Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Rgs11'

588520

Institutional Source

Beutler Lab

Gene Symbol

Rgs11

Ensembl Gene

ENSMUSG00000024186

Gene Name

regulator of G-protein signaling 11

Synonyms

MMRRC Submission

045714-MU

Accession Numbers

Essential gene?

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

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26421925-26430298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26426415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 245 (S245P)

Ref Sequence

ENSEMBL: ENSMUSP00000025020 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025020
AA Change: S245P

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

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: S245P

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 damaging
Transcript: ENSMUST00000122058
AA Change: S243P

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

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: S243P

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (69/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,896,744 (GRCm39)	Y288C	probably benign	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Agl	C	A	3: 116,600,928 (GRCm39)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,612,833 (GRCm39)	T253A	probably benign	Het
Ankrd39	G	A	1: 36,578,546 (GRCm39)	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,568,348 (GRCm39)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,792,817 (GRCm39)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,417,044 (GRCm39)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,874,482 (GRCm39)	P546T	probably damaging	Het
Cfap61	T	C	2: 145,954,453 (GRCm39)	C231R	unknown	Het
Cnih4	T	C	1: 180,983,467 (GRCm39)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,469,645 (GRCm39)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ercc6	A	G	14: 32,288,318 (GRCm39)	H830R	probably benign	Het
Exoc7	T	C	11: 116,180,085 (GRCm39)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,806,850 (GRCm39)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,676,310 (GRCm39)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,257,186 (GRCm39)	D1413G	probably benign	Het
Klk1b8	G	A	7: 43,451,603 (GRCm39)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,664,891 (GRCm39)		probably null	Het
Lce3f	A	T	3: 92,900,403 (GRCm39)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,468,266 (GRCm39)	M223V	probably benign	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Mc1r	A	T	8: 124,135,032 (GRCm39)	I262F	probably damaging	Het
Mecom	A	G	3: 30,010,591 (GRCm39)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,563,687 (GRCm39)	V116A	possibly damaging	Het
Mtcl3	A	T	10: 29,024,224 (GRCm39)	D380V	probably damaging	Het
Muc5b	T	A	7: 141,415,466 (GRCm39)	V2804D	possibly damaging	Het
Myo15a	T	C	11: 60,379,637 (GRCm39)	V279A		Het
Nhlrc2	A	G	19: 56,583,328 (GRCm39)	I600V	probably benign	Het
Nipbl	T	C	15: 8,335,356 (GRCm39)	Q2183R	probably benign	Het
Obscn	C	T	11: 58,891,125 (GRCm39)	E7136K	unknown	Het
Or10ag56	T	C	2: 87,139,853 (GRCm39)	V260A	probably benign	Het
Or5p4	T	A	7: 107,680,753 (GRCm39)	F251I	probably damaging	Het
Or8c9	A	C	9: 38,241,520 (GRCm39)	L209F	possibly damaging	Het
Or8g37	C	T	9: 39,731,583 (GRCm39)	T216I	probably benign	Het
Otop3	T	C	11: 115,230,546 (GRCm39)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,622,881 (GRCm39)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,327,382 (GRCm39)	V193A	probably benign	Het
Phf3	T	C	1: 30,844,582 (GRCm39)	Y1459C	probably benign	Het
Pias4	A	T	10: 80,993,860 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,284,852 (GRCm39)	N159S	probably benign	Het
Plekha7	T	C	7: 115,763,681 (GRCm39)	D307G	probably benign	Het
Ptprd	T	C	4: 75,990,240 (GRCm39)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,247,734 (GRCm39)	R62S	probably benign	Het
Ripor3	G	A	2: 167,826,490 (GRCm39)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,276,940 (GRCm39)	P13S	possibly damaging	Het
Saxo5	A	T	8: 3,526,057 (GRCm39)	H70L	probably benign	Het
Scin	C	T	12: 40,174,588 (GRCm39)	C165Y	probably damaging	Het
Senp7	T	C	16: 55,932,000 (GRCm39)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,331,532 (GRCm39)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,283,545 (GRCm39)	P446S	probably damaging	Het
Spag17	T	A	3: 100,002,911 (GRCm39)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,930,575 (GRCm39)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,117,777 (GRCm39)	N480D	probably benign	Het
Tbk1	A	G	10: 121,388,406 (GRCm39)	L590S	probably damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,728 (GRCm39)	S109P	unknown	Het
Tsga10	A	T	1: 37,843,974 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,626,107 (GRCm39)	L14984*	probably null	Het
Tyr	T	C	7: 87,133,092 (GRCm39)	T325A	probably benign	Het
U2surp	A	T	9: 95,367,732 (GRCm39)		probably null	Het
Uba6	C	A	5: 86,294,934 (GRCm39)	K368N	probably benign	Het
Upb1	A	G	10: 75,272,035 (GRCm39)	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,455 (GRCm39)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,023,748 (GRCm39)	K541R	probably damaging	Het
Wrn	A	G	8: 33,800,741 (GRCm39)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,820,066 (GRCm39)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,819,588 (GRCm39)	H105L	probably benign	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
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
R8977:Rgs11	UTSW	17	26,427,233 (GRCm39)	missense	probably damaging	1.00
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'- CTGTGTAACCCAAGCCAACTG -3'
(R):5'- TACTTGGGCGCATTCATGGC -3'

Sequencing Primer
(F):5'- AACTGTGTCTTTCAGACCTAGAGC -3'
(R):5'- ATTCATGGCCCAGTAGGTGACATC -3'

Posted On

2019-10-24