Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02479:Rgs9'

295127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs9

Ensembl Gene

ENSMUSG00000020599

Gene Name

regulator of G-protein signaling 9

Synonyms

Rgs9-2, RGS9-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

109225355-109298129 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109225652 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 442 (S442G)

Ref Sequence

ENSEMBL: ENSMUSP00000099351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020920] [ENSMUST00000103062]

Predicted Effect

probably benign
Transcript: ENSMUST00000020920
AA Change: S668G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: S668G

Domain	Start	End	E-Value	Type
DEP	30	105	2.2e-16	SMART
G_gamma	216	280	5.01e-17	SMART
GGL	219	280	5.55e-23	SMART
RGS	299	414	4.47e-48	SMART
low complexity region	486	504	N/A	INTRINSIC
low complexity region	562	574	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103062
AA Change: S442G

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099351
Gene: ENSMUSG00000020599
AA Change: S442G

Domain	Start	End	E-Value	Type
G_gamma	1	54	2.27e-6	SMART
GGL	1	54	1.86e-15	SMART
RGS	73	188	4.47e-48	SMART
low complexity region	260	278	N/A	INTRINSIC
low complexity region	336	348	N/A	INTRINSIC

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 RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, relative to wild-type, homozygous null photoreceptors display abnormally retarded recovery of their light responses, and slowed rates of GTP hydrolysis by transducin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Arsj	T	C	3: 126,438,939	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,826,176	T31I	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Dync1i2	G	A	2: 71,235,979	V128I	probably damaging	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fcna	T	A	2: 25,625,260	Q237L	probably benign	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Prdm2	A	G	4: 143,134,929	L597P	probably damaging	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	Het

Other mutations in Rgs9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Rgs9	APN	11	109249049	splice site	probably benign
IGL01949:Rgs9	APN	11	109259834	critical splice donor site	probably null
IGL03170:Rgs9	APN	11	109259855	missense	probably benign	0.10
R1368:Rgs9	UTSW	11	109248151	missense	probably benign	0.00
R1499:Rgs9	UTSW	11	109268921	critical splice donor site	probably null
R1780:Rgs9	UTSW	11	109239499	nonsense	probably null
R2422:Rgs9	UTSW	11	109225777	critical splice acceptor site	probably null
R2509:Rgs9	UTSW	11	109268972	missense	probably benign	0.00
R2510:Rgs9	UTSW	11	109268972	missense	probably benign	0.00
R2511:Rgs9	UTSW	11	109268972	missense	probably benign	0.00
R3932:Rgs9	UTSW	11	109275813	splice site	probably benign
R4179:Rgs9	UTSW	11	109281448	critical splice donor site	probably null
R4801:Rgs9	UTSW	11	109240868	missense	probably damaging	1.00
R4802:Rgs9	UTSW	11	109240868	missense	probably damaging	1.00
R4928:Rgs9	UTSW	11	109225744	missense	probably benign	0.08
R5073:Rgs9	UTSW	11	109227331	missense	probably benign	0.03
R5209:Rgs9	UTSW	11	109239594	critical splice acceptor site	probably null
R5286:Rgs9	UTSW	11	109239451	splice site	probably null
R5449:Rgs9	UTSW	11	109225744	missense	probably benign
R6046:Rgs9	UTSW	11	109239560	missense	probably damaging	1.00
R6267:Rgs9	UTSW	11	109268987	missense	probably benign	0.01
R6296:Rgs9	UTSW	11	109268987	missense	probably benign	0.01
R7325:Rgs9	UTSW	11	109276581	missense	probably damaging	1.00
R7453:Rgs9	UTSW	11	109227268	missense	probably damaging	1.00
R7864:Rgs9	UTSW	11	109275620	missense	probably damaging	1.00
R8035:Rgs9	UTSW	11	109273324	missense	probably benign	0.28
Z1177:Rgs9	UTSW	11	109239592	missense	probably damaging	1.00

Posted On

2015-04-16