Mutagenetix > Incidental Mutation

Incidental Mutation 'R2017:Rasgrp2'

223310

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp2

Ensembl Gene

ENSMUSG00000032946

Gene Name

RAS, guanyl releasing protein 2

Synonyms

Caldaggef1, CalDAG-GEFI

MMRRC Submission

040026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2017 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

6449370-6465246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6463195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 498 (V498A)

Ref Sequence

ENSEMBL: ENSMUSP00000129873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000113476] [ENSMUST00000127021] [ENSMUST00000167240]

AlphaFold

Q9QUG9

Predicted Effect

probably benign
Transcript: ENSMUST00000035716
AA Change: V498A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: V498A

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113476
AA Change: V498A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: V498A

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124118

Predicted Effect

probably benign
Transcript: ENSMUST00000127021

SMART Domains

Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	24	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149205

Predicted Effect

probably benign
Transcript: ENSMUST00000167240
AA Change: V498A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: V498A

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
RasGEF	150	388	1.08e-100	SMART
EFh	430	458	8.25e-3	SMART
EFh	459	487	1.42e1	SMART
C1	499	548	3.22e-14	SMART
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152022

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abcc1	T	A	16: 14,279,068 (GRCm39)	V1126E	probably damaging	Het
Abcc12	A	G	8: 87,290,617 (GRCm39)	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,553,169 (GRCm39)	T643A	probably benign	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Apool	T	A	X: 111,274,258 (GRCm39)	S234T	probably benign	Het
Ascc3	C	T	10: 50,566,307 (GRCm39)	P751S	probably benign	Het
Astn2	G	A	4: 65,459,178 (GRCm39)	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcas1	A	C	2: 170,190,081 (GRCm39)		probably null	Het
Btk	T	C	X: 133,448,350 (GRCm39)	D355G	probably benign	Het
C2cd4c	A	G	10: 79,448,823 (GRCm39)	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Cd22	A	T	7: 30,572,205 (GRCm39)	L423Q	probably damaging	Het
Cep128	T	C	12: 91,333,238 (GRCm39)	D9G	probably damaging	Het
Cer1	A	T	4: 82,801,120 (GRCm39)	V181D	probably damaging	Het
Ciita	T	C	16: 10,329,540 (GRCm39)	L584P	probably damaging	Het
Cmss1	T	C	16: 57,136,641 (GRCm39)	D77G	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Cyria	T	A	12: 12,412,362 (GRCm39)	V208D	probably damaging	Het
Dcaf1	A	G	9: 106,725,122 (GRCm39)	E536G	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,399,253 (GRCm39)	V119A	possibly damaging	Het
Edn3	A	G	2: 174,620,455 (GRCm39)	E103G	probably benign	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Epx	T	C	11: 87,765,163 (GRCm39)	D178G	probably damaging	Het
Fkbp10	G	A	11: 100,312,499 (GRCm39)	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Gla	C	T	X: 133,497,071 (GRCm39)	A39T	probably damaging	Het
Hivep2	C	T	10: 14,006,501 (GRCm39)	T1033M	probably damaging	Het
Hsd17b8	A	T	17: 34,245,187 (GRCm39)	M259K	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Ikzf4	C	T	10: 128,470,026 (GRCm39)	G498D	probably damaging	Het
Impg1	T	C	9: 80,322,720 (GRCm39)	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,244,810 (GRCm39)	K136*	probably null	Het
Iqsec1	A	C	6: 90,666,912 (GRCm39)	H508Q	probably benign	Het
Itgb3	A	G	11: 104,528,788 (GRCm39)	H305R	possibly damaging	Het
Jup	T	A	11: 100,277,167 (GRCm39)	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	T	C	14: 100,260,073 (GRCm39)	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,009,291 (GRCm39)	V377L	probably benign	Het
Large1	A	G	8: 73,578,825 (GRCm39)	F460S	probably damaging	Het
Loxl3	A	T	6: 83,025,958 (GRCm39)	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,391,951 (GRCm39)	Y1158F	probably benign	Het
Map2	T	A	1: 66,451,958 (GRCm39)	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Med26	A	G	8: 73,250,791 (GRCm39)	S103P	probably damaging	Het
Muc4	T	C	16: 32,570,121 (GRCm39)	S394P	possibly damaging	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Obox5	T	C	7: 15,492,807 (GRCm39)	I254T	probably benign	Het
Or1p1c	T	A	11: 74,161,159 (GRCm39)	W315R	probably benign	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or52j3	T	C	7: 102,836,137 (GRCm39)	F110L	probably benign	Het
Or7c19	T	C	8: 85,957,373 (GRCm39)	L83P	possibly damaging	Het
Pacs2	A	T	12: 113,026,077 (GRCm39)	N545Y	probably damaging	Het
Palld	T	C	8: 62,137,799 (GRCm39)	E652G	probably damaging	Het
Pgm5	T	C	19: 24,801,676 (GRCm39)	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Pramel13	A	G	4: 144,121,244 (GRCm39)	V260A	possibly damaging	Het
Prr36	T	A	8: 4,265,205 (GRCm39)	T182S	probably benign	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Ptprm	G	T	17: 67,264,148 (GRCm39)		probably null	Het
Rfx6	A	G	10: 51,597,700 (GRCm39)	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,160,471 (GRCm39)	I693T	probably damaging	Het
Scn9a	T	C	2: 66,345,665 (GRCm39)	T1143A	probably damaging	Het
Spata17	A	G	1: 186,780,650 (GRCm39)	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568 (GRCm39)	L2406P	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tgfb2	A	T	1: 186,362,962 (GRCm39)	Y287*	probably null	Het
Trip11	A	T	12: 101,851,619 (GRCm39)	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,276,580 (GRCm39)	V854L	probably benign	Het
Vmn1r78	T	C	7: 11,887,270 (GRCm39)	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,282,582 (GRCm39)	K678R	probably benign	Het
Yeats2	T	A	16: 19,977,931 (GRCm39)	N138K	probably benign	Het
Zup1	A	T	10: 33,803,460 (GRCm39)	N541K	possibly damaging	Het

Other mutations in Rasgrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Rasgrp2	APN	19	6,454,413 (GRCm39)	missense	probably damaging	1.00
IGL03053:Rasgrp2	APN	19	6,457,362 (GRCm39)	splice site	probably benign
afar	UTSW	19	6,453,595 (GRCm39)	critical splice donor site	probably null
thither	UTSW	19	6,454,757 (GRCm39)	missense	probably damaging	1.00
R1593:Rasgrp2	UTSW	19	6,453,490 (GRCm39)	missense	possibly damaging	0.77
R1604:Rasgrp2	UTSW	19	6,457,087 (GRCm39)	missense	possibly damaging	0.62
R2016:Rasgrp2	UTSW	19	6,463,195 (GRCm39)	missense	probably benign	0.01
R2119:Rasgrp2	UTSW	19	6,454,425 (GRCm39)	missense	probably benign	0.00
R2120:Rasgrp2	UTSW	19	6,454,425 (GRCm39)	missense	probably benign	0.00
R2122:Rasgrp2	UTSW	19	6,454,425 (GRCm39)	missense	probably benign	0.00
R2124:Rasgrp2	UTSW	19	6,454,425 (GRCm39)	missense	probably benign	0.00
R3879:Rasgrp2	UTSW	19	6,463,920 (GRCm39)	missense	probably benign	0.07
R4049:Rasgrp2	UTSW	19	6,454,757 (GRCm39)	missense	probably damaging	1.00
R4655:Rasgrp2	UTSW	19	6,454,876 (GRCm39)	intron	probably benign
R5250:Rasgrp2	UTSW	19	6,454,343 (GRCm39)	missense	probably damaging	1.00
R5320:Rasgrp2	UTSW	19	6,458,864 (GRCm39)	splice site	probably null
R5620:Rasgrp2	UTSW	19	6,455,031 (GRCm39)	missense	probably damaging	1.00
R5933:Rasgrp2	UTSW	19	6,452,543 (GRCm39)	missense	probably damaging	1.00
R6155:Rasgrp2	UTSW	19	6,452,531 (GRCm39)	missense	probably damaging	1.00
R6157:Rasgrp2	UTSW	19	6,452,531 (GRCm39)	missense	probably damaging	1.00
R6867:Rasgrp2	UTSW	19	6,463,213 (GRCm39)	missense	probably benign	0.00
R7237:Rasgrp2	UTSW	19	6,454,838 (GRCm39)	missense	possibly damaging	0.79
R7575:Rasgrp2	UTSW	19	6,454,397 (GRCm39)	missense	probably damaging	0.99
R7659:Rasgrp2	UTSW	19	6,451,857 (GRCm39)	missense	probably damaging	0.98
R7744:Rasgrp2	UTSW	19	6,455,031 (GRCm39)	missense	probably damaging	1.00
R7960:Rasgrp2	UTSW	19	6,464,839 (GRCm39)	missense	probably benign
R7975:Rasgrp2	UTSW	19	6,458,589 (GRCm39)	missense	probably damaging	1.00
R8415:Rasgrp2	UTSW	19	6,454,781 (GRCm39)	missense	probably damaging	1.00
R8470:Rasgrp2	UTSW	19	6,453,595 (GRCm39)	critical splice donor site	probably null
R8745:Rasgrp2	UTSW	19	6,463,949 (GRCm39)	missense	probably damaging	1.00
R8853:Rasgrp2	UTSW	19	6,464,855 (GRCm39)	missense	probably damaging	0.98
R8897:Rasgrp2	UTSW	19	6,453,100 (GRCm39)	missense	probably benign	0.15
R9108:Rasgrp2	UTSW	19	6,458,890 (GRCm39)	missense	probably damaging	1.00
R9127:Rasgrp2	UTSW	19	6,454,438 (GRCm39)	missense	possibly damaging	0.91
R9725:Rasgrp2	UTSW	19	6,463,907 (GRCm39)	missense	probably benign	0.07
R9725:Rasgrp2	UTSW	19	6,454,694 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGGAAGGTCCAAAGTCATG -3'
(R):5'- GAGTTCTACATGTTCCGCGG -3'

Sequencing Primer
(F):5'- TCCAAAGTCATGAGCTGGGTG -3'
(R):5'- CTACATGTTCCGCGGGTTGG -3'

Posted On

2014-08-25