Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Rgs12'

698852

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

4632412M04Rik, 1200016K18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35106789-35196988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35123165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 316 (M316K)

Ref Sequence

ENSEMBL: ENSMUSP00000030984 (fasta)

Gene Model

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

AlphaFold

Q8CGE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030984
AA Change: M316K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: M316K

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: M316K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: M316K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Anapc4	C	T	5: 53,007,994 (GRCm39)	T391I	possibly damaging	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bmi1	T	C	2: 18,689,152 (GRCm39)	S279P	probably benign	Het
Bptf	T	G	11: 106,946,124 (GRCm39)	S2372R	probably damaging	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Smurf2	T	A	11: 106,759,463 (GRCm39)	S78C	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Ugt8a	T	C	3: 125,661,130 (GRCm39)	H454R	probably damaging	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	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
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
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'- CCTGGAGCATGACAGTTTACAG -3'
(R):5'- GGGAAGATGCTGGGAATTCC -3'

Sequencing Primer
(F):5'- GCATGACAGTTTACAGGCTATCCG -3'
(R):5'- TGCTGGGAATTCCAAACAGC -3'

Posted On

2022-02-07