Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Rgs3'

591491

Institutional Source

Beutler Lab

Gene Symbol

Rgs3

Ensembl Gene

ENSMUSG00000059810

Gene Name

regulator of G-protein signaling 3

Synonyms

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

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62478079-62621256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62619349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 478 (D478G)

Ref Sequence

ENSEMBL: ENSMUSP00000103043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084521] [ENSMUST00000107420]

AlphaFold

Q9DC04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084521
AA Change: D876G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: D876G

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

possibly damaging
Transcript: ENSMUST00000107420
AA Change: D478G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: D478G

Domain	Start	End	E-Value	Type
internal_repeat_1	9	49	1.41e-9	PROSPERO
internal_repeat_1	58	103	1.41e-9	PROSPERO
low complexity region	247	276	N/A	INTRINSIC
RGS	443	559	3.66e-53	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123310
Gene: ENSMUSG00000059810
AA Change: D35G

Domain	Start	End	E-Value	Type
RGS	1	117	8.1e-46	SMART

Meta Mutation Damage Score

0.7225

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abca9	T	A	11: 110,006,278 (GRCm39)	T1276S	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Mep1a	C	T	17: 43,789,868 (GRCm39)	G494S	probably benign	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or4f52	C	T	2: 111,061,960 (GRCm39)	M59I	probably damaging	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	probably damaging	Het

Other mutations in Rgs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Rgs3	APN	4	62,619,417 (GRCm39)	missense	possibly damaging	0.87
IGL00918:Rgs3	APN	4	62,619,304 (GRCm39)	missense	probably damaging	1.00
IGL01594:Rgs3	APN	4	62,537,981 (GRCm39)	missense	probably damaging	0.99
IGL01761:Rgs3	APN	4	62,570,946 (GRCm39)	splice site	probably benign
IGL02995:Rgs3	APN	4	62,544,084 (GRCm39)	missense	possibly damaging	0.95
IGL03365:Rgs3	APN	4	62,607,912 (GRCm39)	missense	probably benign
R0098:Rgs3	UTSW	4	62,544,143 (GRCm39)	missense	probably damaging	1.00
R0098:Rgs3	UTSW	4	62,544,143 (GRCm39)	missense	probably damaging	1.00
R0158:Rgs3	UTSW	4	62,542,121 (GRCm39)	missense	probably damaging	1.00
R0609:Rgs3	UTSW	4	62,544,173 (GRCm39)	missense	probably damaging	1.00
R0633:Rgs3	UTSW	4	62,544,143 (GRCm39)	missense	probably damaging	1.00
R0637:Rgs3	UTSW	4	62,564,910 (GRCm39)	splice site	probably benign
R0893:Rgs3	UTSW	4	62,523,798 (GRCm39)	splice site	probably null
R1612:Rgs3	UTSW	4	62,544,172 (GRCm39)	missense	probably damaging	0.99
R1929:Rgs3	UTSW	4	62,620,384 (GRCm39)	missense	probably damaging	1.00
R2202:Rgs3	UTSW	4	62,608,741 (GRCm39)	missense	probably damaging	1.00
R2239:Rgs3	UTSW	4	62,544,124 (GRCm39)	missense	probably benign	0.30
R2380:Rgs3	UTSW	4	62,544,124 (GRCm39)	missense	probably benign	0.30
R2974:Rgs3	UTSW	4	62,558,957 (GRCm39)	missense	probably damaging	1.00
R4871:Rgs3	UTSW	4	62,549,532 (GRCm39)	missense	probably benign	0.01
R5229:Rgs3	UTSW	4	62,620,424 (GRCm39)	missense	probably damaging	1.00
R5372:Rgs3	UTSW	4	62,570,934 (GRCm39)	intron	probably benign
R5597:Rgs3	UTSW	4	62,542,082 (GRCm39)	missense	probably damaging	1.00
R6006:Rgs3	UTSW	4	62,542,143 (GRCm39)	missense	probably damaging	1.00
R6056:Rgs3	UTSW	4	62,544,143 (GRCm39)	missense	probably damaging	0.96
R6732:Rgs3	UTSW	4	62,521,180 (GRCm39)	missense	probably benign	0.00
R6962:Rgs3	UTSW	4	62,618,952 (GRCm39)	intron	probably benign
R7141:Rgs3	UTSW	4	62,608,724 (GRCm39)	missense	probably damaging	1.00
R7156:Rgs3	UTSW	4	62,535,363 (GRCm39)	missense	probably damaging	0.99
R7193:Rgs3	UTSW	4	62,533,573 (GRCm39)	missense	probably damaging	0.99
R7459:Rgs3	UTSW	4	62,543,391 (GRCm39)	missense	probably benign	0.01
R7697:Rgs3	UTSW	4	62,575,379 (GRCm39)	missense	probably benign	0.00
R8025:Rgs3	UTSW	4	62,608,831 (GRCm39)	missense	probably damaging	0.97
R8059:Rgs3	UTSW	4	62,521,214 (GRCm39)	splice site	probably benign
R8242:Rgs3	UTSW	4	62,538,022 (GRCm39)	missense	probably benign
R8413:Rgs3	UTSW	4	62,544,254 (GRCm39)	missense	possibly damaging	0.54
R8489:Rgs3	UTSW	4	62,544,733 (GRCm39)	missense	probably damaging	1.00
R8501:Rgs3	UTSW	4	62,521,193 (GRCm39)	missense	possibly damaging	0.85
R8880:Rgs3	UTSW	4	62,543,373 (GRCm39)	missense	probably damaging	1.00
R9065:Rgs3	UTSW	4	62,620,465 (GRCm39)	missense	probably benign	0.05
R9094:Rgs3	UTSW	4	62,500,240 (GRCm39)	missense	probably damaging	1.00
R9318:Rgs3	UTSW	4	62,559,019 (GRCm39)	missense	probably benign	0.05
R9483:Rgs3	UTSW	4	62,575,354 (GRCm39)	nonsense	probably null
R9498:Rgs3	UTSW	4	62,575,412 (GRCm39)	missense	probably damaging	1.00
R9522:Rgs3	UTSW	4	62,523,729 (GRCm39)	missense	probably benign	0.12
Z1177:Rgs3	UTSW	4	62,549,451 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GTGCTAAGTTCCCAACACATTCC -3'
(R):5'- AACATTCTGTTCACTGGGCCTC -3'

Sequencing Primer
(F):5'- ATTCCCTCAAGGCTCTTGGAGG -3'
(R):5'- TCCTGGCAGACTAGATACTCTAAGAG -3'

Posted On

2019-11-12