Mutagenetix > Incidental Mutations

Incidental Mutation 'R0233:Rgs12'

58877

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

1200016K18Rik, 4632412M04Rik

MMRRC Submission

038474-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R0233 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

34949445-35039644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35030498 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 500 (S500T)

Ref Sequence

ENSEMBL: ENSMUSP00000109924 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030984
AA Change: S1148T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: S1148T

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: S1148T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: S1148T

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 benign
Transcript: ENSMUST00000114280

SMART Domains

Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101

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

possibly damaging
Transcript: ENSMUST00000114281
AA Change: S490T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: S490T

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

possibly damaging
Transcript: ENSMUST00000114283
AA Change: S490T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: S490T

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: ENSMUST00000114284
AA Change: S500T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: S500T

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: S500T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: S500T

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

probably benign
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: ENSMUST00000155162

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202914

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,373	S212P	probably benign	Het
4932438A13Rik	T	A	3: 36,948,563	C1552*	probably null	Het
A730018C14Rik	A	C	12: 112,415,430		noncoding transcript	Het
Acsf3	A	G	8: 122,780,292	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,513,569		probably benign	Het
Adad1	T	A	3: 37,084,948	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,601,560	L95P	probably damaging	Het
Ano5	T	C	7: 51,535,470	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,915,973	N114S	probably damaging	Het
Arap1	C	T	7: 101,400,241	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,746,067	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,170,911		probably benign	Het
Cacna2d2	A	T	9: 107,514,670	I463F	probably damaging	Het
Casp6	T	A	3: 129,905,975	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,105,876	F752I	probably benign	Het
Cdhr4	A	G	9: 107,996,934	I76V	probably benign	Het
Copa	T	C	1: 172,087,667		probably null	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
Cuzd1	C	A	7: 131,311,816	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,070	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,582,550	K263N	probably benign	Het
Dync1h1	T	A	12: 110,640,980	D2668E	probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam124b	T	C	1: 80,212,986	S227G	probably damaging	Het
Fam13b	T	A	18: 34,448,084	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,615,297	M4L	probably benign	Het
Flg2	T	A	3: 93,201,797	C377*	probably null	Het
Foxp2	T	C	6: 15,409,753	S451P	probably damaging	Het
Gli2	A	T	1: 118,835,925	S1499T	probably damaging	Het
Gm13078	A	T	4: 143,726,063	E21D	possibly damaging	Het
Gm8909	A	G	17: 36,167,469	Y224H	probably benign	Het
Gm9920	A	T	15: 55,112,461		probably benign	Het
Gpx5	T	A	13: 21,287,403	D210V	probably damaging	Het
Hoxb5	T	A	11: 96,305,027	S234T	probably benign	Het
Irf9	C	A	14: 55,606,094	N140K	probably benign	Het
Isg20	C	T	7: 78,914,495	T50M	probably damaging	Het
Isg20	C	A	7: 78,916,586	D94E	probably damaging	Het
Izumo1	T	C	7: 45,624,168	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,809,420	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,604,634		probably benign	Het
Kifc3	A	G	8: 95,101,472		probably null	Het
Kpna2	T	C	11: 106,992,631	S111G	probably benign	Het
Krt73	A	T	15: 101,802,016	N94K	probably benign	Het
Lgmn	G	T	12: 102,399,989	D247E	probably damaging	Het
Lilra6	C	T	7: 3,914,936	V70I	possibly damaging	Het
Lrig3	G	A	10: 126,013,526		probably null	Het
Lrrc4	T	C	6: 28,829,735	H627R	probably benign	Het
Macf1	G	A	4: 123,450,127		probably benign	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nutm2	A	G	13: 50,467,405	D2G	probably benign	Het
Olfr1151	A	G	2: 87,857,752	I192M	probably benign	Het
Olfr1404	A	T	1: 173,216,301	I217F	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Parl	G	A	16: 20,287,907	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,300,379	M863K	probably damaging	Het
Phlda3	T	C	1: 135,766,821	S125P	probably damaging	Het
Pkd1l3	A	T	8: 109,650,780	R217*	probably null	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Prg4	T	C	1: 150,453,547		probably benign	Het
Prkab1	A	G	5: 116,021,652		probably benign	Het
Pyroxd1	A	G	6: 142,354,630	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,582,921		probably null	Het
Ripor3	T	C	2: 167,992,598	D299G	probably damaging	Het
Robo4	T	C	9: 37,402,681	L76P	probably damaging	Het
Sbno1	T	C	5: 124,376,226	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,823,908	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,980,470	M389L	probably benign	Het
Sfswap	C	A	5: 129,554,543	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slitrk3	C	T	3: 73,048,577	S954N	probably benign	Het
Sorbs2	A	G	8: 45,769,829	T190A	probably damaging	Het
Sos2	A	T	12: 69,617,330	I460N	probably benign	Het
Spink7	T	A	18: 62,594,352	I34L	probably benign	Het
Srbd1	A	G	17: 86,057,745	S628P	probably damaging	Het
Srm	G	A	4: 148,593,372	G156S	probably damaging	Het
Sulf2	T	C	2: 166,085,669		probably benign	Het
Tmc4	T	A	7: 3,666,867	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,360,651	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,337,100		probably benign	Het
Tnxb	T	C	17: 34,699,033	F2307L	probably benign	Het
Tsr3	A	G	17: 25,242,510	E274G	probably benign	Het
Ttn	T	C	2: 76,895,144		probably benign	Het
Tub	T	C	7: 109,029,341	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,075,342	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,475,001	N36S	probably damaging	Het
Usp13	T	A	3: 32,915,664		probably null	Het
Vmn1r52	T	G	6: 90,179,611	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,054,102	S179T	probably benign	Het
Vwf	A	T	6: 125,686,510	R2805W	possibly damaging	Het
Wdr7	A	G	18: 63,904,101	T1199A	probably benign	Het
Zfp286	T	C	11: 62,780,393	T285A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCCAGAAACCACTTGGCTATG -3'
(R):5'- TGCAACAAGGACCAGGCTATGAC -3'

Sequencing Primer
(F):5'- GAAACCACTTGGCTATGGTAATTCC -3'
(R):5'- AGCAGGTTTAAGGACTGTACTG -3'

Posted On

2013-07-11