Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02131:Rgs6'

281188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs6

Ensembl Gene

ENSMUSG00000021219

Gene Name

regulator of G-protein signaling 6

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02131

Quality Score

Status

Chromosome

Chromosomal Location

82663325-83208835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83116269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 232 (S232P)

Ref Sequence

ENSEMBL: ENSMUSP00000125256 (fasta)

Gene Model

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

AlphaFold

Q9Z2H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000101234
AA Change: S232P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000161801
AA Change: S232P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: S232P

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

possibly damaging
Transcript: ENSMUST00000185665
AA Change: S232P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000185674
AA Change: S232P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: S232P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186081
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: S232P

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

possibly damaging
Transcript: ENSMUST00000186309
AA Change: S232P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000186323
AA Change: S232P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: S232P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186848
AA Change: S197P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: S197P

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 damaging
Transcript: ENSMUST00000191107
AA Change: S232P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000191311
AA Change: S232P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000191352
AA Change: S232P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000186458
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000200911
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: S232P

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 damaging
Transcript: ENSMUST00000202210
AA Change: S232P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: S232P

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

noncoding transcript
Transcript: ENSMUST00000187556

Predicted Effect

probably benign
Transcript: ENSMUST00000201271

SMART Domains

Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219

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

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	A	17: 79,935,084 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,185,732 (GRCm39)	Y1202C	probably damaging	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Anxa8	A	T	14: 33,812,588 (GRCm39)	D46V	possibly damaging	Het
Ap4e1	A	G	2: 126,903,849 (GRCm39)	Y917C	probably benign	Het
Arhgap40	G	A	2: 158,373,859 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,963,734 (GRCm39)	V2513A	probably damaging	Het
Dnhd1	T	C	7: 105,370,009 (GRCm39)	L4478P	probably damaging	Het
Dtx3	T	C	10: 127,029,148 (GRCm39)	D30G	probably damaging	Het
Fat2	A	G	11: 55,199,868 (GRCm39)	Y1069H	probably damaging	Het
Fbxo21	T	A	5: 118,140,155 (GRCm39)	N538K	possibly damaging	Het
Frem1	T	C	4: 82,843,091 (GRCm39)	T1748A	probably benign	Het
Kcnh6	T	C	11: 105,911,001 (GRCm39)	Y466H	probably damaging	Het
Kif2c	G	A	4: 117,035,150 (GRCm39)	S41L	possibly damaging	Het
Kir3dl2	T	A	X: 135,358,462 (GRCm39)	H52L	possibly damaging	Het
Mageb18	A	G	X: 91,163,655 (GRCm39)	C196R	possibly damaging	Het
Mrpl9	T	A	3: 94,352,020 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,425,491 (GRCm39)	I345V	possibly damaging	Het
Or10a49	T	C	7: 108,467,415 (GRCm39)	*315W	probably null	Het
Or2j3	T	A	17: 38,615,539 (GRCm39)	H271L	probably benign	Het
Or8c11	A	G	9: 38,289,203 (GRCm39)	T9A	probably benign	Het
Parp8	T	C	13: 117,047,409 (GRCm39)	N221S	probably benign	Het
Plbd1	T	C	6: 136,638,681 (GRCm39)		probably benign	Het
Recql5	C	A	11: 115,814,068 (GRCm39)	W86L	probably benign	Het
Rnf182	A	G	13: 43,821,818 (GRCm39)	H123R	probably benign	Het
Rtf2	A	G	2: 172,308,212 (GRCm39)	T204A	unknown	Het
Sema4d	T	C	13: 51,856,973 (GRCm39)		probably null	Het
Septin8	T	C	11: 53,428,684 (GRCm39)	S408P	possibly damaging	Het
Serpini1	A	G	3: 75,548,011 (GRCm39)	N396D	probably benign	Het
Slc26a2	A	C	18: 61,331,884 (GRCm39)	F516V	possibly damaging	Het
Tcf4	A	G	18: 69,697,697 (GRCm39)		probably benign	Het
Trrap	G	T	5: 144,777,246 (GRCm39)	G3045W	probably damaging	Het
Tspo2	T	A	17: 48,756,089 (GRCm39)	T91S	possibly damaging	Het
Ttn	T	C	2: 76,567,958 (GRCm39)	D27645G	probably damaging	Het
Uba6	G	T	5: 86,297,936 (GRCm39)	T246K	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wwp2	T	A	8: 108,278,950 (GRCm39)	M136K	probably damaging	Het
Zranb3	A	T	1: 127,920,688 (GRCm39)	V412D	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
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
R8267:Rgs6	UTSW	12	82,698,669 (GRCm39)	missense	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

Posted On

2015-04-16