Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00900:Rasal2'

26598

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00900

Quality Score

Status

Chromosome

Chromosomal Location

157135182-157412595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157411929 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4 (S4P)

Ref Sequence

ENSEMBL: ENSMUSP00000077423 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000061537

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078308
AA Change: S4P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: S4P

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 benign
Transcript: ENSMUST00000132699

SMART Domains

Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194868

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,470,557		probably benign	Het
Agap3	G	A	5: 24,476,368		probably benign	Het
Angptl2	A	T	2: 33,243,772	M369L	probably benign	Het
Arhgef11	A	G	3: 87,683,560	D36G	possibly damaging	Het
Ccnt1	A	G	15: 98,554,633	V134A	probably damaging	Het
Ces1e	T	C	8: 93,217,617	H191R	probably damaging	Het
Dhh	A	G	15: 98,898,220		probably benign	Het
Edil3	C	A	13: 89,289,533	H418N	probably benign	Het
Fam161b	T	C	12: 84,355,969	I296V	probably benign	Het
Focad	T	A	4: 88,129,023	N86K	probably damaging	Het
Foxn1	C	T	11: 78,371,283	G87S	probably benign	Het
Glipr1l2	T	C	10: 112,097,982	Y220H	probably benign	Het
Hnrnpa1	A	G	15: 103,243,739		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ipo11	T	C	13: 106,847,444	M797V	possibly damaging	Het
Klhdc2	T	A	12: 69,303,534	F118I	probably benign	Het
Mtap	T	A	4: 89,172,357	Y221*	probably null	Het
Myh2	T	C	11: 67,179,384	V414A	probably damaging	Het
Ncor2	A	T	5: 125,025,784	Y1999N	probably damaging	Het
Olfr1167	A	G	2: 88,149,260	F253S	possibly damaging	Het
Oxsm	A	G	14: 16,242,023	S249P	probably damaging	Het
Pabpc4l	T	A	3: 46,447,072	I46F	possibly damaging	Het
Pcnx2	A	G	8: 125,863,236		probably benign	Het
Reln	A	G	5: 21,980,117	V1534A	probably damaging	Het
Rnf138	T	A	18: 21,020,960	D174E	possibly damaging	Het
Sh3pxd2a	T	A	19: 47,314,155	N162Y	probably benign	Het
Slc6a4	A	T	11: 77,023,180	T519S	probably benign	Het
Slfn9	A	T	11: 82,981,371	C846*	probably null	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Trip12	A	G	1: 84,724,764	S1945P	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,132	F69L	probably benign	Het
Zeb2	T	C	2: 44,997,275	D545G	probably damaging	Het

Other mutations in Rasal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Rasal2	APN	1	157147817	missense	probably benign
IGL00484:Rasal2	APN	1	157174175	splice site	probably null
IGL00731:Rasal2	APN	1	157157764	missense	probably benign	0.01
IGL01346:Rasal2	APN	1	157161216	missense	probably benign	0.19
IGL01635:Rasal2	APN	1	157163824	missense	probably damaging	1.00
IGL01759:Rasal2	APN	1	157175932	missense	probably benign	0.42
IGL01939:Rasal2	APN	1	157175910	missense	probably damaging	1.00
IGL01954:Rasal2	APN	1	157177699	missense	possibly damaging	0.83
IGL01954:Rasal2	APN	1	157176116	missense	probably damaging	0.99
IGL02005:Rasal2	APN	1	157156998	nonsense	probably null
IGL02056:Rasal2	APN	1	157299261	missense	probably damaging	0.99
IGL02444:Rasal2	APN	1	157299195	missense	probably benign	0.20
IGL02496:Rasal2	APN	1	157149879	missense	possibly damaging	0.69
IGL02832:Rasal2	APN	1	157157207	missense	probably damaging	1.00
IGL03351:Rasal2	APN	1	157192741	splice site	probably benign
R0456:Rasal2	UTSW	1	157149843	missense	probably damaging	1.00
R0537:Rasal2	UTSW	1	157147792	missense	possibly damaging	0.46
R0681:Rasal2	UTSW	1	157157180	missense	possibly damaging	0.70
R0682:Rasal2	UTSW	1	157179209	missense	probably damaging	1.00
R0683:Rasal2	UTSW	1	157179209	missense	probably damaging	1.00
R0787:Rasal2	UTSW	1	157158696	missense	probably damaging	1.00
R0789:Rasal2	UTSW	1	157157321	missense	probably damaging	1.00
R1109:Rasal2	UTSW	1	157177638	unclassified	probably benign
R1175:Rasal2	UTSW	1	157147648	missense	probably damaging	1.00
R1332:Rasal2	UTSW	1	157175821	missense	probably benign	0.00
R1396:Rasal2	UTSW	1	157164666	missense	probably damaging	1.00
R1535:Rasal2	UTSW	1	157230059	missense	probably benign	0.28
R1542:Rasal2	UTSW	1	157175851	missense	possibly damaging	0.84
R1703:Rasal2	UTSW	1	157157600	missense	probably damaging	1.00
R1735:Rasal2	UTSW	1	157174160	missense	probably damaging	1.00
R1762:Rasal2	UTSW	1	157299144	missense	possibly damaging	0.52
R2570:Rasal2	UTSW	1	157161300	missense	possibly damaging	0.85
R3148:Rasal2	UTSW	1	157243764	intron	probably benign
R3157:Rasal2	UTSW	1	157158655	splice site	probably benign
R4277:Rasal2	UTSW	1	157157126	missense	possibly damaging	0.46
R4459:Rasal2	UTSW	1	157175832	missense	possibly damaging	0.46
R4460:Rasal2	UTSW	1	157175832	missense	possibly damaging	0.46
R4563:Rasal2	UTSW	1	157175991	missense	probably damaging	1.00
R4672:Rasal2	UTSW	1	157243661	missense	probably benign	0.10
R4894:Rasal2	UTSW	1	157192804	missense	probably damaging	0.97
R5147:Rasal2	UTSW	1	157175694	missense	probably damaging	1.00
R5387:Rasal2	UTSW	1	157157765	missense	possibly damaging	0.81
R5421:Rasal2	UTSW	1	157299141	missense	probably benign	0.37
R5459:Rasal2	UTSW	1	157157661	missense	probably damaging	0.99
R5651:Rasal2	UTSW	1	157157381	missense	probably damaging	1.00
R5767:Rasal2	UTSW	1	157176162	missense	probably damaging	1.00
R5778:Rasal2	UTSW	1	157161290	missense	probably damaging	1.00
R6298:Rasal2	UTSW	1	157411862	missense	possibly damaging	0.85
R6332:Rasal2	UTSW	1	157299187	missense	probably damaging	1.00
R6571:Rasal2	UTSW	1	157161179	missense	possibly damaging	0.72
R7258:Rasal2	UTSW	1	157157700	missense	probably damaging	0.96
R7545:Rasal2	UTSW	1	157192769	missense	possibly damaging	0.93
R7558:Rasal2	UTSW	1	157175836	missense	probably damaging	0.99
R7894:Rasal2	UTSW	1	157243648	missense	probably benign	0.01
R8140:Rasal2	UTSW	1	157299235	missense	probably damaging	0.97
R8141:Rasal2	UTSW	1	157164670	missense	possibly damaging	0.89
R8151:Rasal2	UTSW	1	157243584	missense	probably damaging	0.96
R8218:Rasal2	UTSW	1	157157381	missense	probably damaging	0.99
R8517:Rasal2	UTSW	1	157146279	critical splice acceptor site	probably null
RF024:Rasal2	UTSW	1	157147790	missense	probably damaging	0.97
Z1177:Rasal2	UTSW	1	157175673	missense	probably damaging	1.00

Posted On

2013-04-17