Mutagenetix > Incidental Mutation

Incidental Mutation 'R3148:Rasal2'

477983

Institutional Source

Beutler Lab

Gene Symbol

Rasal2

Ensembl Gene

ENSMUSG00000070565

Gene Name

RAS protein activator like 2

Synonyms

A330066M24Rik

MMRRC Submission

040600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156962759-157240170 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 157071334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000129880] [ENSMUST00000132699] [ENSMUST00000134543]

AlphaFold

E9PW37

Predicted Effect

probably benign
Transcript: ENSMUST00000078308

SMART Domains

Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565

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

unknown
Transcript: ENSMUST00000129880
AA Change: S7T

SMART Domains

Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
AA Change: S7T

Domain	Start	End	E-Value	Type
PH	128	243	8.46e-3	SMART
Pfam:C2	252	323	1.7e-7	PFAM

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

probably benign
Transcript: ENSMUST00000134543

SMART Domains

Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565

Domain	Start	End	E-Value	Type
PH	45	160	8.46e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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
4933436I01Rik	T	C	X: 66,964,984 (GRCm39)	D12G	probably benign	Het
Adamts18	C	A	8: 114,465,490 (GRCm39)	V701L	probably damaging	Het
Alg2	A	T	4: 47,472,259 (GRCm39)	V183D	probably damaging	Het
Ank2	T	C	3: 126,726,724 (GRCm39)	I857V	probably benign	Het
Asb15	G	T	6: 24,566,258 (GRCm39)	A404S	probably damaging	Het
Baalc	A	T	15: 38,812,568 (GRCm39)	E106V	possibly damaging	Het
Catsperd	G	T	17: 56,971,039 (GRCm39)	C701F	possibly damaging	Het
Cc2d2a	T	A	5: 43,866,497 (GRCm39)	I769N	probably damaging	Het
Cntnap4	A	G	8: 113,484,071 (GRCm39)	T375A	probably damaging	Het
Col7a1	A	G	9: 108,790,473 (GRCm39)	T974A	unknown	Het
Ehbp1	T	C	11: 22,050,465 (GRCm39)	Y502C	probably damaging	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Marf1	A	G	16: 13,943,843 (GRCm39)	V1380A	possibly damaging	Het
Or4k36	T	C	2: 111,146,633 (GRCm39)	F270L	possibly damaging	Het
Otog	T	C	7: 45,939,593 (GRCm39)	L2124P	probably damaging	Het
Pam	T	A	1: 97,823,403 (GRCm39)	N256I	possibly damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pramel21	A	T	4: 143,344,047 (GRCm39)	D449V	probably benign	Het
Prrx1	T	C	1: 163,085,417 (GRCm39)	D171G	probably benign	Het
Serpinb5	T	A	1: 106,809,555 (GRCm39)	H320Q	probably damaging	Het
Snx4	A	C	16: 33,108,094 (GRCm39)	D296A	probably benign	Het
Sorcs2	T	C	5: 36,193,132 (GRCm39)	Q778R	probably benign	Het
Spata16	T	C	3: 26,932,861 (GRCm39)		probably null	Het
Tcerg1l	G	T	7: 137,861,596 (GRCm39)	Q378K	probably benign	Het
Trpm1	T	C	7: 63,884,760 (GRCm39)	Y814H	probably benign	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
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

Predicted Primers

Posted On

2017-05-15