Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Rgs11'

683536

Institutional Source

Beutler Lab

Gene Symbol

Rgs11

Ensembl Gene

ENSMUSG00000024186

Gene Name

regulator of G-protein signaling 11

Synonyms

MMRRC Submission

068715-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26421925-26430298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26427233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 388 (V388A)

Ref Sequence

ENSEMBL: ENSMUSP00000025020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025020] [ENSMUST00000114988] [ENSMUST00000118487] [ENSMUST00000122058]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025020
AA Change: V388A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: V388A

Domain	Start	End	E-Value	Type
DEP	34	109	7.78e-17	SMART
G_gamma	220	284	1.38e-19	SMART
GGL	223	284	1.1e-26	SMART
RGS	303	418	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114988

SMART Domains

Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118487

SMART Domains

Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122058
AA Change: V386A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: V386A

Domain	Start	End	E-Value	Type
DEP	32	107	7.78e-17	SMART
G_gamma	218	282	1.38e-19	SMART
GGL	221	282	1.1e-26	SMART
RGS	301	416	6.23e-47	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,184,710 (GRCm39)	E476G	unknown	Het
Aars1	G	A	8: 111,766,849 (GRCm39)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,624,593 (GRCm39)	V795L	probably benign	Het
Adam30	A	G	3: 98,069,378 (GRCm39)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,453,996 (GRCm39)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,660,223 (GRCm39)	I17V	probably null	Het
Anapc1	C	A	2: 128,483,322 (GRCm39)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,738,575 (GRCm39)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,933,806 (GRCm39)	K267*	probably null	Het
Apob	T	C	12: 8,065,990 (GRCm39)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,750,325 (GRCm39)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,809,096 (GRCm39)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,342,410 (GRCm39)	L42R	probably benign	Het
Ccer2	G	A	7: 28,456,113 (GRCm39)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,833,383 (GRCm39)	F187S	probably damaging	Het
Cd109	G	A	9: 78,614,810 (GRCm39)	V1286I	probably benign	Het
Cfap210	T	C	2: 69,617,643 (GRCm39)	H46R	possibly damaging	Het
Cfap46	G	T	7: 139,259,849 (GRCm39)	T148N	probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Cuzd1	A	G	7: 130,923,754 (GRCm39)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,840,751 (GRCm39)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,204,747 (GRCm39)	L240P	probably benign	Het
Dst	A	T	1: 34,286,864 (GRCm39)	R3398S	probably damaging	Het
Eml6	A	G	11: 29,734,182 (GRCm39)	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,086,435 (GRCm39)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,103,057 (GRCm39)	I339V	probably benign	Het
Ggcx	T	C	6: 72,406,265 (GRCm39)		probably null	Het
Gm9195	A	G	14: 72,691,338 (GRCm39)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,703,616 (GRCm39)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,662,922 (GRCm39)	I546T	probably damaging	Het
Map3k5	T	A	10: 19,955,000 (GRCm39)	F624L	possibly damaging	Het
Map7	T	A	10: 20,145,336 (GRCm39)		probably null	Het
Mdga2	A	T	12: 66,844,409 (GRCm39)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,019,791 (GRCm39)	C143R	probably benign	Het
Mmut	G	T	17: 41,249,481 (GRCm39)	R152L	probably benign	Het
Ncam1	G	T	9: 49,418,825 (GRCm39)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,128,063 (GRCm39)	N257K	probably benign	Het
Or1e19	A	G	11: 73,316,651 (GRCm39)	S53P	probably benign	Het
Or1p1c	A	T	11: 74,160,304 (GRCm39)	I30F	probably benign	Het
Or2b7	T	A	13: 21,740,016 (GRCm39)	M59L	possibly damaging	Het
Or51i1	A	T	7: 103,670,762 (GRCm39)	Y254*	probably null	Het
Or52n1	A	T	7: 104,383,248 (GRCm39)	F108I	probably damaging	Het
Or8k38	C	T	2: 86,488,472 (GRCm39)	C110Y	probably benign	Het
Pamr1	T	A	2: 102,441,963 (GRCm39)	V184D	probably damaging	Het
Paqr9	A	T	9: 95,442,888 (GRCm39)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,690,126 (GRCm39)		probably null	Het
Pkm	T	A	9: 59,578,923 (GRCm39)	I301N	probably damaging	Het
Pramel1	T	A	4: 143,123,961 (GRCm39)	I212N	probably benign	Het
Prdm6	A	T	18: 53,701,373 (GRCm39)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,386,870 (GRCm39)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,704,662 (GRCm39)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,946,593 (GRCm39)	Y61F	probably damaging	Het
Resf1	T	A	6: 149,229,906 (GRCm39)	I984N	probably damaging	Het
Rictor	A	G	15: 6,812,566 (GRCm39)	I901V	probably benign	Het
Riox2	A	G	16: 59,312,195 (GRCm39)	D444G	probably benign	Het
Scn2a	T	A	2: 65,594,014 (GRCm39)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,945,818 (GRCm39)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,556,815 (GRCm39)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,830,269 (GRCm39)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,628,980 (GRCm39)	M596L	probably benign	Het
Smarce1	A	G	11: 99,110,511 (GRCm39)	I100T	possibly damaging	Het
Stk32c	A	T	7: 138,705,161 (GRCm39)	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,217,266 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,461,177 (GRCm39)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,637,792 (GRCm39)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Trim55	C	A	3: 19,713,341 (GRCm39)	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,774,531 (GRCm39)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,605,916 (GRCm39)	T276I	possibly damaging	Het

Other mutations in Rgs11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Rgs11	APN	17	26,426,371 (GRCm39)	missense	probably damaging	1.00
IGL01617:Rgs11	APN	17	26,427,224 (GRCm39)	missense	probably damaging	1.00
IGL02150:Rgs11	APN	17	26,421,968 (GRCm39)	missense	probably benign	0.05
IGL02610:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02612:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02617:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02669:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02670:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02674:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02706:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02707:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
IGL02741:Rgs11	APN	17	26,426,605 (GRCm39)	missense	probably benign	0.31
R0147:Rgs11	UTSW	17	26,426,433 (GRCm39)	critical splice donor site	probably null
R0148:Rgs11	UTSW	17	26,426,433 (GRCm39)	critical splice donor site	probably null
R0508:Rgs11	UTSW	17	26,426,443 (GRCm39)	splice site	probably benign
R0744:Rgs11	UTSW	17	26,422,292 (GRCm39)	missense	probably damaging	1.00
R1479:Rgs11	UTSW	17	26,427,257 (GRCm39)	splice site	probably null
R1599:Rgs11	UTSW	17	26,427,223 (GRCm39)	missense	probably damaging	1.00
R1779:Rgs11	UTSW	17	26,429,640 (GRCm39)	missense	probably damaging	1.00
R3692:Rgs11	UTSW	17	26,423,302 (GRCm39)	unclassified	probably benign
R3807:Rgs11	UTSW	17	26,422,474 (GRCm39)	missense	probably damaging	0.99
R3889:Rgs11	UTSW	17	26,426,561 (GRCm39)	missense	probably damaging	0.98
R4689:Rgs11	UTSW	17	26,423,521 (GRCm39)	critical splice donor site	probably null
R4832:Rgs11	UTSW	17	26,426,542 (GRCm39)	missense	probably benign	0.00
R5052:Rgs11	UTSW	17	26,426,947 (GRCm39)	intron	probably benign
R5330:Rgs11	UTSW	17	26,421,947 (GRCm39)	start codon destroyed	probably benign	0.01
R5331:Rgs11	UTSW	17	26,421,947 (GRCm39)	start codon destroyed	probably benign	0.01
R5683:Rgs11	UTSW	17	26,424,155 (GRCm39)	missense	probably benign	0.32
R5879:Rgs11	UTSW	17	26,422,437 (GRCm39)	unclassified	probably benign
R6156:Rgs11	UTSW	17	26,429,439 (GRCm39)	nonsense	probably null
R6671:Rgs11	UTSW	17	26,427,272 (GRCm39)	missense	probably damaging	1.00
R7432:Rgs11	UTSW	17	26,426,734 (GRCm39)	missense	probably damaging	0.99
R7609:Rgs11	UTSW	17	26,426,415 (GRCm39)	missense	probably damaging	1.00
R7795:Rgs11	UTSW	17	26,426,552 (GRCm39)	missense	possibly damaging	0.88
R7820:Rgs11	UTSW	17	26,424,169 (GRCm39)	splice site	probably null
R8025:Rgs11	UTSW	17	26,423,359 (GRCm39)	critical splice donor site	probably null
R8755:Rgs11	UTSW	17	26,422,346 (GRCm39)	missense	probably damaging	0.98
R8856:Rgs11	UTSW	17	26,423,484 (GRCm39)	missense	probably damaging	0.96
R9214:Rgs11	UTSW	17	26,427,260 (GRCm39)	missense	probably damaging	1.00
Z1088:Rgs11	UTSW	17	26,424,746 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCTTGGTGGACTCTGTGTATC -3'
(R):5'- GTACCAGAGCAGCAAGTTGAC -3'

Sequencing Primer
(F):5'- GGTGGACTCTGTGTATCAGTAAG -3'
(R):5'- GAGGCAATACCCACTCCTGATGG -3'

Posted On

2021-10-11