Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Rgs3'

17932

Institutional Source

Beutler Lab

Gene Symbol

Rgs3

Ensembl Gene

ENSMUSG00000059810

Gene Name

regulator of G-protein signaling 3

Synonyms

C2pa, PDZ-RGS3, RGS3S, C2PA-RGS3, 4930506N09Rik

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62559847-62704001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 62625906 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 305 (R305P)

Ref Sequence

ENSEMBL: ENSMUSP00000095639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065870] [ENSMUST00000084521] [ENSMUST00000098031] [ENSMUST00000107424]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065870
AA Change: R313P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
AA Change: R313P

Domain	Start	End	E-Value	Type
C2	47	150	7.98e-15	SMART
PDZ	203	272	8.09e-10	SMART
low complexity region	465	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084521
AA Change: R136P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: R136P

Domain	Start	End	E-Value	Type
PDZ	26	95	8.09e-10	SMART
low complexity region	288	298	N/A	INTRINSIC
internal_repeat_1	407	447	2.05e-9	PROSPERO
internal_repeat_1	456	501	2.05e-9	PROSPERO
low complexity region	645	674	N/A	INTRINSIC
RGS	841	957	3.66e-53	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098031
AA Change: R305P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
AA Change: R305P

Domain	Start	End	E-Value	Type
C2	39	142	7.98e-15	SMART
PDZ	195	264	8.09e-10	SMART
low complexity region	457	467	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107424
AA Change: R136P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: R136P

Domain	Start	End	E-Value	Type
PDZ	26	95	8.09e-10	SMART
low complexity region	288	298	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154071

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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 regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Rgs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Rgs3	APN	4	62701180	missense	possibly damaging	0.87
IGL00918:Rgs3	APN	4	62701067	missense	probably damaging	1.00
IGL01594:Rgs3	APN	4	62619744	missense	probably damaging	0.99
IGL01761:Rgs3	APN	4	62652709	splice site	probably benign
IGL02995:Rgs3	APN	4	62625847	missense	possibly damaging	0.95
IGL03365:Rgs3	APN	4	62689675	missense	probably benign
R0098:Rgs3	UTSW	4	62625906	missense	probably damaging	1.00
R0158:Rgs3	UTSW	4	62623884	missense	probably damaging	1.00
R0609:Rgs3	UTSW	4	62625936	missense	probably damaging	1.00
R0633:Rgs3	UTSW	4	62625906	missense	probably damaging	1.00
R0637:Rgs3	UTSW	4	62646673	splice site	probably benign
R0893:Rgs3	UTSW	4	62605561	splice site	probably null
R1612:Rgs3	UTSW	4	62625935	missense	probably damaging	0.99
R1929:Rgs3	UTSW	4	62702147	missense	probably damaging	1.00
R2202:Rgs3	UTSW	4	62690504	missense	probably damaging	1.00
R2239:Rgs3	UTSW	4	62625887	missense	probably benign	0.30
R2380:Rgs3	UTSW	4	62625887	missense	probably benign	0.30
R2974:Rgs3	UTSW	4	62640720	missense	probably damaging	1.00
R4871:Rgs3	UTSW	4	62631295	missense	probably benign	0.01
R5229:Rgs3	UTSW	4	62702187	missense	probably damaging	1.00
R5372:Rgs3	UTSW	4	62652697	intron	probably benign
R5597:Rgs3	UTSW	4	62623845	missense	probably damaging	1.00
R6006:Rgs3	UTSW	4	62623906	missense	probably damaging	1.00
R6056:Rgs3	UTSW	4	62625906	missense	probably damaging	0.96
R6732:Rgs3	UTSW	4	62602943	missense	probably benign	0.00
R6962:Rgs3	UTSW	4	62700715	intron	probably benign
R7141:Rgs3	UTSW	4	62690487	missense	probably damaging	1.00
R7156:Rgs3	UTSW	4	62617126	missense	probably damaging	0.99
R7193:Rgs3	UTSW	4	62615336	missense	probably damaging	0.99
R7459:Rgs3	UTSW	4	62625154	missense	probably benign	0.01
R7660:Rgs3	UTSW	4	62701112	missense	possibly damaging	0.94
R7697:Rgs3	UTSW	4	62657142	missense	probably benign	0.00
R8025:Rgs3	UTSW	4	62690594	missense	probably damaging	0.97
R8242:Rgs3	UTSW	4	62619785	missense	probably benign
R8413:Rgs3	UTSW	4	62626017	missense	possibly damaging	0.54
R8501:Rgs3	UTSW	4	62602956	missense	possibly damaging	0.85
Z1177:Rgs3	UTSW	4	62631214	missense	possibly damaging	0.67

Posted On

2013-03-25