Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03365:Rgs3'

420050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs3

Ensembl Gene

ENSMUSG00000059810

Gene Name

regulator of G-protein signaling 3

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

62559847-62704001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62689675 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 59 (D59E)

Ref Sequence

ENSEMBL: ENSMUSP00000116041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084521] [ENSMUST00000107420] [ENSMUST00000124082] [ENSMUST00000126338]

Predicted Effect

probably benign
Transcript: ENSMUST00000084521
AA Change: D457E

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

SMART Domains

Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: D457E

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 benign
Transcript: ENSMUST00000107420
AA Change: D59E

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

SMART Domains

Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: D59E

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

probably benign
Transcript: ENSMUST00000124082
AA Change: D59E

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

SMART Domains

Protein: ENSMUSP00000115192
Gene: ENSMUSG00000059810
AA Change: D59E

Domain	Start	End	E-Value	Type
low complexity region	247	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126338
AA Change: D59E

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

SMART Domains

Protein: ENSMUSP00000116041
Gene: ENSMUSG00000059810
AA Change: D59E

Domain	Start	End	E-Value	Type
internal_repeat_1	9	49	1.09e-5	PROSPERO
internal_repeat_1	58	103	1.09e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144489

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	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
R0098:Rgs3	UTSW	4	62625906	missense	probably damaging	1.00
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
R8059:Rgs3	UTSW	4	62602977	splice site	probably benign
R8242:Rgs3	UTSW	4	62619785	missense	probably benign
R8413:Rgs3	UTSW	4	62626017	missense	possibly damaging	0.54
R8489:Rgs3	UTSW	4	62626496	missense	probably damaging	1.00
R8501:Rgs3	UTSW	4	62602956	missense	possibly damaging	0.85
Z1177:Rgs3	UTSW	4	62631214	missense	possibly damaging	0.67

Posted On

2016-08-02