Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Rasa2'

367687

Institutional Source

Beutler Lab

Gene Symbol

Rasa2

Ensembl Gene

ENSMUSG00000032413

Gene Name

RAS p21 protein activator 2

Synonyms

GAP1m, 5430433H21Rik

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

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

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96421353-96513665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96426470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 792 (G792D)

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: G792D

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

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: G792D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	A	G	11: 50,982,089 (GRCm39)		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972 (GRCm39)	I129V	probably benign	Het
Adipor2	A	G	6: 119,336,047 (GRCm39)	L225P	probably benign	Het
Arhgap25	A	G	6: 87,473,053 (GRCm39)	F35L	probably benign	Het
Asah2	A	T	19: 32,030,258 (GRCm39)	M138K	probably damaging	Het
Asxl1	T	A	2: 153,243,905 (GRCm39)	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,572,658 (GRCm39)	S114R	probably benign	Het
Brpf3	T	G	17: 29,040,233 (GRCm39)	S885A	probably benign	Het
Cacna1g	G	T	11: 94,302,298 (GRCm39)	H1944N	possibly damaging	Het
Cby2	T	A	14: 75,820,546 (GRCm39)	Y393F	probably damaging	Het
Ccdc110	G	A	8: 46,396,245 (GRCm39)	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,182,822 (GRCm39)	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,722,754 (GRCm39)	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,932,787 (GRCm39)	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,005,695 (GRCm39)	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,645,763 (GRCm39)	I81F	possibly damaging	Het
Dscc1	A	T	15: 54,943,654 (GRCm39)	D405E	probably benign	Het
Ece1	A	G	4: 137,672,464 (GRCm39)	D369G	probably benign	Het
Exd2	T	C	12: 80,522,592 (GRCm39)	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,565,772 (GRCm39)	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,038 (GRCm39)	V719A	possibly damaging	Het
Fscb	C	T	12: 64,520,464 (GRCm39)	G334D	probably damaging	Het
Glud1	T	C	14: 34,043,782 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,119,072 (GRCm39)	Y180*	probably null	Het
Grip2	G	A	6: 91,759,413 (GRCm39)	P347L	possibly damaging	Het
H1f3	T	C	13: 23,739,576 (GRCm39)	S105P	probably damaging	Het
H60b	C	T	10: 22,164,644 (GRCm39)		probably benign	Het
Iqca1l	A	G	5: 24,755,596 (GRCm39)		probably null	Het
Itga6	T	C	2: 71,652,788 (GRCm39)	V217A	probably benign	Het
Kndc1	G	A	7: 139,503,946 (GRCm39)	W1083*	probably null	Het
Limch1	A	T	5: 67,184,850 (GRCm39)	D613V	probably damaging	Het
Lpl	T	A	8: 69,349,403 (GRCm39)	C310S	probably damaging	Het
Marchf1	T	A	8: 66,839,876 (GRCm39)	C220S	probably benign	Het
Mbd5	A	C	2: 49,164,623 (GRCm39)	H308P	probably damaging	Het
Med13	T	C	11: 86,167,746 (GRCm39)	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mstn	A	T	1: 53,101,267 (GRCm39)	T115S	probably benign	Het
Mtcl2	G	T	2: 156,872,489 (GRCm39)	Q953K	probably benign	Het
Nfil3	A	G	13: 53,122,050 (GRCm39)	S285P	probably damaging	Het
Odad4	C	A	11: 100,440,742 (GRCm39)	N74K	probably benign	Het
Or10j3	A	C	1: 173,031,796 (GRCm39)	Y291S	probably damaging	Het
Or51a24	A	G	7: 103,733,502 (GRCm39)	S262P	probably damaging	Het
Otof	A	G	5: 30,552,026 (GRCm39)	V321A	probably benign	Het
Pcdha8	G	T	18: 37,127,626 (GRCm39)	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,623,507 (GRCm39)	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,979,051 (GRCm39)	D51G	probably benign	Het
Pdzd8	A	G	19: 59,289,292 (GRCm39)	Y703H	probably damaging	Het
Pecr	G	T	1: 72,306,594 (GRCm39)	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,902,114 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,051,150 (GRCm39)	H356Q	probably benign	Het
Polr1b	T	C	2: 128,947,248 (GRCm39)	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,049,026 (GRCm39)	L35P	possibly damaging	Het
Rps11-ps4	T	C	12: 51,344,406 (GRCm39)		noncoding transcript	Het
Sema3g	A	G	14: 30,942,666 (GRCm39)	D89G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slfn8	A	G	11: 82,908,219 (GRCm39)	V108A	probably damaging	Het
Smg9	T	A	7: 24,107,019 (GRCm39)	M221K	possibly damaging	Het
Sos1	A	G	17: 80,705,660 (GRCm39)	S1304P	probably damaging	Het
Sqle	C	A	15: 59,189,688 (GRCm39)	A110E	possibly damaging	Het
Stab2	G	A	10: 86,743,235 (GRCm39)	Q1154*	probably null	Het
Taf4b	A	G	18: 14,937,577 (GRCm39)	T217A	probably benign	Het
Tex15	T	C	8: 34,072,760 (GRCm39)	V2769A	probably benign	Het
Tmem156	A	T	5: 65,237,502 (GRCm39)	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,293,001 (GRCm39)	K452N	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	T	C	7: 46,306,376 (GRCm39)	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,852 (GRCm39)	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,874,606 (GRCm39)	T93I	probably damaging	Het
Ttn	T	A	2: 76,571,778 (GRCm39)	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,446,128 (GRCm39)	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,259,569 (GRCm39)	A126G	probably benign	Het
Vmn1r210	T	G	13: 23,011,374 (GRCm39)	K304T	probably benign	Het
Vps25	T	C	11: 101,149,655 (GRCm39)	S160P	probably benign	Het
Vrk3	T	A	7: 44,424,900 (GRCm39)	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,309,066 (GRCm39)	L708P	probably benign	Het
Washc3	C	T	10: 88,055,124 (GRCm39)	Q105*	probably null	Het
Wdr83os	T	A	8: 85,807,410 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,758,123 (GRCm39)	H741R	probably benign	Het
Zan	T	C	5: 137,434,575 (GRCm39)		probably benign	Het
Zdhhc4	A	T	5: 143,311,931 (GRCm39)	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,697,195 (GRCm39)	D38E	probably 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
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
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'- CGCTCAGCACTGACAGAAAG -3'
(R):5'- GTGAAGTTTACAAACCCTCAAAGGAG -3'

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

Posted On

2015-12-29