Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Rgs2'

487316

Institutional Source

Beutler Lab

Gene Symbol

Rgs2

Ensembl Gene

ENSMUSG00000026360

Gene Name

regulator of G-protein signaling 2

Synonyms

GOS8

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143875076-143879887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143879763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 32 (K32E)

Ref Sequence

ENSEMBL: ENSMUSP00000139964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027606] [ENSMUST00000127206] [ENSMUST00000153527]

AlphaFold

O08849

Predicted Effect

probably damaging
Transcript: ENSMUST00000027606
AA Change: K32E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127206
AA Change: K32E

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115558
Gene: ENSMUSG00000026360
AA Change: K32E

Domain	Start	End	E-Value	Type
RGS	83	199	4.5e-54	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134817

Predicted Effect

probably benign
Transcript: ENSMUST00000153527

SMART Domains

Protein: ENSMUSP00000140548
Gene: ENSMUSG00000026360

Domain	Start	End	E-Value	Type
RGS	51	130	1.6e-11	SMART

Meta Mutation Damage Score

0.4905

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]
PHENOTYPE: Heterozygous and homozygous mice for one allele display equivalent levels of blood pressure elevation, renovascular defects, persistent constriction of the resistance vasculature, and prolonged response of the vasculature to vasoconstrictors in vivo. Mice homozygous for another allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	Het

Other mutations in Rgs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Rgs2	APN	1	143,877,967 (GRCm39)	missense	probably damaging	1.00
R0189:Rgs2	UTSW	1	143,878,022 (GRCm39)	critical splice acceptor site	probably null
R0866:Rgs2	UTSW	1	143,877,988 (GRCm39)	missense	probably damaging	1.00
R2041:Rgs2	UTSW	1	143,877,960 (GRCm39)	missense	probably damaging	1.00
R4005:Rgs2	UTSW	1	143,877,606 (GRCm39)	missense	probably benign	0.01
R4654:Rgs2	UTSW	1	143,878,650 (GRCm39)	intron	probably benign
R5144:Rgs2	UTSW	1	143,877,437 (GRCm39)	missense	probably benign	0.00
R7180:Rgs2	UTSW	1	143,877,886 (GRCm39)	missense	probably benign	0.04
R8831:Rgs2	UTSW	1	143,877,497 (GRCm39)	missense	probably damaging	1.00
R9147:Rgs2	UTSW	1	143,877,925 (GRCm39)	missense	probably damaging	1.00
R9148:Rgs2	UTSW	1	143,877,925 (GRCm39)	missense	probably damaging	1.00
R9422:Rgs2	UTSW	1	143,878,783 (GRCm39)	missense	probably damaging	1.00
R9597:Rgs2	UTSW	1	143,877,826 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTAAACTCTCGGAGCTCAC -3'
(R):5'- AGTGCCTACCAAATCTCTCTGTG -3'

Sequencing Primer
(F):5'- TACCACCATATCTAGCAAGCTAAC -3'
(R):5'- TCTGCAGCGAGCCAATC -3'

Posted On

2017-10-10