Mutagenetix > Incidental Mutation

Incidental Mutation 'R3830:Rgs12'

273939

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

4632412M04Rik, 1200016K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R3830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35106789-35196988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35123359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 381 (V381M)

Ref Sequence

ENSEMBL: ENSMUSP00000084970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684]

AlphaFold

Q8CGE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030984
AA Change: V381M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: V381M

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

possibly damaging
Transcript: ENSMUST00000087684
AA Change: V381M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: V381M

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

noncoding transcript
Transcript: ENSMUST00000128161

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat5	A	G	8: 18,929,621 (GRCm39)	E250G	probably benign	Het
Aox4	A	T	1: 58,294,670 (GRCm39)	T960S	probably damaging	Het
Bach2	T	A	4: 32,563,150 (GRCm39)	L539H	probably damaging	Het
Capn1	A	T	19: 6,044,877 (GRCm39)	L465Q	probably damaging	Het
Cd300c	A	G	11: 114,850,453 (GRCm39)	F117L	probably benign	Het
Cep104	T	G	4: 154,069,400 (GRCm39)	M207R	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cspg4	T	G	9: 56,804,905 (GRCm39)	D1905E	probably damaging	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Drd2	T	A	9: 49,313,443 (GRCm39)	V204D	probably damaging	Het
Gclc	A	T	9: 77,699,242 (GRCm39)	I520L	probably benign	Het
Gpat3	A	G	5: 101,032,252 (GRCm39)	D183G	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gprin3	T	C	6: 59,330,618 (GRCm39)	E563G	probably benign	Het
Grm8	A	T	6: 27,761,228 (GRCm39)	L332*	probably null	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hecw1	C	T	13: 14,520,643 (GRCm39)	S198N	probably benign	Het
Kcna2	T	C	3: 107,012,112 (GRCm39)	I231T	probably benign	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or2b11	G	T	11: 59,462,427 (GRCm39)	N46K	probably damaging	Het
Pigb	T	C	9: 72,924,755 (GRCm39)	N468S	probably benign	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Plekhg1	A	G	10: 3,823,400 (GRCm39)	T123A	probably damaging	Het
Ptges3l	T	C	11: 101,312,443 (GRCm39)	*67W	probably null	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Six2	G	T	17: 85,992,615 (GRCm39)	S296Y	probably damaging	Het
Slc5a12	T	A	2: 110,463,081 (GRCm39)	C392*	probably null	Het
Snx5	A	T	2: 144,096,821 (GRCm39)		probably null	Het
Svep1	A	G	4: 58,096,177 (GRCm39)	L1481P	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp729a	A	T	13: 67,767,997 (GRCm39)	F744Y	probably damaging	Het

Other mutations in Rgs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rgs12	APN	5	35,132,563 (GRCm39)	missense	probably benign	0.25
IGL02296:Rgs12	APN	5	35,123,464 (GRCm39)	missense	probably damaging	0.96
IGL02337:Rgs12	APN	5	35,177,697 (GRCm39)	missense	probably damaging	1.00
IGL02483:Rgs12	APN	5	35,187,861 (GRCm39)	missense	probably damaging	1.00
IGL02869:Rgs12	APN	5	35,183,227 (GRCm39)	missense	probably damaging	0.97
IGL02989:Rgs12	APN	5	35,122,463 (GRCm39)	missense	probably damaging	1.00
R0015:Rgs12	UTSW	5	35,180,120 (GRCm39)	unclassified	probably benign
R0015:Rgs12	UTSW	5	35,180,120 (GRCm39)	unclassified	probably benign
R0046:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R0046:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R0106:Rgs12	UTSW	5	35,124,008 (GRCm39)	missense	probably benign	0.03
R0106:Rgs12	UTSW	5	35,124,008 (GRCm39)	missense	probably benign	0.03
R0233:Rgs12	UTSW	5	35,187,842 (GRCm39)	missense	probably damaging	1.00
R0233:Rgs12	UTSW	5	35,187,842 (GRCm39)	missense	probably damaging	1.00
R0245:Rgs12	UTSW	5	35,187,424 (GRCm39)	missense	probably benign	0.01
R0611:Rgs12	UTSW	5	35,176,804 (GRCm39)	missense	probably damaging	1.00
R0704:Rgs12	UTSW	5	35,180,466 (GRCm39)	missense	possibly damaging	0.95
R0723:Rgs12	UTSW	5	35,181,710 (GRCm39)	unclassified	probably benign
R1174:Rgs12	UTSW	5	35,123,809 (GRCm39)	missense	probably benign	0.00
R1538:Rgs12	UTSW	5	35,178,511 (GRCm39)	missense	probably damaging	0.98
R1556:Rgs12	UTSW	5	35,196,626 (GRCm39)	missense	possibly damaging	0.67
R1774:Rgs12	UTSW	5	35,123,747 (GRCm39)	missense	probably benign	0.34
R1791:Rgs12	UTSW	5	35,123,456 (GRCm39)	missense	possibly damaging	0.86
R1866:Rgs12	UTSW	5	35,123,018 (GRCm39)	missense	probably damaging	1.00
R1872:Rgs12	UTSW	5	35,123,165 (GRCm39)	missense	probably damaging	1.00
R1923:Rgs12	UTSW	5	35,189,613 (GRCm39)	missense	probably damaging	1.00
R2012:Rgs12	UTSW	5	35,187,872 (GRCm39)	missense	probably benign	0.00
R2107:Rgs12	UTSW	5	35,124,079 (GRCm39)	missense	possibly damaging	0.68
R3730:Rgs12	UTSW	5	35,189,595 (GRCm39)	missense	probably damaging	1.00
R3731:Rgs12	UTSW	5	35,189,595 (GRCm39)	missense	probably damaging	1.00
R3808:Rgs12	UTSW	5	35,189,698 (GRCm39)	missense	probably damaging	1.00
R3826:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3827:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3829:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R4392:Rgs12	UTSW	5	35,189,655 (GRCm39)	missense	probably damaging	1.00
R4617:Rgs12	UTSW	5	35,177,700 (GRCm39)	missense	probably damaging	1.00
R5132:Rgs12	UTSW	5	35,147,156 (GRCm39)	intron	probably benign
R5213:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R5296:Rgs12	UTSW	5	35,178,448 (GRCm39)	unclassified	probably benign
R5480:Rgs12	UTSW	5	35,123,455 (GRCm39)	missense	probably benign	0.09
R5510:Rgs12	UTSW	5	35,123,383 (GRCm39)	missense	probably damaging	1.00
R5708:Rgs12	UTSW	5	35,123,696 (GRCm39)	missense	probably benign	0.41
R5987:Rgs12	UTSW	5	35,177,689 (GRCm39)	missense	probably damaging	1.00
R6053:Rgs12	UTSW	5	35,123,296 (GRCm39)	missense	probably benign	0.01
R6113:Rgs12	UTSW	5	35,177,667 (GRCm39)	missense	probably damaging	0.99
R6401:Rgs12	UTSW	5	35,177,676 (GRCm39)	missense	probably damaging	1.00
R6736:Rgs12	UTSW	5	35,180,436 (GRCm39)	missense	probably damaging	1.00
R6807:Rgs12	UTSW	5	35,180,515 (GRCm39)	missense	probably null	0.27
R6857:Rgs12	UTSW	5	35,187,366 (GRCm39)	nonsense	probably null
R7082:Rgs12	UTSW	5	35,124,050 (GRCm39)	missense	probably benign	0.00
R7250:Rgs12	UTSW	5	35,122,841 (GRCm39)	missense	probably damaging	1.00
R7276:Rgs12	UTSW	5	35,183,715 (GRCm39)	missense	probably benign	0.06
R7444:Rgs12	UTSW	5	35,183,287 (GRCm39)	missense	possibly damaging	0.65
R7632:Rgs12	UTSW	5	35,122,934 (GRCm39)	missense	probably damaging	1.00
R8049:Rgs12	UTSW	5	35,183,374 (GRCm39)	missense	possibly damaging	0.89
R8089:Rgs12	UTSW	5	35,177,692 (GRCm39)	missense	probably damaging	1.00
R8241:Rgs12	UTSW	5	35,123,117 (GRCm39)	missense	probably damaging	1.00
R8797:Rgs12	UTSW	5	35,186,915 (GRCm39)	missense
R8927:Rgs12	UTSW	5	35,123,633 (GRCm39)	missense	possibly damaging	0.93
R8928:Rgs12	UTSW	5	35,123,633 (GRCm39)	missense	possibly damaging	0.93
R9073:Rgs12	UTSW	5	35,177,753 (GRCm39)	unclassified	probably benign
R9211:Rgs12	UTSW	5	35,123,165 (GRCm39)	missense	probably damaging	0.98
R9485:Rgs12	UTSW	5	35,189,614 (GRCm39)	missense	probably damaging	0.99
R9550:Rgs12	UTSW	5	35,196,665 (GRCm39)	missense	probably damaging	0.99
Z1176:Rgs12	UTSW	5	35,123,113 (GRCm39)	missense	probably damaging	1.00
Z1177:Rgs12	UTSW	5	35,183,696 (GRCm39)	missense	probably benign	0.44
Z1177:Rgs12	UTSW	5	35,122,198 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CGAGAAGCTGGCATTCAGTG -3'
(R):5'- AACTACAAGCACCCTGTTGCTC -3'

Sequencing Primer
(F):5'- ATTCAGTGCAGTGTGCCC -3'
(R):5'- GCTCTTCTCTTCCTGGTTGAAATTG -3'

Posted On

2015-04-02