Mutagenetix > Incidental Mutation

Incidental Mutation 'R8267:Rgs6'

639595

Institutional Source

Beutler Lab

Gene Symbol

Rgs6

Ensembl Gene

ENSMUSG00000021219

Gene Name

regulator of G-protein signaling 6

Synonyms

MMRRC Submission

067651-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82663325-83208835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82698669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 23 (M23L)

Ref Sequence

ENSEMBL: ENSMUSP00000125256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000186458] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191311] [ENSMUST00000191352] [ENSMUST00000200861] [ENSMUST00000200911] [ENSMUST00000201271] [ENSMUST00000201602] [ENSMUST00000201861] [ENSMUST00000202210]

AlphaFold

Q9Z2H2

Predicted Effect

probably benign
Transcript: ENSMUST00000101234
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: M23L

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: ENSMUST00000161801
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: M23L

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
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: M23L

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: ENSMUST00000200861
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144118
Gene: ENSMUSG00000021219
AA Change: M23L

Domain	Start	End	E-Value	Type
DEP	40	109	3.2e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200911
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: M23L

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: ENSMUST00000201271
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: M23L

Domain	Start	End	E-Value	Type
DEP	40	115	1.6e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201602
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219
AA Change: M23L

Domain	Start	End	E-Value	Type
Pfam:DEP	43	73	1.1e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201861
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144395
Gene: ENSMUSG00000021219
AA Change: M23L

Domain	Start	End	E-Value	Type
Pfam:DEP	43	88	5.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202210
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: M23L

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Acbd3	A	G	1: 180,574,413 (GRCm39)	D379G	probably damaging	Het
Akp3	A	T	1: 87,055,461 (GRCm39)	T503S	unknown	Het
Antxr2	T	A	5: 98,113,621 (GRCm39)		probably null	Het
Col9a1	A	T	1: 24,224,267 (GRCm39)	T150S	unknown	Het
Coro1c	T	C	5: 113,985,636 (GRCm39)	D287G	probably damaging	Het
Cox16	T	C	12: 81,527,713 (GRCm39)	T45A	probably benign	Het
Cux1	A	G	5: 136,311,853 (GRCm39)	L1161P	probably damaging	Het
Dock10	T	C	1: 80,518,045 (GRCm39)	T1311A	probably benign	Het
Dop1a	C	T	9: 86,396,054 (GRCm39)	P839S	possibly damaging	Het
Ehbp1	T	A	11: 22,096,562 (GRCm39)	D334V	probably benign	Het
H2-T15	A	G	17: 36,367,675 (GRCm39)	V221A	possibly damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hmcn1	A	G	1: 150,735,005 (GRCm39)	F169S	probably damaging	Het
Hmcn2	A	G	2: 31,349,191 (GRCm39)	T4977A	probably benign	Het
Kcnq5	A	T	1: 21,575,609 (GRCm39)	I279N	probably damaging	Het
Lnx2	A	T	5: 146,965,901 (GRCm39)	I406N	probably damaging	Het
Mdn1	T	C	4: 32,742,485 (GRCm39)	Y3908H	possibly damaging	Het
Nme7	A	G	1: 164,168,344 (GRCm39)	I128V	probably benign	Het
Optn	T	C	2: 5,059,462 (GRCm39)	T19A	probably benign	Het
Or10g1b	A	G	14: 52,627,903 (GRCm39)	F109S	probably damaging	Het
Or4k37	A	G	2: 111,159,160 (GRCm39)	Y132C	probably benign	Het
Pmch	A	T	10: 87,926,979 (GRCm39)		probably benign	Het
Rbms3	T	C	9: 116,885,823 (GRCm39)	N141D	possibly damaging	Het
Reln	A	G	5: 22,209,110 (GRCm39)	L1156P	probably damaging	Het
Sh3tc1	T	C	5: 35,863,751 (GRCm39)	Y812C	probably benign	Het
Smap1	T	A	1: 23,905,365 (GRCm39)	K143I	probably damaging	Het
Thbs1	A	T	2: 117,952,994 (GRCm39)	H868L	probably damaging	Het
Tnip3	T	G	6: 65,582,826 (GRCm39)	V140G	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,752 (GRCm39)	C375*	probably null	Het
Vmn2r19	T	C	6: 123,313,221 (GRCm39)	S764P	possibly damaging	Het
Vmn2r22	T	C	6: 123,615,000 (GRCm39)	T197A	possibly damaging	Het
Vmn2r59	T	G	7: 41,661,521 (GRCm39)	T765P	probably damaging	Het
Vmn2r71	A	G	7: 85,264,704 (GRCm39)	K12R	probably benign	Het
Vps41	T	C	13: 18,994,641 (GRCm39)	S163P	probably benign	Het
Wdr97	C	T	15: 76,240,794 (GRCm39)	A494V		Het
Zfp382	G	C	7: 29,833,929 (GRCm39)	G527R	probably damaging	Het

Other mutations in Rgs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Rgs6	APN	12	83,098,097 (GRCm39)	missense	probably benign	0.01
IGL02131:Rgs6	APN	12	83,116,269 (GRCm39)	missense	probably damaging	1.00
IGL02354:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02361:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02568:Rgs6	APN	12	83,117,376 (GRCm39)	missense	probably benign	0.25
IGL02598:Rgs6	APN	12	83,138,571 (GRCm39)	missense	probably benign	0.02
IGL03146:Rgs6	APN	12	83,099,312 (GRCm39)	missense	probably damaging	1.00
IGL03248:Rgs6	APN	12	83,099,324 (GRCm39)	splice site	probably benign
IGL03098:Rgs6	UTSW	12	83,032,150 (GRCm39)	missense	probably damaging	1.00
IGL03147:Rgs6	UTSW	12	83,138,620 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R0270:Rgs6	UTSW	12	83,180,463 (GRCm39)	missense	probably damaging	1.00
R0390:Rgs6	UTSW	12	83,180,451 (GRCm39)	missense	probably damaging	1.00
R0540:Rgs6	UTSW	12	83,106,578 (GRCm39)	nonsense	probably null
R0630:Rgs6	UTSW	12	83,094,324 (GRCm39)	splice site	probably benign
R1479:Rgs6	UTSW	12	83,163,018 (GRCm39)	missense	probably damaging	1.00
R1533:Rgs6	UTSW	12	83,138,547 (GRCm39)	missense	probably benign	0.00
R1545:Rgs6	UTSW	12	83,162,951 (GRCm39)	missense	probably damaging	0.99
R2161:Rgs6	UTSW	12	83,138,578 (GRCm39)	missense	probably damaging	1.00
R2421:Rgs6	UTSW	12	83,163,057 (GRCm39)	missense	possibly damaging	0.93
R4089:Rgs6	UTSW	12	83,110,261 (GRCm39)	missense	probably damaging	1.00
R4573:Rgs6	UTSW	12	83,112,789 (GRCm39)	missense	probably damaging	1.00
R4821:Rgs6	UTSW	12	83,114,185 (GRCm39)	critical splice acceptor site	probably null
R6228:Rgs6	UTSW	12	83,112,738 (GRCm39)	missense	probably damaging	0.99
R7023:Rgs6	UTSW	12	83,138,878 (GRCm39)	intron	probably benign
R7585:Rgs6	UTSW	12	83,153,644 (GRCm39)	missense	probably damaging	1.00
R7610:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R7798:Rgs6	UTSW	12	83,116,293 (GRCm39)	missense	probably benign	0.02
R8003:Rgs6	UTSW	12	83,032,144 (GRCm39)	missense	probably damaging	0.99
R8011:Rgs6	UTSW	12	83,163,066 (GRCm39)	missense	probably null	0.32
R8081:Rgs6	UTSW	12	83,094,347 (GRCm39)	nonsense	probably null
R8248:Rgs6	UTSW	12	83,184,478 (GRCm39)	intron	probably benign
R8285:Rgs6	UTSW	12	83,162,949 (GRCm39)	missense	probably benign	0.14
R8932:Rgs6	UTSW	12	83,112,733 (GRCm39)	missense	probably damaging	1.00
R9398:Rgs6	UTSW	12	82,698,615 (GRCm39)	missense	probably benign	0.09
R9415:Rgs6	UTSW	12	83,184,166 (GRCm39)	missense	probably benign	0.06
RF008:Rgs6	UTSW	12	83,110,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCGAAAGACACTTATCTGTC -3'
(R):5'- TGAAGAAGCAGACGATCCCG -3'

Sequencing Primer
(F):5'- CTTTCCATGCTTTCTTTTTAAAAGGC -3'
(R):5'- GGCAATCTGGGGTTTTACACACAAC -3'

Posted On

2020-07-28