Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Rgs9'

507097

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

044405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109225355-109298129 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109268987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 173 (N173S)

Ref Sequence

ENSEMBL: ENSMUSP00000102315 (fasta)

Gene Model

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

AlphaFold

O54828

Predicted Effect

probably benign
Transcript: ENSMUST00000020920
AA Change: N173S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020920
Gene: ENSMUSG00000020599
AA Change: N173S

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 benign
Transcript: ENSMUST00000106704
AA Change: N173S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102315
Gene: ENSMUSG00000020599
AA Change: N173S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106706
AA Change: N173S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102317
Gene: ENSMUSG00000020599
AA Change: N173S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683 (GRCm38)	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754 (GRCm38)	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100 (GRCm38)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497 (GRCm38)	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586 (GRCm38)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163 (GRCm38)	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,791,180 (GRCm38)		probably null	Het
Atm	A	C	9: 53,444,000 (GRCm38)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892 (GRCm38)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723 (GRCm38)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714 (GRCm38)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599 (GRCm38)		probably null	Het
Cbll1	A	G	12: 31,487,508 (GRCm38)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369 (GRCm38)	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671 (GRCm38)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793 (GRCm38)	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010 (GRCm38)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480 (GRCm38)	Y261*	probably null	Het
Ddx11	G	A	17: 66,150,729 (GRCm38)		probably null	Het
Dgke	C	T	11: 89,040,749 (GRCm38)	V560I	probably benign	Het
Dst	A	C	1: 34,228,672 (GRCm38)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493 (GRCm38)		probably null	Het
Eif4enif1	T	A	11: 3,227,793 (GRCm38)	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764 (GRCm38)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480 (GRCm38)	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155 (GRCm38)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403 (GRCm38)	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145 (GRCm38)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324 (GRCm38)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165 (GRCm38)	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880 (GRCm38)	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989 (GRCm38)	Q91*	probably null	Het
Grb10	T	A	11: 11,970,639 (GRCm38)		probably benign	Het
Grip1	C	T	10: 120,075,464 (GRCm38)	Q696*	probably null	Het
Herc2	T	G	7: 56,204,718 (GRCm38)	L3797R	possibly damaging	Het
Herc2	T	A	7: 56,153,166 (GRCm38)	C2112*	probably null	Het
Ighm	T	C	12: 113,421,567 (GRCm38)	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063 (GRCm38)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634 (GRCm38)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419 (GRCm38)	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390 (GRCm38)	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601 (GRCm38)	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812 (GRCm38)	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744 (GRCm38)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525 (GRCm38)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989 (GRCm38)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679 (GRCm38)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm38)		probably null	Het
Ms4a7	A	T	19: 11,333,295 (GRCm38)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991 (GRCm38)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309 (GRCm38)	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895 (GRCm38)	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 153,076,971 (GRCm38)	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155 (GRCm38)	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631 (GRCm38)	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596 (GRCm38)	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392 (GRCm38)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,819,503 (GRCm38)		probably null	Het
Pcnt	A	G	10: 76,385,798 (GRCm38)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266 (GRCm38)	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522 (GRCm38)	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936 (GRCm38)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804 (GRCm38)	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541 (GRCm38)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829 (GRCm38)		probably null	Het
Rorb	C	A	19: 18,977,857 (GRCm38)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182 (GRCm38)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm38)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880 (GRCm38)	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793 (GRCm38)	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609 (GRCm38)		probably null	Het
Smco1	A	T	16: 32,274,014 (GRCm38)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464 (GRCm38)	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757 (GRCm38)	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888 (GRCm38)	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435 (GRCm38)	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865 (GRCm38)	*232R	probably null	Het
Usp16	A	G	16: 87,483,191 (GRCm38)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296 (GRCm38)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208 (GRCm38)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635 (GRCm38)		probably null	Het
Wnk4	A	T	11: 101,273,998 (GRCm38)	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800 (GRCm38)	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103 (GRCm38)	F557Y	possibly damaging	Het

Other mutations in Rgs9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Rgs9	APN	11	109,249,049 (GRCm38)	splice site	probably benign
IGL01949:Rgs9	APN	11	109,259,834 (GRCm38)	critical splice donor site	probably null
IGL02479:Rgs9	APN	11	109,225,652 (GRCm38)	missense	possibly damaging	0.51
IGL03170:Rgs9	APN	11	109,259,855 (GRCm38)	missense	probably benign	0.10
R1368:Rgs9	UTSW	11	109,248,151 (GRCm38)	missense	probably benign	0.00
R1499:Rgs9	UTSW	11	109,268,921 (GRCm38)	critical splice donor site	probably null
R1780:Rgs9	UTSW	11	109,239,499 (GRCm38)	nonsense	probably null
R2422:Rgs9	UTSW	11	109,225,777 (GRCm38)	critical splice acceptor site	probably null
R2509:Rgs9	UTSW	11	109,268,972 (GRCm38)	missense	probably benign	0.00
R2510:Rgs9	UTSW	11	109,268,972 (GRCm38)	missense	probably benign	0.00
R2511:Rgs9	UTSW	11	109,268,972 (GRCm38)	missense	probably benign	0.00
R3932:Rgs9	UTSW	11	109,275,813 (GRCm38)	splice site	probably benign
R4179:Rgs9	UTSW	11	109,281,448 (GRCm38)	critical splice donor site	probably null
R4801:Rgs9	UTSW	11	109,240,868 (GRCm38)	missense	probably damaging	1.00
R4802:Rgs9	UTSW	11	109,240,868 (GRCm38)	missense	probably damaging	1.00
R4928:Rgs9	UTSW	11	109,225,744 (GRCm38)	missense	probably benign	0.08
R5073:Rgs9	UTSW	11	109,227,331 (GRCm38)	missense	probably benign	0.03
R5209:Rgs9	UTSW	11	109,239,594 (GRCm38)	critical splice acceptor site	probably null
R5286:Rgs9	UTSW	11	109,239,451 (GRCm38)	splice site	probably null
R5449:Rgs9	UTSW	11	109,225,744 (GRCm38)	missense	probably benign
R6046:Rgs9	UTSW	11	109,239,560 (GRCm38)	missense	probably damaging	1.00
R6296:Rgs9	UTSW	11	109,268,987 (GRCm38)	missense	probably benign	0.01
R7325:Rgs9	UTSW	11	109,276,581 (GRCm38)	missense	probably damaging	1.00
R7453:Rgs9	UTSW	11	109,227,268 (GRCm38)	missense	probably damaging	1.00
R7864:Rgs9	UTSW	11	109,275,620 (GRCm38)	missense	probably damaging	1.00
R8035:Rgs9	UTSW	11	109,273,324 (GRCm38)	missense	probably benign	0.28
R8885:Rgs9	UTSW	11	109,275,623 (GRCm38)	missense	probably damaging	1.00
R8960:Rgs9	UTSW	11	109,248,989 (GRCm38)	missense	possibly damaging	0.46
R9157:Rgs9	UTSW	11	109,225,723 (GRCm38)	missense	probably damaging	0.96
Z1177:Rgs9	UTSW	11	109,239,592 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGACAAGCTGTAAGGACCC -3'
(R):5'- TGCATGTTGGAACGGTACCC -3'

Sequencing Primer
(F):5'- ACCAGATAATCCAGTTCAACTCTTG -3'
(R):5'- CGGAGCAAAAGAGTGATGTGCTATTG -3'

Posted On

2018-03-15