Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Rgs12'

351106

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

1200016K18Rik, 4632412M04Rik

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34949445-35039644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35020356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 97 (W97R)

Ref Sequence

ENSEMBL: ENSMUSP00000109924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285] [ENSMUST00000156339] [ENSMUST00000225237]

AlphaFold

Q8CGE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030984
AA Change: W745R

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

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: W745R

Domain	Start	End	E-Value	Type
PDZ	29	98	5.25e-18	SMART
PTB	224	373	5.05e-28	SMART
low complexity region	443	456	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
RGS	715	832	2.84e-41	SMART
low complexity region	849	865	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC
low complexity region	911	928	N/A	INTRINSIC
RBD	962	1032	3.12e-28	SMART
RBD	1034	1104	2.44e-21	SMART
GoLoco	1187	1209	9.74e-9	SMART
low complexity region	1259	1280	N/A	INTRINSIC
low complexity region	1292	1308	N/A	INTRINSIC
low complexity region	1359	1378	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000087684
AA Change: W745R

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

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: W745R

Domain	Start	End	E-Value	Type
PDZ	29	98	5.25e-18	SMART
PTB	224	373	5.05e-28	SMART
low complexity region	443	456	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
RGS	715	832	2.84e-41	SMART
Pfam:RGS12_us1	836	953	4.3e-61	PFAM
RBD	962	1032	3.12e-28	SMART
RBD	1034	1104	2.44e-21	SMART
Pfam:RGS12_us2	1106	1180	2.4e-37	PFAM
GoLoco	1187	1209	9.74e-9	SMART
Pfam:RGS12_usC	1238	1379	9.2e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114280
AA Change: W87R

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

SMART Domains

Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: W87R

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114281
AA Change: W87R

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

SMART Domains

Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: W87R

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART
GoLoco	529	551	9.74e-9	SMART
low complexity region	601	622	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
low complexity region	701	720	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114283
AA Change: W87R

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

SMART Domains

Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: W87R

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART
GoLoco	529	551	9.74e-9	SMART
low complexity region	601	622	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
low complexity region	697	729	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114284
AA Change: W97R

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

SMART Domains

Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: W97R

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
RGS	67	184	2.84e-41	SMART
low complexity region	201	217	N/A	INTRINSIC
low complexity region	220	232	N/A	INTRINSIC
low complexity region	263	280	N/A	INTRINSIC
RBD	314	384	3.12e-28	SMART
RBD	386	456	2.44e-21	SMART
GoLoco	539	561	9.74e-9	SMART
low complexity region	611	632	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC
low complexity region	711	730	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114285
AA Change: W97R

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

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: W97R

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
RGS	67	184	2.84e-41	SMART
low complexity region	201	217	N/A	INTRINSIC
low complexity region	220	232	N/A	INTRINSIC
low complexity region	263	280	N/A	INTRINSIC
RBD	314	384	3.12e-28	SMART
RBD	386	456	2.44e-21	SMART
GoLoco	539	561	9.74e-9	SMART
low complexity region	611	632	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC
low complexity region	707	739	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153972

Predicted Effect

probably benign
Transcript: ENSMUST00000156339

SMART Domains

Protein: ENSMUSP00000115064
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
Pfam:RGS	1	30	1.3e-7	PFAM
low complexity region	48	64	N/A	INTRINSIC
low complexity region	67	79	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175356

Predicted Effect

probably benign
Transcript: ENSMUST00000225237

Predicted Effect

probably benign
Transcript: ENSMUST00000156819

SMART Domains

Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
RBD	21	91	3.12e-28	SMART
RBD	93	163	2.44e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201936

Meta Mutation Damage Score

0.9669

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Acaa1a	T	A	9: 119,348,940	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,021,391	C156R	probably damaging	Het
Als2cr12	A	T	1: 58,661,442	D301E	probably benign	Het
Arhgap11a	G	A	2: 113,834,078	T620M	probably benign	Het
Brinp1	A	G	4: 68,762,961	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,355,754	I760V	probably benign	Het
Cdh26	G	A	2: 178,460,642		probably benign	Het
Cpd	A	G	11: 76,840,615	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,254,018	Y670H	probably damaging	Het
Disp2	G	A	2: 118,790,162	M458I	probably benign	Het
Dot1l	T	C	10: 80,785,084	I563T	probably damaging	Het
Egf	A	T	3: 129,690,793	S1001T	probably benign	Het
Elfn1	A	G	5: 139,972,009	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,862,204	T725I	probably benign	Het
Fam168b	A	G	1: 34,819,982	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,217,563	S443N	probably damaging	Het
Flrt2	T	C	12: 95,780,229	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,495,981	S58P	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8906	T	C	5: 11,503,831	S7P	probably benign	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Kdelc1	A	C	1: 44,110,020	F453V	probably damaging	Het
Lpcat2b	T	C	5: 107,433,999	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 24,904,787	P587L	probably damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrpl38	T	C	11: 116,132,452	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,046	E430G	probably damaging	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,325,885	R31G	probably benign	Het
Olfr275	A	T	4: 52,825,399	M1L	probably benign	Het
Pcdh1	C	A	18: 38,197,860	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,738,500	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,769,842	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Ptprn	T	A	1: 75,252,287	D828V	possibly damaging	Het
Rnf10	T	A	5: 115,248,703	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec24b	A	T	3: 130,040,764	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,912,020	N100S	probably benign	Het
Stam2	A	T	2: 52,715,704	D167E	probably benign	Het
Stambp	G	A	6: 83,561,978	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,170,904	V556A	possibly damaging	Het
Tll2	T	C	19: 41,098,636	D592G	probably benign	Het
Tmem199	A	T	11: 78,509,682		probably benign	Het
Traip	T	A	9: 107,970,019	N352K	probably benign	Het
Trmt1l	C	T	1: 151,454,048	Q581*	probably null	Het
Usp54	C	A	14: 20,550,338	A1444S	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Xdh	G	A	17: 73,918,394	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,497,676	D83G	probably damaging	Het
Zfp352	A	G	4: 90,225,081	K486R	probably benign	Het
Zfp451	A	G	1: 33,802,671		probably benign	Het
Zfp963	A	T	8: 69,743,294	S170T	probably benign	Het
Zfp970	A	G	2: 177,476,168	I512V	probably benign	Het
Zfp990	A	G	4: 145,537,046	I205V	possibly damaging	Het

Other mutations in Rgs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rgs12	APN	5	34975219	missense	probably benign	0.25
IGL02296:Rgs12	APN	5	34966120	missense	probably damaging	0.96
IGL02337:Rgs12	APN	5	35020353	missense	probably damaging	1.00
IGL02483:Rgs12	APN	5	35030517	missense	probably damaging	1.00
IGL02869:Rgs12	APN	5	35025883	missense	probably damaging	0.97
IGL02989:Rgs12	APN	5	34965119	missense	probably damaging	1.00
R0015:Rgs12	UTSW	5	35022776	unclassified	probably benign
R0015:Rgs12	UTSW	5	35022776	unclassified	probably benign
R0046:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R0046:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R0106:Rgs12	UTSW	5	34966664	missense	probably benign	0.03
R0106:Rgs12	UTSW	5	34966664	missense	probably benign	0.03
R0233:Rgs12	UTSW	5	35030498	missense	probably damaging	1.00
R0233:Rgs12	UTSW	5	35030498	missense	probably damaging	1.00
R0245:Rgs12	UTSW	5	35030080	missense	probably benign	0.01
R0611:Rgs12	UTSW	5	35019460	missense	probably damaging	1.00
R0704:Rgs12	UTSW	5	35023122	missense	possibly damaging	0.95
R0723:Rgs12	UTSW	5	35024366	unclassified	probably benign
R1174:Rgs12	UTSW	5	34966465	missense	probably benign	0.00
R1538:Rgs12	UTSW	5	35021167	missense	probably damaging	0.98
R1556:Rgs12	UTSW	5	35039282	missense	possibly damaging	0.67
R1774:Rgs12	UTSW	5	34966403	missense	probably benign	0.34
R1791:Rgs12	UTSW	5	34966112	missense	possibly damaging	0.86
R1866:Rgs12	UTSW	5	34965674	missense	probably damaging	1.00
R1872:Rgs12	UTSW	5	34965821	missense	probably damaging	1.00
R1923:Rgs12	UTSW	5	35032269	missense	probably damaging	1.00
R2012:Rgs12	UTSW	5	35030528	missense	probably benign	0.00
R2107:Rgs12	UTSW	5	34966735	missense	possibly damaging	0.68
R3730:Rgs12	UTSW	5	35032251	missense	probably damaging	1.00
R3731:Rgs12	UTSW	5	35032251	missense	probably damaging	1.00
R3808:Rgs12	UTSW	5	35032354	missense	probably damaging	1.00
R3826:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3827:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3829:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3830:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R4392:Rgs12	UTSW	5	35032311	missense	probably damaging	1.00
R5132:Rgs12	UTSW	5	34989812	intron	probably benign
R5213:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R5296:Rgs12	UTSW	5	35021104	unclassified	probably benign
R5480:Rgs12	UTSW	5	34966111	missense	probably benign	0.09
R5510:Rgs12	UTSW	5	34966039	missense	probably damaging	1.00
R5708:Rgs12	UTSW	5	34966352	missense	probably benign	0.41
R5987:Rgs12	UTSW	5	35020345	missense	probably damaging	1.00
R6053:Rgs12	UTSW	5	34965952	missense	probably benign	0.01
R6113:Rgs12	UTSW	5	35020323	missense	probably damaging	0.99
R6401:Rgs12	UTSW	5	35020332	missense	probably damaging	1.00
R6736:Rgs12	UTSW	5	35023092	missense	probably damaging	1.00
R6807:Rgs12	UTSW	5	35023171	missense	probably null	0.27
R6857:Rgs12	UTSW	5	35030022	nonsense	probably null
R7082:Rgs12	UTSW	5	34966706	missense	probably benign	0.00
R7250:Rgs12	UTSW	5	34965497	missense	probably damaging	1.00
R7276:Rgs12	UTSW	5	35026371	missense	probably benign	0.06
R7444:Rgs12	UTSW	5	35025943	missense	possibly damaging	0.65
R7632:Rgs12	UTSW	5	34965590	missense	probably damaging	1.00
R8049:Rgs12	UTSW	5	35026030	missense	possibly damaging	0.89
R8089:Rgs12	UTSW	5	35020348	missense	probably damaging	1.00
R8241:Rgs12	UTSW	5	34965773	missense	probably damaging	1.00
R8797:Rgs12	UTSW	5	35029571	missense
R8927:Rgs12	UTSW	5	34966289	missense	possibly damaging	0.93
R8928:Rgs12	UTSW	5	34966289	missense	possibly damaging	0.93
R9073:Rgs12	UTSW	5	35020409	unclassified	probably benign
R9211:Rgs12	UTSW	5	34965821	missense	probably damaging	0.98
R9485:Rgs12	UTSW	5	35032270	missense	probably damaging	0.99
R9550:Rgs12	UTSW	5	35039321	missense	probably damaging	0.99
Z1176:Rgs12	UTSW	5	34965769	missense	probably damaging	1.00
Z1177:Rgs12	UTSW	5	34964854	start gained	probably benign
Z1177:Rgs12	UTSW	5	35026352	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CCCTTGAGAAAAGAGCTGTGAG -3'
(R):5'- TGAAGCAGAAATGTCACCGTTC -3'

Sequencing Primer
(F):5'- CCACTCACGTGTGCTGC -3'
(R):5'- CTTTAAAGTCAGTAAGAAGCATCCC -3'

Posted On

2015-10-08