Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Rasal2'

348488

Institutional Source

Beutler Lab

Gene Symbol

Rasal2

Ensembl Gene

ENSMUSG00000070565

Gene Name

RAS protein activator like 2

Synonyms

A330066M24Rik

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156962759-157240170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157071231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 41 (F41S)

Ref Sequence

ENSEMBL: ENSMUSP00000118367 (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

probably benign
Transcript: ENSMUST00000129880
AA Change: F41S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565
AA Change: F41S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		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
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
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'- TGAAGTGTTGTTCCCCAAAGTAC -3'
(R):5'- GGCTTTCTCTTTCAGGCTAAAGC -3'

Sequencing Primer
(F):5'- GTGTTGTTCCCCAAAGTACAAAAAG -3'
(R):5'- CTCTTTCAGGCTAAAGCTGAAC -3'

Posted On

2015-10-08