Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Rasgrp2'

650091

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp2

Ensembl Gene

ENSMUSG00000032946

Gene Name

RAS, guanyl releasing protein 2

Synonyms

Caldaggef1, CalDAG-GEFI

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6449370-6465246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6464839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 596 (V596L)

Ref Sequence

ENSEMBL: ENSMUSP00000041135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035716] [ENSMUST00000077182] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000113476] [ENSMUST00000127021] [ENSMUST00000167240]

AlphaFold

Q9QUG9

Predicted Effect

probably benign
Transcript: ENSMUST00000035716
AA Change: V596L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: V596L

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: ENSMUST00000077182

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	444	1.18e-33	SMART
LamG	498	651	1.51e-40	SMART
EGF	678	712	8.91e-3	SMART
LamG	737	875	4.91e-22	SMART
LamG	923	1059	1.08e-41	SMART
EGF	1084	1118	1.91e1	SMART
LamG	1146	1303	4.48e-16	SMART
low complexity region	1332	1362	N/A	INTRINSIC
low complexity region	1430	1445	N/A	INTRINSIC
4.1m	1448	1466	3.75e-4	SMART
low complexity region	1480	1499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113461

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
LamG	286	428	8.4e-30	SMART
LamG	482	635	1.51e-40	SMART
EGF	662	696	8.91e-3	SMART
LamG	721	850	2.36e-24	SMART
LamG	898	1034	1.08e-41	SMART
EGF	1059	1093	1.91e1	SMART
LamG	1121	1248	1.26e-19	SMART
low complexity region	1277	1307	N/A	INTRINSIC
low complexity region	1363	1384	N/A	INTRINSIC
low complexity region	1567	1582	N/A	INTRINSIC
4.1m	1585	1603	3.75e-4	SMART
low complexity region	1617	1636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113462

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	452	8.4e-30	SMART
LamG	506	659	1.51e-40	SMART
EGF	686	720	8.91e-3	SMART
LamG	745	883	4.91e-22	SMART
LamG	931	1067	1.08e-41	SMART
EGF	1092	1126	1.91e1	SMART
LamG	1154	1311	4.48e-16	SMART
low complexity region	1340	1370	N/A	INTRINSIC
low complexity region	1426	1447	N/A	INTRINSIC
low complexity region	1630	1645	N/A	INTRINSIC
4.1m	1648	1666	3.75e-4	SMART
low complexity region	1680	1699	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113476
AA Change: V596L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: V596L

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: 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: ENSMUST00000167240
AA Change: V596L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: V596L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 115,702,481 (GRCm39)	S82P	possibly damaging	Het
Ablim2	A	C	5: 36,014,493 (GRCm39)	E450A	probably benign	Het
Acacb	G	T	5: 114,368,922 (GRCm39)	M1713I	probably benign	Het
Acbd6	C	A	1: 155,562,766 (GRCm39)	Q256K	probably benign	Het
Agbl2	A	T	2: 90,621,975 (GRCm39)	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,626 (GRCm39)	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,546,264 (GRCm39)	D544E	probably benign	Het
Anapc1	A	T	2: 128,516,513 (GRCm39)	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,362,980 (GRCm39)	V34D		Het
Brd3	A	T	2: 27,342,945 (GRCm39)	S516T	probably benign	Het
Bsn	A	G	9: 107,992,747 (GRCm39)	S1002P	probably damaging	Het
C4b	G	T	17: 34,960,252 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,232,990 (GRCm39)	T228A	probably benign	Het
Cct6b	T	C	11: 82,632,221 (GRCm39)	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,172,403 (GRCm39)	Q552L	probably benign	Het
Col6a5	A	G	9: 105,823,049 (GRCm39)	F103L	unknown	Het
Copb2	A	G	9: 98,462,407 (GRCm39)	Q464R	possibly damaging	Het
Dlc1	G	T	8: 37,404,989 (GRCm39)	H267N	probably benign	Het
Dnajb2	T	C	1: 75,218,055 (GRCm39)	I184T		Het
Dnajc9	C	T	14: 20,438,764 (GRCm39)	E30K	possibly damaging	Het
Dock1	T	C	7: 134,678,917 (GRCm39)	L1012P	possibly damaging	Het
Dtnbp1	T	C	13: 45,106,650 (GRCm39)	K170R	probably benign	Het
F13b	T	A	1: 139,431,509 (GRCm39)	C26*	probably null	Het
Ficd	G	T	5: 113,877,020 (GRCm39)	E398D	probably benign	Het
G6pc1	G	A	11: 101,267,359 (GRCm39)	G270R	probably damaging	Het
Garin4	T	A	1: 190,895,645 (GRCm39)	T333S	probably benign	Het
Gm3604	T	C	13: 62,517,587 (GRCm39)	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,531,606 (GRCm39)	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,812,694 (GRCm39)	G7D	possibly damaging	Het
Htr3b	A	T	9: 48,856,852 (GRCm39)	S209T	probably benign	Het
Ift70a1	A	T	2: 75,811,188 (GRCm39)	D298E	probably benign	Het
Iglon5	T	A	7: 43,126,326 (GRCm39)	E192D	probably benign	Het
Inpp5f	A	G	7: 128,295,638 (GRCm39)		probably null	Het
Kif26b	T	A	1: 178,506,484 (GRCm39)	C187S	probably damaging	Het
Klhl11	A	G	11: 100,354,805 (GRCm39)	S339P	probably benign	Het
Klk14	G	A	7: 43,341,467 (GRCm39)	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,520,194 (GRCm39)	T1972I	probably benign	Het
Lama2	T	C	10: 26,869,094 (GRCm39)	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,472,746 (GRCm39)	F1088I	probably damaging	Het
Map2k2	G	A	10: 80,954,968 (GRCm39)	R185Q	probably benign	Het
Mbd5	G	A	2: 49,169,796 (GRCm39)		probably null	Het
Mdc1	A	T	17: 36,161,570 (GRCm39)	R828*	probably null	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or5g25	A	G	2: 85,478,417 (GRCm39)	S83P	possibly damaging	Het
Parp4	C	A	14: 56,832,708 (GRCm39)		probably null	Het
Pbk	T	A	14: 66,046,650 (GRCm39)		probably null	Het
Phip	A	T	9: 82,775,401 (GRCm39)	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,031,587 (GRCm39)	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,386,796 (GRCm39)	F808L	probably benign	Het
Plcl1	T	A	1: 55,736,443 (GRCm39)	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,476,172 (GRCm39)		probably null	Het
Pole	A	G	5: 110,437,727 (GRCm39)	K95R	possibly damaging	Het
Poteg	A	G	8: 27,946,888 (GRCm39)	T259A	probably benign	Het
Pramel52-ps	A	G	5: 94,531,739 (GRCm39)	M208V	probably benign	Het
Ptpn12	G	T	5: 21,260,687 (GRCm39)	P20Q	probably benign	Het
Ptpn5	T	A	7: 46,729,295 (GRCm39)	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,515,820 (GRCm39)	R845G	probably benign	Het
Rcbtb2	T	G	14: 73,399,384 (GRCm39)	V16G	probably benign	Het
Rel	T	C	11: 23,694,493 (GRCm39)	N289S	probably damaging	Het
Rpn1	T	A	6: 88,079,068 (GRCm39)	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Skic3	T	C	13: 76,260,318 (GRCm39)	C87R	probably benign	Het
Slc25a48	T	A	13: 56,611,411 (GRCm39)	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,263,506 (GRCm39)	S627N	probably benign	Het
Snx8	T	A	5: 140,343,848 (GRCm39)	M123L	probably benign	Het
Sri	A	T	5: 8,114,586 (GRCm39)	Q180H	probably benign	Het
Sycp2	T	A	2: 178,046,453 (GRCm39)	R4S	probably null	Het
Tcstv1a	G	A	13: 120,355,521 (GRCm39)	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,619,704 (GRCm39)	D87E	probably benign	Het
Trim7	A	T	11: 48,728,628 (GRCm39)	N92I	probably damaging	Het
Trpv6	C	T	6: 41,604,612 (GRCm39)	D97N	probably benign	Het
Ulk4	A	G	9: 121,102,022 (GRCm39)	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,055,973 (GRCm39)	V722I	probably benign	Het
Zan	T	C	5: 137,407,865 (GRCm39)	D3643G	unknown	Het
Zan	G	A	5: 137,463,154 (GRCm39)	T675I	unknown	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
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
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'- TCTTCAGATGTGCTGGGCTC -3'
(R):5'- TCCTTGATAGTCACAGCTGGG -3'

Sequencing Primer
(F):5'- CTGGGCTCTAAACTGTGTAATACGC -3'
(R):5'- AAGGGAGGACTCACCATT -3'

Posted On

2020-09-15