Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01645:Rasa2'

102615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasa2

Ensembl Gene

ENSMUSG00000032413

Gene Name

RAS p21 protein activator 2

Synonyms

GAP1m, 5430433H21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL01645

Quality Score

Status

Chromosome

Chromosomal Location

96539300-96631617 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 96582781 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 190 (C190*)

Ref Sequence

ENSEMBL: ENSMUSP00000034984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]

Predicted Effect

probably null
Transcript: ENSMUST00000034984
AA Change: C190*

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: C190*

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
C2	38	136	3.78e-16	SMART
C2	171	287	8.48e-19	SMART
RasGAP	300	641	7.05e-140	SMART
PH	604	706	1.98e-17	SMART
BTK	706	742	1.39e-18	SMART
low complexity region	824	838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128346

SMART Domains

Protein: ENSMUSP00000115629
Gene: ENSMUSG00000032413

Domain	Start	End	E-Value	Type
C2	3	79	6.86e-5	SMART
C2	114	230	8.48e-19	SMART
RasGAP	243	584	7.05e-140	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190537

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,773,554	E232G	probably damaging	Het
Abcc8	C	T	7: 46,115,053	C1156Y	possibly damaging	Het
Armc4	T	C	18: 7,268,491	S343G	probably benign	Het
Atp8b1	G	A	18: 64,546,113	H766Y	probably benign	Het
BC030867	T	C	11: 102,255,186	L96P	probably damaging	Het
Cacna2d1	C	A	5: 16,012,391		probably null	Het
Card11	T	A	5: 140,878,023	T987S	probably benign	Het
Dmxl2	A	T	9: 54,378,733	Y2723N	possibly damaging	Het
Dnah11	T	A	12: 118,186,998	I342F	possibly damaging	Het
Dnajc10	A	G	2: 80,340,527	H454R	possibly damaging	Het
Dpy19l3	T	C	7: 35,695,338	T592A	probably benign	Het
Eea1	T	A	10: 95,989,589	S49T	probably damaging	Het
Esd	T	A	14: 74,749,719	N294K	probably benign	Het
Fmo3	A	G	1: 162,964,006	V234A	possibly damaging	Het
Folh1	A	G	7: 86,742,227	F420L	probably damaging	Het
Gabra1	T	C	11: 42,135,562	N301S	probably damaging	Het
Gm5422	A	T	10: 31,250,073		noncoding transcript	Het
Gorab	A	T	1: 163,386,431	L310Q	possibly damaging	Het
Gsdme	A	G	6: 50,251,336	Y51H	probably damaging	Het
Itpr1	T	C	6: 108,473,599	I1964T	possibly damaging	Het
Lmbr1	A	G	5: 29,235,055	L410P	probably damaging	Het
Lrrc37a	T	C	11: 103,504,264	R112G	probably benign	Het
Mrgpra6	T	C	7: 47,185,933	T247A	probably benign	Het
Mroh4	A	G	15: 74,611,358		probably benign	Het
Mycbpap	T	C	11: 94,503,467		probably null	Het
Myoz2	T	A	3: 123,034,232	K12N	probably damaging	Het
Olfr412	T	C	11: 74,365,533	I288T	possibly damaging	Het
P3h1	T	G	4: 119,236,783	F212V	probably damaging	Het
Pcnx2	T	C	8: 125,887,917	D265G	probably damaging	Het
Pkd1l3	C	T	8: 109,635,302	T992I	possibly damaging	Het
Prss58	T	C	6: 40,897,310	D144G	probably damaging	Het
Pth2	T	A	7: 45,181,340	L29Q	possibly damaging	Het
Rab1b	A	C	19: 5,104,934		probably benign	Het
Scn9a	T	C	2: 66,487,642	K1501E	possibly damaging	Het
Selenoi	A	G	5: 30,257,823		probably benign	Het
Slc11a2	T	C	15: 100,389,118	N558S	probably benign	Het
Sox10	T	C	15: 79,156,339	I173V	probably benign	Het
Sra1	A	C	18: 36,671,473	F476C	probably damaging	Het
St5	T	A	7: 109,527,634	K540*	probably null	Het
Tmem119	T	A	5: 113,795,348	K131*	probably null	Het
Trim12c	T	A	7: 104,345,054	K198*	probably null	Het
Ttn	A	G	2: 76,851,560		probably benign	Het
Unc119b	C	T	5: 115,127,312	V154I	probably benign	Het
Usp47	T	A	7: 112,054,862	S108R	probably damaging	Het
Vmn1r15	T	A	6: 57,258,562	C138*	probably null	Het
Vmn1r191	T	C	13: 22,179,444	I47V	probably benign	Het
Wnt3	C	T	11: 103,812,378	A229V	probably benign	Het

Other mutations in Rasa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Rasa2	APN	9	96544860	missense	probably damaging	1.00
IGL00661:Rasa2	APN	9	96577553	splice site	probably benign
IGL00825:Rasa2	APN	9	96570719	missense	probably benign	0.37
IGL02260:Rasa2	APN	9	96544319	missense	probably benign	0.08
IGL02568:Rasa2	APN	9	96580510	missense	probably damaging	1.00
IGL02963:Rasa2	APN	9	96570785	missense	probably damaging	1.00
R0018:Rasa2	UTSW	9	96571963	missense	probably damaging	1.00
R0018:Rasa2	UTSW	9	96571963	missense	probably damaging	1.00
R0144:Rasa2	UTSW	9	96592019	missense	probably damaging	0.99
R0238:Rasa2	UTSW	9	96568407	missense	probably damaging	1.00
R0238:Rasa2	UTSW	9	96568407	missense	probably damaging	1.00
R0295:Rasa2	UTSW	9	96545810	splice site	probably null
R0332:Rasa2	UTSW	9	96606176	missense	probably damaging	1.00
R0348:Rasa2	UTSW	9	96571959	missense	probably damaging	1.00
R0931:Rasa2	UTSW	9	96552404	missense	possibly damaging	0.88
R1067:Rasa2	UTSW	9	96552323	missense	probably damaging	1.00
R1485:Rasa2	UTSW	9	96544348	missense	probably benign	0.00
R1562:Rasa2	UTSW	9	96545750	missense	possibly damaging	0.89
R1698:Rasa2	UTSW	9	96568375	missense	possibly damaging	0.56
R1980:Rasa2	UTSW	9	96570768	missense	probably damaging	0.99
R3055:Rasa2	UTSW	9	96611473	missense	possibly damaging	0.77
R4175:Rasa2	UTSW	9	96560777	missense	probably benign	0.01
R4258:Rasa2	UTSW	9	96557380	intron	probably benign
R4432:Rasa2	UTSW	9	96542407	unclassified	probably benign
R4636:Rasa2	UTSW	9	96544337	missense	probably benign
R4773:Rasa2	UTSW	9	96544417	missense	probably benign
R4990:Rasa2	UTSW	9	96591989	missense	probably benign	0.24
R5177:Rasa2	UTSW	9	96544791	nonsense	probably null
R5462:Rasa2	UTSW	9	96571918	missense	probably damaging	1.00
R5737:Rasa2	UTSW	9	96570665	critical splice donor site	probably null
R5775:Rasa2	UTSW	9	96577468	splice site	probably null
R5866:Rasa2	UTSW	9	96545770	missense	probably benign	0.00
R5938:Rasa2	UTSW	9	96611389	missense	possibly damaging	0.50
R6076:Rasa2	UTSW	9	96545646	missense	probably benign
R6216:Rasa2	UTSW	9	96544304	missense	probably damaging	1.00
R6743:Rasa2	UTSW	9	96611440	missense	probably damaging	1.00
R6982:Rasa2	UTSW	9	96560750	missense	probably damaging	1.00
R7350:Rasa2	UTSW	9	96544355	missense	probably benign	0.16
R7405:Rasa2	UTSW	9	96566027	missense	probably benign	0.09
R7490:Rasa2	UTSW	9	96566122	missense	possibly damaging	0.48
R7515:Rasa2	UTSW	9	96552300	splice site	probably null
R7547:Rasa2	UTSW	9	96611421	missense	probably damaging	1.00
R7557:Rasa2	UTSW	9	96557425	missense	probably damaging	0.98

Posted On

2014-01-21