Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00426:Rasa2'

4831

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

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL00426

Quality Score

Status

Chromosome

Chromosomal Location

96421353-96513665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96426913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 752 (D752N)

Ref Sequence

ENSEMBL: ENSMUSP00000034984 (fasta)

Gene Model

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

AlphaFold

P58069

Predicted Effect

probably damaging
Transcript: ENSMUST00000034984
AA Change: D752N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: D752N

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

noncoding transcript
Transcript: ENSMUST00000122752

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: ENSMUST00000188853

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,278 (GRCm39)	E313K	probably damaging	Het
Aadacl2fm2	T	A	3: 59,659,542 (GRCm39)	L332I	possibly damaging	Het
Adgrl2	A	G	3: 148,571,244 (GRCm39)	V130A	probably damaging	Het
Arhgef28	G	A	13: 98,124,785 (GRCm39)	A499V	probably benign	Het
Ceacam18	C	T	7: 43,288,780 (GRCm39)	T177I	probably benign	Het
Cspp1	G	A	1: 10,182,776 (GRCm39)		probably benign	Het
Cyp2j7	A	T	4: 96,115,749 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,115,750 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,656,551 (GRCm39)	F821L	probably damaging	Het
Lrig3	A	T	10: 125,808,006 (GRCm39)	R85*	probably null	Het
Mcf2l	A	G	8: 13,034,910 (GRCm39)	D106G	probably damaging	Het
Mdn1	T	C	4: 32,719,214 (GRCm39)	V2259A	possibly damaging	Het
Mmp16	C	T	4: 18,011,784 (GRCm39)	P233L	probably benign	Het
Mrpl27	A	G	11: 94,550,523 (GRCm39)	N110S	probably benign	Het
Myom2	T	C	8: 15,119,502 (GRCm39)	M131T	probably benign	Het
Myzap	T	C	9: 71,462,953 (GRCm39)	T198A	probably benign	Het
Nek8	T	C	11: 78,058,653 (GRCm39)	Q549R	probably damaging	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nup155	T	C	15: 8,186,278 (GRCm39)	*1347Q	probably null	Het
Pkd2l1	C	T	19: 44,144,044 (GRCm39)	R343H	probably benign	Het
Ppfibp2	T	A	7: 107,308,012 (GRCm39)	L215H	probably damaging	Het
Ralgds	T	C	2: 28,442,230 (GRCm39)	L137P	probably damaging	Het
Spg11	T	C	2: 121,896,041 (GRCm39)	K1726E	probably damaging	Het
St6gal1	G	A	16: 23,175,142 (GRCm39)		probably benign	Het
Tmem183a	A	G	1: 134,277,882 (GRCm39)	L294P	probably damaging	Het
Trav19	T	C	14: 54,083,141 (GRCm39)	L72P	probably damaging	Het
Vapa	T	C	17: 65,900,476 (GRCm39)	T99A	possibly damaging	Het

Other mutations in Rasa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Rasa2	APN	9	96,459,606 (GRCm39)	splice site	probably benign
IGL00825:Rasa2	APN	9	96,452,772 (GRCm39)	missense	probably benign	0.37
IGL01645:Rasa2	APN	9	96,464,834 (GRCm39)	nonsense	probably null
IGL02260:Rasa2	APN	9	96,426,372 (GRCm39)	missense	probably benign	0.08
IGL02568:Rasa2	APN	9	96,462,563 (GRCm39)	missense	probably damaging	1.00
IGL02963:Rasa2	APN	9	96,452,838 (GRCm39)	missense	probably damaging	1.00
R0018:Rasa2	UTSW	9	96,454,016 (GRCm39)	missense	probably damaging	1.00
R0018:Rasa2	UTSW	9	96,454,016 (GRCm39)	missense	probably damaging	1.00
R0144:Rasa2	UTSW	9	96,474,072 (GRCm39)	missense	probably damaging	0.99
R0238:Rasa2	UTSW	9	96,450,460 (GRCm39)	missense	probably damaging	1.00
R0238:Rasa2	UTSW	9	96,450,460 (GRCm39)	missense	probably damaging	1.00
R0295:Rasa2	UTSW	9	96,427,863 (GRCm39)	splice site	probably null
R0332:Rasa2	UTSW	9	96,488,229 (GRCm39)	missense	probably damaging	1.00
R0348:Rasa2	UTSW	9	96,454,012 (GRCm39)	missense	probably damaging	1.00
R0931:Rasa2	UTSW	9	96,434,457 (GRCm39)	missense	possibly damaging	0.88
R1067:Rasa2	UTSW	9	96,434,376 (GRCm39)	missense	probably damaging	1.00
R1485:Rasa2	UTSW	9	96,426,401 (GRCm39)	missense	probably benign	0.00
R1562:Rasa2	UTSW	9	96,427,803 (GRCm39)	missense	possibly damaging	0.89
R1698:Rasa2	UTSW	9	96,450,428 (GRCm39)	missense	possibly damaging	0.56
R1980:Rasa2	UTSW	9	96,452,821 (GRCm39)	missense	probably damaging	0.99
R3055:Rasa2	UTSW	9	96,493,526 (GRCm39)	missense	possibly damaging	0.77
R4175:Rasa2	UTSW	9	96,442,830 (GRCm39)	missense	probably benign	0.01
R4258:Rasa2	UTSW	9	96,439,433 (GRCm39)	intron	probably benign
R4432:Rasa2	UTSW	9	96,424,460 (GRCm39)	unclassified	probably benign
R4636:Rasa2	UTSW	9	96,426,390 (GRCm39)	missense	probably benign
R4773:Rasa2	UTSW	9	96,426,470 (GRCm39)	missense	probably benign
R4990:Rasa2	UTSW	9	96,474,042 (GRCm39)	missense	probably benign	0.24
R5177:Rasa2	UTSW	9	96,426,844 (GRCm39)	nonsense	probably null
R5462:Rasa2	UTSW	9	96,453,971 (GRCm39)	missense	probably damaging	1.00
R5737:Rasa2	UTSW	9	96,452,718 (GRCm39)	critical splice donor site	probably null
R5775:Rasa2	UTSW	9	96,459,521 (GRCm39)	splice site	probably null
R5866:Rasa2	UTSW	9	96,427,823 (GRCm39)	missense	probably benign	0.00
R5938:Rasa2	UTSW	9	96,493,442 (GRCm39)	missense	possibly damaging	0.50
R6076:Rasa2	UTSW	9	96,427,699 (GRCm39)	missense	probably benign
R6216:Rasa2	UTSW	9	96,426,357 (GRCm39)	missense	probably damaging	1.00
R6743:Rasa2	UTSW	9	96,493,493 (GRCm39)	missense	probably damaging	1.00
R6982:Rasa2	UTSW	9	96,442,803 (GRCm39)	missense	probably damaging	1.00
R7350:Rasa2	UTSW	9	96,426,408 (GRCm39)	missense	probably benign	0.16
R7405:Rasa2	UTSW	9	96,448,080 (GRCm39)	missense	probably benign	0.09
R7421:Rasa2	UTSW	9	96,493,500 (GRCm39)	missense	unknown
R7490:Rasa2	UTSW	9	96,448,175 (GRCm39)	missense	possibly damaging	0.48
R7515:Rasa2	UTSW	9	96,434,353 (GRCm39)	splice site	probably null
R7547:Rasa2	UTSW	9	96,493,474 (GRCm39)	missense	probably damaging	1.00
R7557:Rasa2	UTSW	9	96,439,478 (GRCm39)	missense	probably damaging	0.98
R7821:Rasa2	UTSW	9	96,462,537 (GRCm39)	splice site	probably null
R7894:Rasa2	UTSW	9	96,484,780 (GRCm39)	missense	probably benign	0.13
R8089:Rasa2	UTSW	9	96,435,177 (GRCm39)	missense	probably benign	0.00
R8193:Rasa2	UTSW	9	96,484,791 (GRCm39)	missense	probably damaging	0.97
R8827:Rasa2	UTSW	9	96,434,403 (GRCm39)	missense	probably damaging	1.00
R8847:Rasa2	UTSW	9	96,458,402 (GRCm39)	missense	possibly damaging	0.51
R9043:Rasa2	UTSW	9	96,484,770 (GRCm39)	missense	probably damaging	1.00
R9672:Rasa2	UTSW	9	96,427,781 (GRCm39)	missense	probably damaging	1.00
RF017:Rasa2	UTSW	9	96,513,521 (GRCm39)	small insertion	probably benign
RF029:Rasa2	UTSW	9	96,513,520 (GRCm39)	small insertion	probably benign
RF047:Rasa2	UTSW	9	96,513,520 (GRCm39)	small insertion	probably benign

Posted On

2012-04-20