Mutagenetix > Incidental Mutation

Incidental Mutation 'R4277:Rasal2'

322732

Institutional Source

Beutler Lab

Gene Symbol

Rasal2

Ensembl Gene

ENSMUSG00000070565

Gene Name

RAS protein activator like 2

Synonyms

A330066M24Rik

MMRRC Submission

041078-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156962759-157240170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156984696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 992 (I992N)

Ref Sequence

ENSEMBL: ENSMUSP00000114964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000132699]

AlphaFold

E9PW37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078308
AA Change: I1017N

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: I1017N

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
PH	58	307	3.97e-8	SMART
C2	317	413	6.01e-10	SMART
RasGAP	423	767	4.56e-157	SMART
low complexity region	780	791	N/A	INTRINSIC
low complexity region	1063	1075	N/A	INTRINSIC
low complexity region	1084	1092	N/A	INTRINSIC
coiled coil region	1117	1236	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132699
AA Change: I992N

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: I992N

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
PH	40	289	1.7e-10	SMART
C2	299	395	4e-12	SMART
RasGAP	405	742	4.2e-153	SMART
low complexity region	755	766	N/A	INTRINSIC
low complexity region	1038	1050	N/A	INTRINSIC
low complexity region	1059	1067	N/A	INTRINSIC
coiled coil region	1092	1211	N/A	INTRINSIC

Meta Mutation Damage Score

0.0882

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced survival and decreased tumor latency. In other tumorigenic models, this allele promotes increase metastatic potential. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,397,955 (GRCm39)		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh20	T	A	1: 109,993,418 (GRCm39)	I291K	probably benign	Het
Cdhr3	T	G	12: 33,110,232 (GRCm39)	S351R	probably null	Het
Dnah10	T	C	5: 124,809,394 (GRCm39)	S221P	probably benign	Het
Dstyk	G	A	1: 132,383,151 (GRCm39)		probably null	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Folh1	A	G	7: 86,412,123 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,205,728 (GRCm39)	Y260H	possibly damaging	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Ldhc	G	A	7: 46,515,890 (GRCm39)	A62T	probably benign	Het
Ndufs1	C	T	1: 63,209,256 (GRCm39)	V36I	possibly damaging	Het
Nsun4	C	T	4: 115,891,479 (GRCm39)	G300D	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Ntn4	T	C	10: 93,577,072 (GRCm39)	I580T	possibly damaging	Het
Or7d10	A	G	9: 19,831,685 (GRCm39)	Y60C	possibly damaging	Het
Rasgrp4	T	A	7: 28,852,019 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spp2	T	C	1: 88,338,873 (GRCm39)	F79L	probably damaging	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Trpv3	A	G	11: 73,187,264 (GRCm39)	T699A	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vnn1	A	T	10: 23,774,410 (GRCm39)	D151V	possibly damaging	Het

Other mutations in Rasal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Rasal2	APN	1	156,975,387 (GRCm39)	missense	probably benign
IGL00484:Rasal2	APN	1	157,001,745 (GRCm39)	splice site	probably null
IGL00731:Rasal2	APN	1	156,985,334 (GRCm39)	missense	probably benign	0.01
IGL00900:Rasal2	APN	1	157,239,499 (GRCm39)	missense	possibly damaging	0.73
IGL01346:Rasal2	APN	1	156,988,786 (GRCm39)	missense	probably benign	0.19
IGL01635:Rasal2	APN	1	156,991,394 (GRCm39)	missense	probably damaging	1.00
IGL01759:Rasal2	APN	1	157,003,502 (GRCm39)	missense	probably benign	0.42
IGL01939:Rasal2	APN	1	157,003,480 (GRCm39)	missense	probably damaging	1.00
IGL01954:Rasal2	APN	1	157,003,686 (GRCm39)	missense	probably damaging	0.99
IGL01954:Rasal2	APN	1	157,005,269 (GRCm39)	missense	possibly damaging	0.83
IGL02005:Rasal2	APN	1	156,984,568 (GRCm39)	nonsense	probably null
IGL02056:Rasal2	APN	1	157,126,831 (GRCm39)	missense	probably damaging	0.99
IGL02444:Rasal2	APN	1	157,126,765 (GRCm39)	missense	probably benign	0.20
IGL02496:Rasal2	APN	1	156,977,449 (GRCm39)	missense	possibly damaging	0.69
IGL02832:Rasal2	APN	1	156,984,777 (GRCm39)	missense	probably damaging	1.00
IGL03351:Rasal2	APN	1	157,020,311 (GRCm39)	splice site	probably benign
R0456:Rasal2	UTSW	1	156,977,413 (GRCm39)	missense	probably damaging	1.00
R0537:Rasal2	UTSW	1	156,975,362 (GRCm39)	missense	possibly damaging	0.46
R0681:Rasal2	UTSW	1	156,984,750 (GRCm39)	missense	possibly damaging	0.70
R0682:Rasal2	UTSW	1	157,006,779 (GRCm39)	missense	probably damaging	1.00
R0683:Rasal2	UTSW	1	157,006,779 (GRCm39)	missense	probably damaging	1.00
R0787:Rasal2	UTSW	1	156,986,266 (GRCm39)	missense	probably damaging	1.00
R0789:Rasal2	UTSW	1	156,984,891 (GRCm39)	missense	probably damaging	1.00
R1109:Rasal2	UTSW	1	157,005,208 (GRCm39)	unclassified	probably benign
R1175:Rasal2	UTSW	1	156,975,218 (GRCm39)	missense	probably damaging	1.00
R1332:Rasal2	UTSW	1	157,003,391 (GRCm39)	missense	probably benign	0.00
R1396:Rasal2	UTSW	1	156,992,236 (GRCm39)	missense	probably damaging	1.00
R1535:Rasal2	UTSW	1	157,057,629 (GRCm39)	missense	probably benign	0.28
R1542:Rasal2	UTSW	1	157,003,421 (GRCm39)	missense	possibly damaging	0.84
R1703:Rasal2	UTSW	1	156,985,170 (GRCm39)	missense	probably damaging	1.00
R1735:Rasal2	UTSW	1	157,001,730 (GRCm39)	missense	probably damaging	1.00
R1762:Rasal2	UTSW	1	157,126,714 (GRCm39)	missense	possibly damaging	0.52
R2570:Rasal2	UTSW	1	156,988,870 (GRCm39)	missense	possibly damaging	0.85
R3148:Rasal2	UTSW	1	157,071,334 (GRCm39)	intron	probably benign
R3157:Rasal2	UTSW	1	156,986,225 (GRCm39)	splice site	probably benign
R4459:Rasal2	UTSW	1	157,003,402 (GRCm39)	missense	possibly damaging	0.46
R4460:Rasal2	UTSW	1	157,003,402 (GRCm39)	missense	possibly damaging	0.46
R4563:Rasal2	UTSW	1	157,003,561 (GRCm39)	missense	probably damaging	1.00
R4672:Rasal2	UTSW	1	157,071,231 (GRCm39)	missense	probably benign	0.10
R4894:Rasal2	UTSW	1	157,020,374 (GRCm39)	missense	probably damaging	0.97
R5147:Rasal2	UTSW	1	157,003,264 (GRCm39)	missense	probably damaging	1.00
R5387:Rasal2	UTSW	1	156,985,335 (GRCm39)	missense	possibly damaging	0.81
R5421:Rasal2	UTSW	1	157,126,711 (GRCm39)	missense	probably benign	0.37
R5459:Rasal2	UTSW	1	156,985,231 (GRCm39)	missense	probably damaging	0.99
R5651:Rasal2	UTSW	1	156,984,951 (GRCm39)	missense	probably damaging	1.00
R5767:Rasal2	UTSW	1	157,003,732 (GRCm39)	missense	probably damaging	1.00
R5778:Rasal2	UTSW	1	156,988,860 (GRCm39)	missense	probably damaging	1.00
R6298:Rasal2	UTSW	1	157,239,432 (GRCm39)	missense	possibly damaging	0.85
R6332:Rasal2	UTSW	1	157,126,757 (GRCm39)	missense	probably damaging	1.00
R6571:Rasal2	UTSW	1	156,988,749 (GRCm39)	missense	possibly damaging	0.72
R7258:Rasal2	UTSW	1	156,985,270 (GRCm39)	missense	probably damaging	0.96
R7545:Rasal2	UTSW	1	157,020,339 (GRCm39)	missense	possibly damaging	0.93
R7558:Rasal2	UTSW	1	157,003,406 (GRCm39)	missense	probably damaging	0.99
R7894:Rasal2	UTSW	1	157,071,218 (GRCm39)	missense	probably benign	0.01
R8140:Rasal2	UTSW	1	157,126,805 (GRCm39)	missense	probably damaging	0.97
R8141:Rasal2	UTSW	1	156,992,240 (GRCm39)	missense	possibly damaging	0.89
R8151:Rasal2	UTSW	1	157,071,154 (GRCm39)	missense	probably damaging	0.96
R8218:Rasal2	UTSW	1	156,984,951 (GRCm39)	missense	probably damaging	0.99
R8517:Rasal2	UTSW	1	156,973,849 (GRCm39)	critical splice acceptor site	probably null
R9021:Rasal2	UTSW	1	157,058,514 (GRCm39)	missense	unknown
RF024:Rasal2	UTSW	1	156,975,360 (GRCm39)	missense	probably damaging	0.97
Z1177:Rasal2	UTSW	1	157,003,243 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTGCTCTCACTTTGGGAAC -3'
(R):5'- TTGGAGAACCTAAGCACTGCC -3'

Sequencing Primer
(F):5'- ACTTTGGGAACAGGGCTCTCTC -3'
(R):5'- TAAGCACTGCCAGTTCTAGAAG -3'

Posted On

2015-06-20