Mutagenetix > Incidental Mutation

Incidental Mutation 'R5250:Rasgrp2'

399000

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp2

Ensembl Gene

ENSMUSG00000032946

Gene Name

RAS, guanyl releasing protein 2

Synonyms

Caldaggef1, CalDAG-GEFI

MMRRC Submission

042821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6449370-6465246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6454343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 129 (W129R)

Ref Sequence

ENSEMBL: ENSMUSP00000129873 (fasta)

Gene Model

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

AlphaFold

Q9QUG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035716
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: W129R

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 damaging
Transcript: ENSMUST00000113476
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: W129R

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 damaging
Transcript: ENSMUST00000138555
AA Change: W129R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: W129R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146831
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: W129R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148906

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: 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: 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 damaging
Transcript: ENSMUST00000167240
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: W129R

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

probably benign
Transcript: ENSMUST00000150713

SMART Domains

Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946

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

Meta Mutation Damage Score

0.6837

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,135,182 (GRCm39)	K236*	probably null	Het
Adgre5	A	G	8: 84,460,069 (GRCm39)	V109A	probably benign	Het
Adora2a	T	C	10: 75,161,882 (GRCm39)	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335 (GRCm39)	V36A	probably damaging	Het
Arhgef2	T	C	3: 88,540,955 (GRCm39)		probably null	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg2b	G	A	12: 105,602,024 (GRCm39)	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 100,933,870 (GRCm39)	V553D	possibly damaging	Het
Bard1	G	A	1: 71,113,722 (GRCm39)	L420F	probably damaging	Het
Bcat1	C	G	6: 144,993,165 (GRCm39)		probably null	Het
Bpifb5	A	T	2: 154,066,881 (GRCm39)	N45Y	probably benign	Het
Btbd17	G	T	11: 114,682,234 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,010,819 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,456,305 (GRCm39)	N784D	possibly damaging	Het
Dhx38	A	T	8: 110,283,152 (GRCm39)	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,595,035 (GRCm39)	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,412,514 (GRCm39)	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,334,968 (GRCm39)	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Flt4	T	A	11: 49,521,227 (GRCm39)	I412N	possibly damaging	Het
Gabrb1	A	G	5: 72,026,922 (GRCm39)	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,277,230 (GRCm39)	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,574,650 (GRCm39)	Q99*	probably null	Het
Inpp5d	T	C	1: 87,637,397 (GRCm39)	V781A	probably damaging	Het
Larp4b	T	C	13: 9,221,013 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 91,043,618 (GRCm39)	S674R	possibly damaging	Het
Megf6	A	G	4: 154,340,467 (GRCm39)	T561A	possibly damaging	Het
Mpo	A	T	11: 87,694,259 (GRCm39)	Q83L	probably benign	Het
Mucl2	T	C	15: 103,927,733 (GRCm39)	N75D	possibly damaging	Het
Myh13	C	T	11: 67,218,085 (GRCm39)	Q53*	probably null	Het
Myot	T	A	18: 44,479,137 (GRCm39)	D291E	probably damaging	Het
Nae1	A	G	8: 105,257,023 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,294,913 (GRCm39)	S2R	probably damaging	Het
Nktr	T	A	9: 121,578,858 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,842,869 (GRCm39)		probably benign	Het
Or10aa3	T	G	1: 173,878,838 (GRCm39)	F300V	probably benign	Het
Or14j4	A	G	17: 37,920,851 (GRCm39)	S264P	probably damaging	Het
Or5an1b	T	C	19: 12,299,430 (GRCm39)	T254A	probably benign	Het
P2rx2	T	C	5: 110,489,454 (GRCm39)	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,890,990 (GRCm39)	D666V	probably damaging	Het
Pcm1	A	T	8: 41,765,242 (GRCm39)	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Potefam1	T	G	2: 111,058,422 (GRCm39)	T124P	possibly damaging	Het
Ppm1e	T	C	11: 87,121,744 (GRCm39)	I738V	probably benign	Het
Ppp1r13b	G	T	12: 111,811,394 (GRCm39)	R165S	probably benign	Het
Smurf2	A	G	11: 106,747,005 (GRCm39)		probably null	Het
Spmap1	C	A	11: 97,663,553 (GRCm39)	W99L	possibly damaging	Het
Ubr2	G	T	17: 47,241,368 (GRCm39)	Q1729K	probably benign	Het
Zfp260	T	A	7: 29,804,392 (GRCm39)	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,538,638 (GRCm39)	R269S	probably benign	Het
Zfp568	T	C	7: 29,716,655 (GRCm39)	V185A	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
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
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
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'- CCTCTCTTGCAGAGCAGAATTTG -3'
(R):5'- AGTCTTAGCCCTTCCTGGAATC -3'

Sequencing Primer
(F):5'- CACAGAGTACGTTGTCCATCAGTG -3'
(R):5'- TTCTCAGCCCACACTGCAC -3'

Posted On

2016-07-06