Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Rasa2'

13757

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: 0.196) question?

Stock #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

96421353-96513665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96452772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 371 (N371K)

Ref Sequence

ENSEMBL: ENSMUSP00000034984 (fasta)

Gene Model

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

AlphaFold

P58069

Predicted Effect

probably benign
Transcript: ENSMUST00000034984
AA Change: N371K

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: N371K

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: ENSMUST00000144376

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Cimap1c	A	G	9: 56,758,975 (GRCm39)	I60T	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Kansl1l	T	C	1: 66,840,671 (GRCm39)	T210A	probably benign	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Sec23ip	C	A	7: 128,369,333 (GRCm39)	L686I	probably damaging	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	possibly damaging	Het

Other mutations in Rasa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Rasa2	APN	9	96,426,913 (GRCm39)	missense	probably damaging	1.00
IGL00661:Rasa2	APN	9	96,459,606 (GRCm39)	splice site	probably benign
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

2012-12-06