Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00473:Rasal2'

13759

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 #

IGL00473

Quality Score

Status

Chromosome

Chromosomal Location

156962759-157240170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156975387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1116 (T1116A)

Ref Sequence

ENSEMBL: ENSMUSP00000114964 (fasta)

Gene Model

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

AlphaFold

E9PW37

Predicted Effect

probably benign
Transcript: ENSMUST00000078308
AA Change: T1141A

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

SMART Domains

Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: T1141A

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
AA Change: T1116A

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

SMART Domains

Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: T1116A

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arcn1	A	G	9: 44,668,444 (GRCm39)	V264A	probably benign	Het
Asap1	T	C	15: 64,045,064 (GRCm39)		probably benign	Het
Brpf1	A	C	6: 113,293,645 (GRCm39)	Q571H	probably damaging	Het
C9orf72	C	T	4: 35,213,616 (GRCm39)	G178E	possibly damaging	Het
Creb3	G	T	4: 43,565,517 (GRCm39)	R232L	probably benign	Het
Cst5	G	T	2: 149,247,293 (GRCm39)	S3I	unknown	Het
Cyp4a14	A	G	4: 115,347,149 (GRCm39)		probably benign	Het
Daxx	C	T	17: 34,130,581 (GRCm39)	Q199*	probably null	Het
Eml5	A	G	12: 98,771,751 (GRCm39)		probably benign	Het
Gbp6	T	A	5: 105,422,145 (GRCm39)	K520*	probably null	Het
Gcfc2	T	A	6: 81,921,355 (GRCm39)	C454S	probably damaging	Het
Gm9894	T	A	13: 67,913,236 (GRCm39)		noncoding transcript	Het
Gpr15	C	T	16: 58,538,441 (GRCm39)	C216Y	probably damaging	Het
Gzmn	T	C	14: 56,404,436 (GRCm39)	K134E	probably benign	Het
Kat2b	T	G	17: 53,970,651 (GRCm39)	I679S	possibly damaging	Het
Klhl10	A	G	11: 100,347,240 (GRCm39)	Y478C	probably damaging	Het
Mapt	A	G	11: 104,178,009 (GRCm39)	D54G	probably damaging	Het
Mocs1	A	G	17: 49,740,229 (GRCm39)	E52G	probably benign	Het
Plekhn1	T	G	4: 156,307,820 (GRCm39)	T369P	probably damaging	Het
Prdm6	T	A	18: 53,673,357 (GRCm39)	F172L	probably benign	Het
Prl7b1	A	T	13: 27,788,573 (GRCm39)	V94D	probably damaging	Het
Rreb1	A	T	13: 38,114,767 (GRCm39)	K709*	probably null	Het
Ruvbl1	A	T	6: 88,468,550 (GRCm39)	R357W	probably damaging	Het
Slc4a5	T	C	6: 83,273,579 (GRCm39)	L973P	probably damaging	Het
Srp72	A	G	5: 77,132,023 (GRCm39)	Y234C	probably damaging	Het
Synrg	G	A	11: 83,930,072 (GRCm39)	M1070I	probably damaging	Het
Zan	A	T	5: 137,462,512 (GRCm39)	I889K	possibly damaging	Het
Zbtb40	G	A	4: 136,714,651 (GRCm39)	T1046M	probably damaging	Het
Zfp978	A	G	4: 147,475,317 (GRCm39)	N288S	probably benign	Het
Zfpm2	A	T	15: 40,962,683 (GRCm39)	K247M	probably damaging	Het

Other mutations in Rasal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06