Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Rgs9'

677264

Institutional Source

Beutler Lab

Gene Symbol

Rgs9

Ensembl Gene

ENSMUSG00000020599

Gene Name

regulator of G-protein signaling 9

Synonyms

Rgs9-2, RGS9-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109225355-109298129 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109275623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 107 (Y107C)

Ref Sequence

ENSEMBL: ENSMUSP00000020920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020920] [ENSMUST00000106704] [ENSMUST00000106706]

AlphaFold

O54828

PDB Structure

The multifunctional nature of Gbeta5/RGS9 revealed from its crystal structure [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020920
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: Y107C

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

probably damaging
Transcript: ENSMUST00000106704
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
AA Change: Y107C

Domain	Start	End	E-Value	Type
DEP	30	105	2.2e-16	SMART
Blast:G_gamma	154	229	4e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000106706
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599
AA Change: Y107C

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

Meta Mutation Damage Score

0.8486

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,406	S977C	possibly damaging	Het
4921507P07Rik	A	T	6: 50,574,048	Y474N	possibly damaging	Het
Abca8a	T	A	11: 110,069,479	D646V	probably damaging	Het
Adss	T	A	1: 177,769,960	Y378F	probably damaging	Het
Akap6	C	T	12: 53,141,536	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159	Y43C	probably benign	Het
Alk	A	C	17: 71,895,763	V1159G	probably damaging	Het
Alx3	A	T	3: 107,600,694	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,162,311		probably benign	Het
Atf7ip	C	A	6: 136,587,143	L787I	probably benign	Het
Bbs9	A	T	9: 22,678,938	E657D	possibly damaging	Het
Bean1	G	A	8: 104,182,120		probably null	Het
Cactin	G	T	10: 81,321,248	R13L	unknown	Het
Ccdc178	T	C	18: 22,067,664	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,324,562	I583T	probably damaging	Het
Ccl8	T	C	11: 82,116,107	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,639,007	K199N	probably damaging	Het
Cnbp	G	A	6: 87,845,664	S39L	probably benign	Het
Cnih3	T	A	1: 181,409,872		probably benign	Het
Cnksr3	A	T	10: 7,140,201		probably benign	Het
Cntn1	A	G	15: 92,261,499	I512V	probably benign	Het
Col20a1	A	G	2: 180,998,503		probably benign	Het
Col28a1	A	T	6: 8,127,360		probably benign	Het
Col6a2	A	T	10: 76,614,907	Y63*	probably null	Het
Copa	T	G	1: 172,097,745	F190V	probably damaging	Het
Crisp4	A	C	1: 18,136,924		probably benign	Het
Cxcl2	C	T	5: 90,904,226	Q64*	probably null	Het
Cxcr5	T	C	9: 44,514,252	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,372,606	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,241,193	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198	D57A	probably benign	Het
Ddx11	T	A	17: 66,143,465	S492T	probably benign	Het
Dhx34	C	T	7: 16,216,451	R264H	probably damaging	Het
Dnah3	T	A	7: 119,962,152	I328F		Het
Dnah5	C	T	15: 28,327,740	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,708,312	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,310,396	N982D	probably benign	Het
Dync1h1	A	G	12: 110,616,738	D423G	probably damaging	Het
Ect2l	A	C	10: 18,172,835	L213V	probably damaging	Het
Fam210a	T	C	18: 68,276,144	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266		probably null	Het
Fastkd5	T	C	2: 130,615,191	E493G	probably benign	Het
Fbxo38	T	C	18: 62,526,201	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,411	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,636,333		probably benign	Het
Frmd4b	G	T	6: 97,412,519	P129T	probably benign	Het
Galnt13	C	A	2: 54,880,126	A310E	probably benign	Het
Gm4884	T	A	7: 41,044,684	Y692*	probably null	Het
Gm6309	T	A	5: 146,168,293	D270V	probably damaging	Het
Grip1	G	T	10: 119,454,287		probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kdf1	G	T	4: 133,528,194	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,053,708	C169*	probably null	Het
Kmt2c	G	T	5: 25,315,079	T2011K	probably benign	Het
Lama1	G	A	17: 67,773,784	G1269E		Het
Lamb3	C	T	1: 193,334,874	A791V	probably benign	Het
Leng9	G	T	7: 4,148,775	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,987,604	V746L	probably benign	Het
Lrp5	T	A	19: 3,652,170	S216C	probably damaging	Het
Ltn1	T	C	16: 87,381,545	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,187,324	N345K	probably damaging	Het
Map4k1	T	A	7: 28,989,437	D304E	probably benign	Het
Mcpt1	C	T	14: 56,019,065	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,027,696	K116R	probably benign	Het
Morc2a	G	T	11: 3,678,584	A346S	probably damaging	Het
Mybpc3	A	T	2: 91,123,892	Q370L	probably benign	Het
Nars2	T	C	7: 97,002,888	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,469,971	Y118N	probably damaging	Het
Nek11	A	T	9: 105,295,372		probably null	Het
Notch4	T	C	17: 34,584,496	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,564,125	I536T	probably benign	Het
Olfr771	T	C	10: 129,160,465	Y173C	probably benign	Het
Pbld1	A	T	10: 63,076,447	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,763,124	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,374,560	D242G	probably damaging	Het
Pnmt	T	A	11: 98,387,754	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,833,437	N758K	probably damaging	Het
Prex2	A	G	1: 11,170,575		probably benign	Het
Prss3	A	T	6: 41,377,578	L7Q	probably damaging	Het
Prss43	T	A	9: 110,830,978	L370Q	probably damaging	Het
Rac1	A	T	5: 143,508,130	V104E	probably damaging	Het
Rnase13	C	T	14: 51,922,483	W66*	probably null	Het
Rrp1b	G	A	17: 32,051,714	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,519,768	S309P	probably benign	Het
Serpine3	T	A	14: 62,665,138	L66Q	probably damaging	Het
Smc5	C	T	19: 23,213,870	V924M	probably damaging	Het
Srgap1	A	T	10: 121,925,640		probably benign	Het
Stab1	T	C	14: 31,161,814	E262G	possibly damaging	Het
Ston2	A	G	12: 91,639,724	*896R	probably null	Het
Syt6	A	G	3: 103,625,625	M442V	probably benign	Het
Tap1	T	C	17: 34,189,562		probably null	Het
Tbx3	A	C	5: 119,680,559	S420R	probably benign	Het
Tespa1	A	T	10: 130,362,447	Q446L	probably benign	Het
Tifab	T	C	13: 56,176,295	M112V	probably benign	Het
Trpv5	A	T	6: 41,653,258	S633T	possibly damaging	Het
Ttn	T	C	2: 76,853,892	K838R	unknown	Het
Ttn	A	T	2: 76,914,466	V5413E	probably damaging	Het
Tub	C	A	7: 109,029,586	N415K		Het
Vmn2r3	T	C	3: 64,274,962	M439V	probably benign	Het
Vps13c	A	G	9: 67,943,454	D2231G	probably benign	Het
Wbp1	C	T	6: 83,119,932	C118Y	unknown	Het
Zdhhc20	C	T	14: 57,890,214		probably benign	Het
Zfp217	T	A	2: 170,114,471	N869I	probably benign	Het
Zfp677	T	C	17: 21,398,088	I469T	probably benign	Het
Zmym2	T	A	14: 56,947,872		probably benign	Het
Zzef1	T	G	11: 72,796,576	S94A	probably benign	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
IGL02479:Rgs9	APN	11	109225652	missense	possibly damaging	0.51
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
R8960:Rgs9	UTSW	11	109248989	missense	possibly damaging	0.46
R9157:Rgs9	UTSW	11	109225723	missense	probably damaging	0.96
Z1177:Rgs9	UTSW	11	109239592	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCCAATACAGATGTGAGCTGAC -3'
(R):5'- ATCTCATCCTCAAGCCGGAC -3'

Sequencing Primer
(F):5'- CTGACGTAAAGGTCATGGTGAC -3'
(R):5'- GGACAGCAGTCTCTACCGATTTCAG -3'

Posted On

2021-08-02