Mutagenetix > Incidental Mutations

Incidental Mutation 'R7023:Rgs6'

545797

Institutional Source

Beutler Lab

Gene Symbol

Rgs6

Ensembl Gene

ENSMUSG00000021219

Gene Name

regulator of G-protein signaling 6

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82588292-83162056 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 83092104 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000186458] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191311] [ENSMUST00000191352] [ENSMUST00000200911] [ENSMUST00000202210]

Predicted Effect

probably benign
Transcript: ENSMUST00000101234

SMART Domains

Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000161801
AA Change: L345H

SMART Domains

Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: L345H

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185665

SMART Domains

Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185674

SMART Domains

Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186081

SMART Domains

Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART
low complexity region	417	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186309

SMART Domains

Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART
low complexity region	494	499	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186323

SMART Domains

Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186458

SMART Domains

Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186848

SMART Domains

Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	5	80	1.6e-26	SMART
G_gamma	220	284	1.1e-27	SMART
GGL	223	284	8.8e-30	SMART
RGS	301	416	7.6e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191107

SMART Domains

Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191311

SMART Domains

Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191352

SMART Domains

Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200911

SMART Domains

Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202210

SMART Domains

Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,473,907	H372R	probably benign	Het
4933405O20Rik	T	C	7: 50,600,253	I345T	probably damaging	Het
4933427D14Rik	A	G	11: 72,178,403		probably null	Het
6430548M08Rik	T	C	8: 120,145,357	V8A	probably damaging	Het
9530053A07Rik	T	A	7: 28,140,038	C425*	probably null	Het
Adam2	A	T	14: 66,043,056	D501E	probably benign	Het
Agbl3	T	C	6: 34,814,769	V602A	probably benign	Het
Akap12	T	C	10: 4,356,895	M1235T	probably benign	Het
Arid5a	G	A	1: 36,317,550		probably benign	Het
Asxl1	T	A	2: 153,400,549	D1006E	probably benign	Het
AY074887	T	C	9: 54,950,865		probably benign	Het
Btbd9	T	A	17: 30,527,572	R93S	probably benign	Het
Cabp2	A	T	19: 4,082,658		probably null	Het
Cacna1e	T	C	1: 154,725,693	D76G	probably null	Het
Cd177	A	G	7: 24,759,762	I74T	probably benign	Het
Chchd1	G	A	14: 20,703,242		probably benign	Het
Col28a1	T	C	6: 8,083,763	R565G	possibly damaging	Het
Cpvl	T	A	6: 53,967,812	I80F	probably benign	Het
Csgalnact1	T	C	8: 68,358,429	T530A	probably benign	Het
Cybrd1	A	G	2: 71,138,578	D265G	probably benign	Het
Cyp2c69	A	T	19: 39,877,542	N202K	probably benign	Het
D1Pas1	A	G	1: 186,968,008	N45D	probably damaging	Het
Dclre1a	A	G	19: 56,540,206	V839A	probably damaging	Het
Degs1	A	T	1: 182,279,065	Y210N	probably damaging	Het
Doc2g	A	G	19: 4,004,778	S220G	probably benign	Het
Epb41l2	T	A	10: 25,512,977	L885Q	probably damaging	Het
Fabp1	A	T	6: 71,203,085		probably null	Het
Fat2	G	A	11: 55,310,502	S582L	probably benign	Het
Fras1	A	G	5: 96,710,084	N2079S	probably benign	Het
Gdf6	T	C	4: 9,860,210	Y431H	probably damaging	Het
Gfra1	A	T	19: 58,454,332	L6Q	probably damaging	Het
Gm45861	T	G	8: 27,581,006	S1305A	unknown	Het
Gse1	T	C	8: 120,230,648		probably benign	Het
Kmt2e	A	G	5: 23,500,487	H1303R	possibly damaging	Het
Lck	T	C	4: 129,548,865	D499G	possibly damaging	Het
Lepr	A	T	4: 101,789,287	Y805F	probably damaging	Het
Lin7a	A	T	10: 107,382,628	Y11F	possibly damaging	Het
Lrrc43	A	G	5: 123,503,763	K559E	probably damaging	Het
Megf6	T	C	4: 154,254,145	L467P	possibly damaging	Het
Mprip	G	A	11: 59,737,389	G221R	probably damaging	Het
Myo5c	T	C	9: 75,301,456	V1683A	probably damaging	Het
Nbeal2	G	A	9: 110,638,618	R501W	probably damaging	Het
Ncf1	G	T	5: 134,225,262	A219E	possibly damaging	Het
Nckap1l	T	C	15: 103,476,066	I616T	probably benign	Het
Nlrp2	A	T	7: 5,328,229	C389*	probably null	Het
Nrg3	T	C	14: 38,376,376	E507G	probably damaging	Het
Olfr1180	A	G	2: 88,412,415	L81P	probably damaging	Het
P4ha2	A	T	11: 54,131,246	T532S	probably benign	Het
Pappa	A	T	4: 65,351,718	H1623L	probably benign	Het
Paqr6	A	G	3: 88,366,046	Y115C	probably damaging	Het
Pcolce2	A	T	9: 95,678,468	Q190L	probably benign	Het
Poll	A	G	19: 45,558,838	I65T	probably benign	Het
Prmt9	T	C	8: 77,549,457		probably benign	Het
Prpf39	T	C	12: 65,053,300	V130A	possibly damaging	Het
Prpf6	A	G	2: 181,620,640	D144G	probably damaging	Het
Rimbp2	A	G	5: 128,802,783		probably null	Het
Ripor2	A	G	13: 24,671,846	T90A	probably benign	Het
Rnf150	T	C	8: 82,864,077	F23S	probably damaging	Het
Rpp40	G	A	13: 35,898,906	R200W	possibly damaging	Het
Rtp3	G	A	9: 110,986,646	S217L	probably benign	Het
Sacs	A	C	14: 61,208,815	K2770T	probably benign	Het
Scn10a	A	T	9: 119,613,544	I1545N	probably damaging	Het
Scn2b	G	T	9: 45,126,140	V162L	probably damaging	Het
Sema6d	A	G	2: 124,664,911	T880A	probably damaging	Het
Slc36a4	A	G	9: 15,719,633	D16G	probably benign	Het
Slc4a8	T	A	15: 100,791,643	I378K	probably benign	Het
Smco2	T	A	6: 146,858,856	L70*	probably null	Het
Sptb	C	T	12: 76,625,088	V364I	probably damaging	Het
Susd4	A	G	1: 182,765,048	H3R	probably damaging	Het
Tbc1d16	T	C	11: 119,158,791	Q293R	probably damaging	Het
Tnfsf9	T	A	17: 57,107,317	M248K	possibly damaging	Het
Toporsl	A	G	4: 52,611,211	N368S	possibly damaging	Het
Trip11	T	C	12: 101,885,867	E361G	probably benign	Het
Trrap	T	A	5: 144,792,154	M626K	possibly damaging	Het
Ttn	A	T	2: 76,942,874	S2395T	probably damaging	Het
Ubqln3	T	C	7: 104,141,423	R487G	probably damaging	Het
Vdac1	A	G	11: 52,374,366	Y22C	probably damaging	Het
Vmn1r59	C	T	7: 5,454,478	M94I	probably benign	Het
Vmn2r10	G	T	5: 109,002,028	D383E	probably damaging	Het
Vmn2r115	T	C	17: 23,359,811	Y753H	probably damaging	Het
Vmn2r97	G	T	17: 18,914,401	C27F	probably damaging	Het
Wasf1	T	A	10: 40,936,475	V420E	unknown	Het
Zfp94	A	T	7: 24,303,396	L201Q	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,366,018		probably benign	Het
Zmym4	C	A	4: 126,868,800	R1410L	probably damaging	Het

Other mutations in Rgs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Rgs6	APN	12	83051323	missense	probably benign	0.01
IGL02131:Rgs6	APN	12	83069495	missense	probably damaging	1.00
IGL02354:Rgs6	APN	12	82618619	intron	probably benign
IGL02361:Rgs6	APN	12	82618619	intron	probably benign
IGL02568:Rgs6	APN	12	83070602	missense	probably benign	0.25
IGL02598:Rgs6	APN	12	83091797	missense	probably benign	0.02
IGL03146:Rgs6	APN	12	83052538	missense	probably damaging	1.00
IGL03248:Rgs6	APN	12	83052550	splice site	probably benign
IGL03098:Rgs6	UTSW	12	82985376	missense	probably damaging	1.00
IGL03147:Rgs6	UTSW	12	83091846	missense	probably damaging	0.99
PIT4453001:Rgs6	UTSW	12	83091779	missense	probably damaging	1.00
R0270:Rgs6	UTSW	12	83133689	missense	probably damaging	1.00
R0390:Rgs6	UTSW	12	83133677	missense	probably damaging	1.00
R0540:Rgs6	UTSW	12	83059804	nonsense	probably null
R0630:Rgs6	UTSW	12	83047550	splice site	probably benign
R1479:Rgs6	UTSW	12	83116244	missense	probably damaging	1.00
R1533:Rgs6	UTSW	12	83091773	missense	probably benign	0.00
R1545:Rgs6	UTSW	12	83116177	missense	probably damaging	0.99
R2161:Rgs6	UTSW	12	83091804	missense	probably damaging	1.00
R2421:Rgs6	UTSW	12	83116283	missense	possibly damaging	0.93
R4089:Rgs6	UTSW	12	83063487	missense	probably damaging	1.00
R4573:Rgs6	UTSW	12	83066015	missense	probably damaging	1.00
R4821:Rgs6	UTSW	12	83067411	critical splice acceptor site	probably null
R6228:Rgs6	UTSW	12	83065964	missense	probably damaging	0.99
R7585:Rgs6	UTSW	12	83106870	missense	probably damaging	1.00
R7610:Rgs6	UTSW	12	83091779	missense	probably damaging	1.00
R7798:Rgs6	UTSW	12	83069519	missense	probably benign	0.02
R8003:Rgs6	UTSW	12	82985370	missense	probably damaging	0.99
R8011:Rgs6	UTSW	12	83116292	missense	probably null	0.32
RF008:Rgs6	UTSW	12	83063449	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATCAGCGATGACATCACC -3'
(R):5'- CCTAGATGAAGTTCTTCAACCATCG -3'

Sequencing Primer
(F):5'- TCAGCGATGACATCACCTTATGGG -3'
(R):5'- CGTTGTTAAATCAGCTTGTACCAGC -3'

Posted On

2019-05-13