Mutagenetix > Incidental Mutation

Incidental Mutation 'RF047:Rasa2'

605051

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 #

RF047 (G1)

Quality Score

154.475

Status

Not validated

Chromosome

Chromosomal Location

96421353-96513665 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CGC to CGCAGC at 96513520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115629 (fasta)

Gene Model

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

AlphaFold

P58069

Predicted Effect

probably benign
Transcript: ENSMUST00000034984

SMART Domains

Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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
Abcb4	AAGA	AA	5: 8,946,595 (GRCm39)		probably null	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,970 (GRCm39)		probably benign	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,976 (GRCm39)		probably benign	Het
Cd109	TTATTTAT	TTATTTATTTCTGTATTTAT	9: 78,619,809 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,973,818 (GRCm39)	G2832V	probably damaging	Het
Dnmt1	GAGCACAGTTCCTACCTCGTT	GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT	9: 20,821,421 (GRCm39)		probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,599 (GRCm39)		probably benign	Het
Gabre	GGCTC	GGCTCCTGCTC	X: 71,313,659 (GRCm39)		probably benign	Het
Gabre	C	CTGGCTA	X: 71,314,371 (GRCm39)		probably null	Het
Garin5a	GAGGGAGGA	GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA	7: 44,149,953 (GRCm39)		probably null	Het
Garin5a	G	GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT	7: 44,149,960 (GRCm39)		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Iqcf4	CCTTTTCC	CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC	9: 106,447,811 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,520,758 (GRCm39)		probably benign	Het
Mamld1	GCA	GCAACA	X: 70,162,445 (GRCm39)		probably benign	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nefh	GCCTCACCTGGGGACTTG	GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG	11: 4,891,038 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Pnma8a	TACCTCATGATGCACCTGCTTCAACA	TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,695,348 (GRCm39)		probably benign	Het
Rbm33	AGCAGCA	AGCAGCACCAGCCGCAGCA	5: 28,599,160 (GRCm39)		probably benign	Het
Smarca2	CAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCA	19: 26,608,405 (GRCm39)		probably benign	Het
Strn	GTGCTCCCTTACCCCAGTC	GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC	17: 78,984,699 (GRCm39)		probably null	Het
Strn	TCCCTTACCCCAGTC	TCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCCCCCTTACCCCAGTC	17: 78,984,703 (GRCm39)		probably null	Het
Tfeb	C	CAGA	17: 48,097,041 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,031 (GRCm39)		probably benign	Het
Tomm5	CATCTTCCG	CATCTTCCGAATCTTCCG	4: 45,107,974 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTAATTACCACGGGGCTC -3'
(R):5'- CGTCCAATTCTCAGGGTTCTG -3'

Sequencing Primer
(F):5'- AGTCTCACCAGTCCCGG -3'
(R):5'- TTCTGGGGATCACAGCAGG -3'

Posted On

2019-12-04