Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03053:Rasgrp2'

409159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgrp2

Ensembl Gene

ENSMUSG00000032946

Gene Name

RAS, guanyl releasing protein 2

Synonyms

Caldaggef1, CalDAG-GEFI

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

6449370-6465246 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 6457362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000127021] [ENSMUST00000113476] [ENSMUST00000146601] [ENSMUST00000146831] [ENSMUST00000138555] [ENSMUST00000139522] [ENSMUST00000167240] [ENSMUST00000150713]

AlphaFold

Q9QUG9

Predicted Effect

probably benign
Transcript: ENSMUST00000035716

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946

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: ENSMUST00000113467

SMART Domains

Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	24	9e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113468

SMART Domains

Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	97	1.93e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113469

SMART Domains

Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113471

SMART Domains

Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113472

SMART Domains

Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113475

SMART Domains

Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	7.2e-31	SMART

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

probably benign
Transcript: ENSMUST00000113476

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946

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: ENSMUST00000135532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130480

Predicted Effect

probably benign
Transcript: ENSMUST00000146601

SMART Domains

Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
Blast:RasGEFN	3	58	1e-35	BLAST
SCOP:d1bkds_	9	58	1e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146831

SMART Domains

Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138555

SMART Domains

Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	126	3.56e-29	SMART
Pfam:RasGEF	151	231	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139522

SMART Domains

Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	125	6.02e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167240

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149205

Predicted Effect

probably benign
Transcript: ENSMUST00000150713

SMART Domains

Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

Domain	Start	End	E-Value	Type
RasGEFN	3	95	6.73e-7	SMART

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,613,050 (GRCm39)	Q342*	probably null	Het
Arglu1	T	A	8: 8,733,960 (GRCm39)	I119L	probably benign	Het
Atp1a2	G	A	1: 172,105,923 (GRCm39)	T914I	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 156,050,921 (GRCm39)	N297Y	probably damaging	Het
Cgas	A	T	9: 78,344,719 (GRCm39)	F234Y	probably benign	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Dis3	A	G	14: 99,336,170 (GRCm39)	V112A	probably benign	Het
Ehd3	A	G	17: 74,112,437 (GRCm39)	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,108,691 (GRCm39)	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,650,126 (GRCm39)	V252G	probably benign	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Hnf1a	T	A	5: 115,108,792 (GRCm39)	M38L	probably benign	Het
Kif13a	T	C	13: 46,905,564 (GRCm39)	N793S	probably benign	Het
Kit	A	G	5: 75,771,574 (GRCm39)	N244D	probably benign	Het
Mgat5b	A	G	11: 116,814,276 (GRCm39)	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,469,723 (GRCm39)	H1098R	probably benign	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4c123	A	C	2: 89,126,789 (GRCm39)	I275S	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or6d15	T	C	6: 116,559,206 (GRCm39)	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,281,664 (GRCm39)	I42T	probably damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Rc3h1	T	A	1: 160,783,387 (GRCm39)	D734E	probably benign	Het
Rtel1	A	G	2: 180,993,737 (GRCm39)	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,168,597 (GRCm39)	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833 (GRCm39)	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,239,933 (GRCm39)	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,800,077 (GRCm39)	Y755C	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het
Zng1	T	A	19: 24,932,741 (GRCm39)	E97D	probably damaging	Het
Zzef1	G	T	11: 72,722,365 (GRCm39)		probably benign	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
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
R2017: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

Posted On

2016-08-02