/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,647 (GRCm39)		probably benign	Het
Agtpbp1	A	G	13: 59,647,834 (GRCm39)	V662A	possibly damaging	Het
Ambra1	T	G	2: 91,599,429 (GRCm39)	V183G	possibly damaging	Het
Amdhd2	A	G	17: 24,377,290 (GRCm39)	S208P	probably damaging	Het
Ankdd1a	C	T	9: 65,417,654 (GRCm39)	V133I	probably benign	Het
Ankrd35	A	G	3: 96,592,129 (GRCm39)	K805R	probably damaging	Het
Arhgap28	T	C	17: 68,182,583 (GRCm39)	Q270R	probably benign	Het
Cabp2	G	A	19: 4,135,698 (GRCm39)		probably null	Het
Ccnt1	A	G	15: 98,441,850 (GRCm39)	S473P	probably benign	Het
Cenpt	G	A	8: 106,572,973 (GRCm39)	P373S	possibly damaging	Het
Cyp3a44	T	A	5: 145,731,254 (GRCm39)	D182V	probably damaging	Het
Ddx54	A	G	5: 120,765,127 (GRCm39)	T799A	probably benign	Het
Dtna	T	A	18: 23,755,071 (GRCm39)	D464E	probably damaging	Het
E030025P04Rik	T	C	11: 109,030,425 (GRCm39)	Y154C	unknown	Het
Ephb2	C	A	4: 136,498,433 (GRCm39)	E215D	probably benign	Het
Eya4	T	C	10: 22,992,724 (GRCm39)	D445G	probably damaging	Het
Flg2	A	T	3: 93,127,683 (GRCm39)	L2198F	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,607,181 (GRCm39)	F496L	probably benign	Het
Numa1	A	T	7: 101,639,778 (GRCm39)		probably null	Het
Papola	T	C	12: 105,772,763 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,607,440 (GRCm39)	E1255G	probably damaging	Het
Rlf	A	G	4: 121,004,522 (GRCm39)	V1486A	probably damaging	Het
Rpa2	G	T	4: 132,501,156 (GRCm39)	A118S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina1f	T	A	12: 103,659,953 (GRCm39)	I110F	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Sh2b3	A	G	5: 121,966,986 (GRCm39)	Y43H	probably damaging	Het
Shank2	A	G	7: 143,963,955 (GRCm39)	E514G	probably damaging	Het
Slc44a5	T	C	3: 153,963,387 (GRCm39)	F388S	probably benign	Het
Spmip6	A	T	4: 41,505,135 (GRCm39)	V196D	possibly damaging	Het
Tmem176b	T	C	6: 48,815,266 (GRCm39)	N9S	possibly damaging	Het
Trip11	T	A	12: 101,851,790 (GRCm39)	Q758L	probably benign	Het
Trrap	T	A	5: 144,720,856 (GRCm39)	I231N	possibly damaging	Het
Ttn	A	T	2: 76,730,397 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,870,973 (GRCm39)	N770S	probably damaging	Het
Vmn2r73	A	T	7: 85,519,544 (GRCm39)	Y471*	probably null	Het
Vmn2r8	T	G	5: 108,949,589 (GRCm39)	E419D	probably benign	Het
Wdfy4	C	A	14: 32,689,604 (GRCm39)	L2818F	probably damaging	Het
Zfhx4	A	T	3: 5,308,205 (GRCm39)	Y477F	probably 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
R3618:Rgs8	UTSW	1	153,566,742 (GRCm39)	missense	probably null	0.35
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
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'- AAGAGTGAGATGCTGCCGTTG -3'
(R):5'- TGGAAAAGCCCTTCATTCCC -3'

Sequencing Primer
(F):5'- TGCTGCCCAATAGGTGC -3'
(R):5'- GGAAAAGCCCTTCATTCCCTTGTC -3'

Posted On

2018-05-04