Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02056:Rasal2'

185229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasal2

Ensembl Gene

ENSMUSG00000070565

Gene Name

RAS protein activator like 2

Synonyms

A330066M24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02056

Quality Score

Status

Chromosome

Chromosomal Location

156962759-157240170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157126831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 51 (V51A)

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: V69A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: V69A

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

probably damaging
Transcript: ENSMUST00000132699
AA Change: V51A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: V51A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143080

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg101	T	C	15: 101,188,218 (GRCm39)	S108P	probably damaging	Het
BB014433	A	T	8: 15,092,435 (GRCm39)	C139*	probably null	Het
Cacna1s	A	G	1: 136,046,738 (GRCm39)	N1808S	probably benign	Het
Ccdc148	A	G	2: 58,894,081 (GRCm39)		probably benign	Het
Dnah7a	T	G	1: 53,543,501 (GRCm39)	N2223T	probably benign	Het
Fgl2	T	A	5: 21,580,543 (GRCm39)	I295K	probably damaging	Het
Foxj3	T	C	4: 119,442,954 (GRCm39)	I126T	probably damaging	Het
Gm4540	T	A	3: 105,942,056 (GRCm39)		probably benign	Het
Hps5	T	G	7: 46,437,606 (GRCm39)	K156N	probably damaging	Het
Hsp90aa1	T	C	12: 110,660,449 (GRCm39)		probably benign	Het
Il12rb1	C	T	8: 71,263,831 (GRCm39)	R131*	probably null	Het
Itgb2l	T	C	16: 96,228,889 (GRCm39)	E438G	probably damaging	Het
Kplce	T	A	3: 92,776,200 (GRCm39)	Q161L	probably benign	Het
Nbeal2	A	T	9: 110,456,392 (GRCm39)	L2379Q	probably benign	Het
Neurl4	T	C	11: 69,796,616 (GRCm39)	V481A	probably damaging	Het
Nos1ap	A	G	1: 170,146,192 (GRCm39)	F454S	possibly damaging	Het
Pik3r5	G	T	11: 68,381,681 (GRCm39)	G242C	possibly damaging	Het
Pkd1l3	A	G	8: 110,358,010 (GRCm39)	N834S	probably benign	Het
Prkar2b	A	G	12: 32,025,909 (GRCm39)		probably benign	Het
Pusl1	T	C	4: 155,975,029 (GRCm39)	T191A	probably benign	Het
Rsc1a1	T	A	4: 141,412,796 (GRCm39)	I39F	probably benign	Het
Slc2a3	G	A	6: 122,712,437 (GRCm39)	P269L	probably damaging	Het
Sntb1	C	T	15: 55,511,435 (GRCm39)	G383D	possibly damaging	Het
Washc5	T	C	15: 59,222,185 (GRCm39)	T547A	possibly damaging	Het
Zfr	T	C	15: 12,154,533 (GRCm39)	V572A	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably 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
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
R4277:Rasal2	UTSW	1	156,984,696 (GRCm39)	missense	possibly damaging	0.46
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

Posted On

2014-05-07