Mutagenetix > Incidental Mutation

Incidental Mutation 'R3827:Rgs12'

273798

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

4632412M04Rik, 1200016K18Rik

MMRRC Submission

040775-MU

Accession Numbers

Essential gene?

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

Stock #

R3827 (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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,110,467 (GRCm39)	N878S	probably benign	Het
Bach2	T	A	4: 32,563,150 (GRCm39)	L539H	probably damaging	Het
Cntnap5a	G	A	1: 116,045,409 (GRCm39)	D342N	probably benign	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dpp10	G	A	1: 123,339,519 (GRCm39)	T336I	possibly damaging	Het
Ehmt2	T	C	17: 35,125,741 (GRCm39)	S625P	possibly damaging	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gab2	T	A	7: 96,872,948 (GRCm39)	I117N	probably damaging	Het
Gm17521	C	A	X: 121,938,922 (GRCm39)	G149C	unknown	Het
Gper1	T	C	5: 139,412,755 (GRCm39)	S367P	probably benign	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
H2-Q6	A	T	17: 35,644,655 (GRCm39)	N148I	probably damaging	Het
Kif21b	T	C	1: 136,090,732 (GRCm39)		probably null	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or52e19	T	A	7: 102,959,009 (GRCm39)	I27N	probably benign	Het
Paip1	T	A	13: 119,566,768 (GRCm39)	M1K	probably null	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Skint6	G	T	4: 112,794,634 (GRCm39)	L712I	probably benign	Het
Slc35a4	C	A	18: 36,816,041 (GRCm39)	N290K	probably damaging	Het
Slco1a5	T	A	6: 142,198,975 (GRCm39)	D230V	probably damaging	Het
Sox21	C	T	14: 118,472,870 (GRCm39)	E60K	possibly damaging	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Sulf1	G	A	1: 12,887,656 (GRCm39)	V277I	probably benign	Het
Svep1	A	G	4: 58,096,177 (GRCm39)	L1481P	probably damaging	Het
Syne2	A	G	12: 76,033,805 (GRCm39)	R3685G	probably benign	Het
Tmem203	T	A	2: 25,146,018 (GRCm39)	W113R	possibly damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Vmn2r102	T	A	17: 19,914,787 (GRCm39)	V784E	probably damaging	Het
Wrn	T	C	8: 33,814,548 (GRCm39)	T56A	probably benign	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	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
R3829:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3830: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'- ACTACAAGCACCCTGTTGCTC -3'

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

Posted On

2015-04-02