Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Rgs12'

170259

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

1200016K18Rik, 4632412M04Rik

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34949445-35039644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35039282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 769 (R769G)

Ref Sequence

ENSEMBL: ENSMUSP00000109924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030985] [ENSMUST00000087684] [ENSMUST00000114283] [ENSMUST00000114285] [ENSMUST00000202573]

AlphaFold

Q8CGE9

Predicted Effect

probably benign
Transcript: ENSMUST00000030985

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC
FN2	98	145	7.31e-27	SMART
EGF	160	195	2.11e-4	SMART
Pfam:fn1	199	234	7.7e-11	PFAM
EGF	241	276	1.69e-3	SMART
KR	281	366	5.2e-36	SMART
Tryp_SPc	405	639	2.07e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087684
AA Change: R1417G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: R1417G

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

possibly damaging
Transcript: ENSMUST00000114283
AA Change: R759G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: R759G

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

possibly damaging
Transcript: ENSMUST00000114285
AA Change: R769G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: R769G

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

silent
Transcript: ENSMUST00000150139

SMART Domains

Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
Blast:RBD	2	33	5e-13	BLAST
Pfam:RGS12_us2	35	80	5.8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202126

Predicted Effect

probably benign
Transcript: ENSMUST00000202573

SMART Domains

Protein: ENSMUSP00000144344
Gene: ENSMUSG00000029102

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,449,633	S302P	probably damaging	Het
Anapc1	T	C	2: 128,624,899	T1626A	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arid5a	T	A	1: 36,320,164	Y520*	probably null	Het
Aven	G	A	2: 112,630,885	M215I	probably damaging	Het
Cabyr	A	G	18: 12,744,780	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,330,553	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,130,400	S269T	probably benign	Het
Cd68	T	A	11: 69,665,850	T44S	probably damaging	Het
Clstn2	A	T	9: 97,456,505	I867N	probably benign	Het
Cmss1	C	T	16: 57,316,197	R104H	probably benign	Het
Col6a6	A	G	9: 105,709,473	V1783A	possibly damaging	Het
Dach2	T	C	X: 113,298,517	S31P	probably benign	Het
Dpp8	T	A	9: 65,051,479	W279R	probably damaging	Het
Fras1	A	T	5: 96,743,062	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,461,400	D373N	probably benign	Het
Gdf7	T	C	12: 8,301,698	N79S	unknown	Het
Gpam	A	G	19: 55,076,331	V647A	possibly damaging	Het
Gpatch1	T	C	7: 35,295,351	T497A	probably benign	Het
Grin2a	A	T	16: 9,707,715	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,284,416	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 36,773,313	Y56H	probably damaging	Het
Kcnu1	G	A	8: 25,861,191		probably null	Het
Krt77	A	G	15: 101,861,278	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,682,002	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,217,813	T186A	probably benign	Het
Lins1	C	A	7: 66,710,637	C168*	probably null	Het
Lrrtm3	G	A	10: 64,088,149	T413M	probably damaging	Het
Macf1	T	C	4: 123,455,020	D4038G	probably damaging	Het
Mark3	T	G	12: 111,627,841	N308K	probably damaging	Het
Mdga2	T	A	12: 66,550,593	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,077,388	S330R	probably benign	Het
Olfr59	T	A	11: 74,288,936	C97S	probably damaging	Het
Olfr645	T	A	7: 104,084,261	H273L	probably benign	Het
Olfr726	G	A	14: 50,084,459	A74V	possibly damaging	Het
Olfr809	T	C	10: 129,776,373	V168A	probably benign	Het
Ovgp1	A	G	3: 105,986,752		probably benign	Het
P4ha2	A	G	11: 54,125,010	T408A	probably damaging	Het
Pcdh8	T	G	14: 79,770,403	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,612,085		probably null	Het
Pecr	T	A	1: 72,259,383	I293L	probably benign	Het
Pogk	A	G	1: 166,398,833	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,624,743	K371R	probably benign	Het
Psmd2	T	A	16: 20,655,585	M297K	possibly damaging	Het
Sgtb	T	A	13: 104,139,776	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,594,698	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,534,210		probably null	Het
Slc4a7	T	C	14: 14,778,872	V940A	probably benign	Het
Tep1	T	C	14: 50,853,042	T740A	probably benign	Het
Tnk2	G	T	16: 32,670,919		probably null	Het
Trpv2	A	G	11: 62,592,233	Y450C	probably damaging	Het
Tvp23a	A	T	16: 10,446,998	D16E	probably damaging	Het
Twnk	T	C	19: 45,009,411	F460L	possibly damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,030,617	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,930,711	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,086,681	N1141K	probably benign	Het
Yipf3	A	G	17: 46,250,867	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,686,991	V680A	probably benign	Het
Zcchc6	T	C	13: 59,800,240	T354A	probably benign	Het
Znrf3	T	C	11: 5,281,347	E722G	probably benign	Het
Zzef1	T	A	11: 72,915,233	L2665H	probably 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
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
R4617:Rgs12	UTSW	5	35020356	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'- CAAGCAGGTGACAGCTTCTCTTCTC -3'
(R):5'- ACAATGCAGTACATGGCAGGTCTTC -3'

Sequencing Primer
(F):5'- TCTCTTCTCCCCATGACAGG -3'
(R):5'- CTGCTATAGAGGTGTCTAACCCAG -3'

Posted On

2014-04-13