Mutagenetix > Incidental Mutation

Incidental Mutation 'R4636:Rasa2'

350737

Institutional Source

Beutler Lab

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 #

R4636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96421353-96513665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96426390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 819 (D819N)

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: D819N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: D819N

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: ENSMUST00000188853

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcs	T	C	1: 172,721,989 (GRCm39)	E119G	probably damaging	Het
Arhgef5	A	G	6: 43,251,876 (GRCm39)	T876A	probably benign	Het
Arih2	A	T	9: 108,491,013 (GRCm39)	C227S	probably damaging	Het
Bsn	A	T	9: 107,992,623 (GRCm39)	L1043Q	probably damaging	Het
Cyp2d34	G	C	15: 82,504,929 (GRCm39)	P44A	probably damaging	Het
Ddx59	T	A	1: 136,360,301 (GRCm39)	N438K	probably damaging	Het
Esr2	A	G	12: 76,170,098 (GRCm39)	M447T	possibly damaging	Het
Fam131b	A	G	6: 42,297,914 (GRCm39)	S92P	probably damaging	Het
Galnt9	A	G	5: 110,763,365 (GRCm39)	M457V	probably damaging	Het
Gorasp2	T	A	2: 70,509,836 (GRCm39)	Y166N	probably damaging	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lrp2	T	C	2: 69,266,983 (GRCm39)	E4308G	possibly damaging	Het
Mrpl1	G	T	5: 96,358,034 (GRCm39)	V5L	probably benign	Het
Nifk	T	A	1: 118,257,217 (GRCm39)	Y117N	possibly damaging	Het
Notch2	A	G	3: 98,053,420 (GRCm39)	K2028E	probably benign	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Prpf3	A	G	3: 95,741,482 (GRCm39)	F558S	probably damaging	Het
Rabgap1l	T	C	1: 160,169,660 (GRCm39)		probably null	Het
Rbl1	T	A	2: 157,009,340 (GRCm39)	T732S	possibly damaging	Het
Slc14a2	A	G	18: 78,239,007 (GRCm39)	V204A	possibly damaging	Het
Ttn	A	C	2: 76,643,937 (GRCm39)	L13097R	probably damaging	Het
Wdpcp	A	G	11: 21,661,568 (GRCm39)	E280G	probably benign	Het
Znhit6	G	T	3: 145,306,334 (GRCm39)	V280L	probably null	Het
Znhit6	A	G	3: 145,306,333 (GRCm39)		silent	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGCACTGACAGAAAGGATG -3'
(R):5'- CCTGTGCTCTTGTCAAAGAAAC -3'

Sequencing Primer
(F):5'- AAAGGATGGCTGGCCTGC -3'
(R):5'- AATTACACTACAGATTACACTTGTGG -3'

Posted On

2015-10-08