Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Rasgrp2'

663525

Institutional Source

Beutler Lab

Gene Symbol

Rasgrp2

Ensembl Gene

ENSMUSG00000032946

Gene Name

RAS, guanyl releasing protein 2

Synonyms

Caldaggef1, CalDAG-GEFI

MMRRC Submission

068589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8745 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

6449370-6465246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6463949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 549 (R549L)

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 damaging
Transcript: ENSMUST00000035716
AA Change: R549L

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

SMART Domains

Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: R549L

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 damaging
Transcript: ENSMUST00000113476
AA Change: R549L

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

SMART Domains

Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: R549L

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 damaging
Transcript: ENSMUST00000167240
AA Change: R549L

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

SMART Domains

Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: R549L

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: 99.9%
10x: 99.2%
20x: 96.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,611,807 (GRCm39)	N377S	probably benign	Het
Aldh3b3	A	T	19: 4,014,890 (GRCm39)	Y129F	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd61	G	A	5: 143,828,237 (GRCm39)	S246L	possibly damaging	Het
Ccdc187	T	A	2: 26,170,526 (GRCm39)	I651F	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfap58	A	T	19: 47,929,553 (GRCm39)	K5*	probably null	Het
Col27a1	T	C	4: 63,144,153 (GRCm39)	S614P	probably benign	Het
Crlf3	T	A	11: 79,955,100 (GRCm39)	E85D	probably damaging	Het
Dennd2b	T	A	7: 109,156,279 (GRCm39)	H157L	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,221,624 (GRCm39)	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 98,999,345 (GRCm39)	T177A	probably benign	Het
Dytn	A	T	1: 63,686,606 (GRCm39)	C355S	probably benign	Het
Efcab3	C	T	11: 104,749,304 (GRCm39)	T2340M	possibly damaging	Het
Ehbp1	T	C	11: 22,119,064 (GRCm39)	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,215,212 (GRCm39)	I491T	unknown	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fam53a	A	T	5: 33,767,781 (GRCm39)	I43N	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,676,528 (GRCm39)	T568A	probably benign	Het
Gba1	A	T	3: 89,115,180 (GRCm39)	N404I	probably damaging	Het
Gsap	A	G	5: 21,474,949 (GRCm39)	Y536C	probably benign	Het
Hecw2	T	A	1: 53,972,330 (GRCm39)	E230V	probably damaging	Het
Heg1	A	G	16: 33,555,986 (GRCm39)	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,107,445 (GRCm39)	W233*	probably null	Het
Krt88	T	C	15: 101,351,460 (GRCm39)	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,812,137 (GRCm39)	H727Q	probably benign	Het
Man1c1	T	C	4: 134,303,295 (GRCm39)	K400E	probably damaging	Het
Map2	A	T	1: 66,452,556 (GRCm39)	Q482L	probably benign	Het
Map3k1	A	G	13: 111,893,306 (GRCm39)	V733A	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Map4k3	G	A	17: 80,944,164 (GRCm39)	R328C	possibly damaging	Het
Marchf7	C	T	2: 60,067,153 (GRCm39)	Q558*	probably null	Het
Mepe	T	C	5: 104,485,525 (GRCm39)	S222P	possibly damaging	Het
Mfap3l	A	T	8: 61,124,958 (GRCm39)	N400I	possibly damaging	Het
Myom3	T	C	4: 135,522,509 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,659,311 (GRCm39)	T769A	probably benign	Het
Ndufb7	T	A	8: 84,297,518 (GRCm39)	Y58N	probably damaging	Het
Nup160	T	C	2: 90,530,463 (GRCm39)	F445L	probably benign	Het
Or1e20-ps1	C	A	11: 73,324,848 (GRCm39)	*68L	probably null	Het
Or4c126	T	A	2: 89,824,076 (GRCm39)	M113K	probably damaging	Het
Or4p23	T	C	2: 88,576,408 (GRCm39)	I275V	possibly damaging	Het
Ovch2	G	A	7: 107,389,584 (GRCm39)	S321F	possibly damaging	Het
Pamr1	T	C	2: 102,441,924 (GRCm39)	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,828,974 (GRCm39)	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,039,159 (GRCm39)	S34P	probably benign	Het
Pitrm1	C	T	13: 6,603,238 (GRCm39)	P96L	probably damaging	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,065,244 (GRCm39)	S21P	possibly damaging	Het
Rassf10	T	A	7: 112,554,083 (GRCm39)	L228Q	probably damaging	Het
Rho	A	T	6: 115,912,483 (GRCm39)	I275F	probably damaging	Het
Rrp9	T	C	9: 106,361,657 (GRCm39)	V400A	possibly damaging	Het
Satb2	A	G	1: 57,008,796 (GRCm39)	L62P	unknown	Het
Scmh1	T	A	4: 120,362,559 (GRCm39)	L265*	probably null	Het
Scn7a	A	G	2: 66,510,526 (GRCm39)	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,474,542 (GRCm39)	T235S	probably benign	Het
Serpinb6c	A	G	13: 34,064,702 (GRCm39)	V214A	probably benign	Het
Sf3b3	A	G	8: 111,550,816 (GRCm39)	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Snx5	A	T	2: 144,103,932 (GRCm39)	S22T	probably benign	Het
Spata6	T	C	4: 111,636,476 (GRCm39)	F256L	probably benign	Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Tex9	T	C	9: 72,389,778 (GRCm39)	I111V	probably benign	Het
Tigd4	A	G	3: 84,501,874 (GRCm39)	I264V	probably benign	Het
Tmem182	C	T	1: 40,877,536 (GRCm39)	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,338,745 (GRCm39)	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,773,202 (GRCm39)	F542L		Het
Tpbpa	G	A	13: 61,087,778 (GRCm39)	T86I	possibly damaging	Het
Trappc14	A	G	5: 138,261,327 (GRCm39)		probably null	Het
Ubr5	G	A	15: 38,025,039 (GRCm39)	P573L		Het
Usp54	A	G	14: 20,612,176 (GRCm39)	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,048,767 (GRCm39)	I281V	probably benign	Het
Zfp456	C	A	13: 67,515,373 (GRCm39)	C111F	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
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
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'- AACTTTTGAGAGGGTGTAGTCC -3'
(R):5'- TCTTTATAGTCCCAGCCGGC -3'

Sequencing Primer
(F):5'- GGGTGTAGTCCGGTATTAAATTAAC -3'
(R):5'- CCGGCATTCTGGATAAGTTAATAGGC -3'

Posted On

2021-03-08