Mutagenetix > Incidental Mutation

Incidental Mutation 'R2374:Rasa3'

248234

Institutional Source

Beutler Lab

Gene Symbol

Rasa3

Ensembl Gene

ENSMUSG00000031453

Gene Name

RAS p21 protein activator 3

Synonyms

GAPIII activator 3, Ras GTPase-activating protein III, scat, hlb381, GAPIII, R-Ras gap

MMRRC Submission

040353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2374 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

13617218-13727590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13627411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 697 (L697P)

Ref Sequence

ENSEMBL: ENSMUSP00000112998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117551]

AlphaFold

Q60790

Predicted Effect

probably damaging
Transcript: ENSMUST00000117551
AA Change: L697P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: L697P

Domain	Start	End	E-Value	Type
C2	13	111	2.29e-15	SMART
C2	146	262	1.03e-17	SMART
RasGAP	275	614	3.96e-166	SMART
PH	577	679	5.53e-16	SMART
BTK	679	715	9.16e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137822

Meta Mutation Damage Score

0.8384

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.7%

Validation Efficiency

97% (33/34)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	C	T	18: 80,174,202 (GRCm39)	R69Q	probably damaging	Het
Bltp1	A	G	3: 36,939,545 (GRCm39)	D133G	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Clec4b1	T	G	6: 123,027,597 (GRCm39)	L18R	probably damaging	Het
Cntrl	G	A	2: 35,043,288 (GRCm39)	V706I	possibly damaging	Het
Dhx30	A	G	9: 109,920,632 (GRCm39)	L294P	probably damaging	Het
Dnaaf9	A	G	2: 130,662,494 (GRCm39)	Y60H	probably damaging	Het
Dysf	T	C	6: 84,074,711 (GRCm39)	L504P	probably damaging	Het
Gm10754	A	G	10: 97,518,013 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,764 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,291,780 (GRCm39)	N3424S	probably damaging	Het
Itgb2	G	A	10: 77,395,515 (GRCm39)	V539I	probably benign	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Ly6e	A	G	15: 74,830,470 (GRCm39)	S107G	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Myo15a	T	G	11: 60,369,669 (GRCm39)	S810A	possibly damaging	Het
Neb	A	G	2: 52,153,669 (GRCm39)	W2419R	probably damaging	Het
Nkpd1	A	T	7: 19,257,900 (GRCm39)	T560S	possibly damaging	Het
Or2n1c	T	C	17: 38,519,958 (GRCm39)	M274T	probably damaging	Het
Or4b1b	A	T	2: 90,112,795 (GRCm39)	S41R	possibly damaging	Het
Sptbn4	A	G	7: 27,059,517 (GRCm39)	Y2443H	probably damaging	Het
Steap2	A	G	5: 5,725,845 (GRCm39)	I393T	probably damaging	Het
Tbc1d12	T	A	19: 38,825,614 (GRCm39)	L155Q	possibly damaging	Het
Tnni3k	A	T	3: 154,492,422 (GRCm39)	M816K	probably benign	Het
Ugt2a3	T	C	5: 87,475,050 (GRCm39)	D398G	probably damaging	Het
Vmn1r25	A	T	6: 57,955,543 (GRCm39)	S249T	probably benign	Het
Vmn2r17	C	A	5: 109,575,104 (GRCm39)	P137Q	probably benign	Het
Zbtb26	A	G	2: 37,326,497 (GRCm39)	S180P	probably benign	Het
Zfy1	A	T	Y: 726,391 (GRCm39)	L458Q	probably damaging	Het
Zfy1	G	C	Y: 726,392 (GRCm39)	L458V	possibly damaging	Het
Zmpste24	T	C	4: 120,931,734 (GRCm39)	E297G	probably benign	Het

Other mutations in Rasa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Rasa3	APN	8	13,645,410 (GRCm39)	unclassified	probably benign
IGL02112:Rasa3	APN	8	13,635,042 (GRCm39)	splice site	probably benign
IGL02946:Rasa3	APN	8	13,648,280 (GRCm39)	missense	probably benign	0.33
IGL03085:Rasa3	APN	8	13,635,690 (GRCm39)	missense	probably benign	0.11
Box_canyon	UTSW	8	13,634,959 (GRCm39)	nonsense	probably null
Erasor	UTSW	8	13,636,873 (GRCm39)	critical splice donor site	probably null
koko_head	UTSW	8	13,664,605 (GRCm39)	missense	possibly damaging	0.70
Mount_ouray	UTSW	8	13,681,811 (GRCm39)	missense	possibly damaging	0.90
Poncha_pass	UTSW	8	13,645,373 (GRCm39)	missense	possibly damaging	0.46
Tabula	UTSW	8	13,635,029 (GRCm39)	missense	probably damaging	1.00
Ute	UTSW	8	13,632,381 (GRCm39)	splice site	probably benign
PIT4531001:Rasa3	UTSW	8	13,655,887 (GRCm39)	missense	probably benign	0.11
R0193:Rasa3	UTSW	8	13,620,233 (GRCm39)	splice site	probably null
R0710:Rasa3	UTSW	8	13,633,830 (GRCm39)	missense	probably damaging	1.00
R0726:Rasa3	UTSW	8	13,630,118 (GRCm39)	splice site	probably benign
R1405:Rasa3	UTSW	8	13,638,027 (GRCm39)	missense	possibly damaging	0.83
R1405:Rasa3	UTSW	8	13,638,027 (GRCm39)	missense	possibly damaging	0.83
R1797:Rasa3	UTSW	8	13,632,372 (GRCm39)	missense	probably benign	0.44
R1828:Rasa3	UTSW	8	13,635,035 (GRCm39)	missense	probably benign	0.02
R1895:Rasa3	UTSW	8	13,681,768 (GRCm39)	splice site	probably benign
R2090:Rasa3	UTSW	8	13,632,381 (GRCm39)	splice site	probably benign
R2655:Rasa3	UTSW	8	13,645,373 (GRCm39)	missense	possibly damaging	0.46
R3703:Rasa3	UTSW	8	13,638,972 (GRCm39)	missense	probably benign
R3899:Rasa3	UTSW	8	13,628,635 (GRCm39)	missense	probably benign	0.21
R4230:Rasa3	UTSW	8	13,620,264 (GRCm39)	missense	possibly damaging	0.47
R4256:Rasa3	UTSW	8	13,664,532 (GRCm39)	critical splice donor site	probably null
R4281:Rasa3	UTSW	8	13,638,946 (GRCm39)	missense	probably benign	0.01
R4498:Rasa3	UTSW	8	13,664,587 (GRCm39)	missense	probably benign	0.01
R4558:Rasa3	UTSW	8	13,648,259 (GRCm39)	missense	probably damaging	0.96
R4559:Rasa3	UTSW	8	13,648,259 (GRCm39)	missense	probably damaging	0.96
R4647:Rasa3	UTSW	8	13,638,865 (GRCm39)	missense	probably null	0.00
R4702:Rasa3	UTSW	8	13,620,394 (GRCm39)	missense	probably benign	0.09
R4772:Rasa3	UTSW	8	13,648,289 (GRCm39)	missense	probably damaging	1.00
R4774:Rasa3	UTSW	8	13,627,501 (GRCm39)	missense	probably benign	0.07
R4807:Rasa3	UTSW	8	13,664,633 (GRCm39)	missense	probably damaging	1.00
R5008:Rasa3	UTSW	8	13,634,959 (GRCm39)	nonsense	probably null
R5043:Rasa3	UTSW	8	13,620,368 (GRCm39)	missense	possibly damaging	0.59
R5352:Rasa3	UTSW	8	13,681,778 (GRCm39)	missense	possibly damaging	0.88
R5435:Rasa3	UTSW	8	13,681,811 (GRCm39)	missense	possibly damaging	0.90
R6207:Rasa3	UTSW	8	13,648,251 (GRCm39)	missense	possibly damaging	0.67
R6733:Rasa3	UTSW	8	13,630,037 (GRCm39)	missense	possibly damaging	0.88
R6855:Rasa3	UTSW	8	13,635,029 (GRCm39)	missense	probably damaging	1.00
R7024:Rasa3	UTSW	8	13,681,826 (GRCm39)	missense	probably benign	0.29
R7100:Rasa3	UTSW	8	13,636,897 (GRCm39)	missense	probably benign	0.02
R7322:Rasa3	UTSW	8	13,645,857 (GRCm39)	missense	possibly damaging	0.46
R7394:Rasa3	UTSW	8	13,645,353 (GRCm39)	missense	probably benign	0.03
R7478:Rasa3	UTSW	8	13,664,605 (GRCm39)	missense	possibly damaging	0.70
R7486:Rasa3	UTSW	8	13,640,201 (GRCm39)	critical splice donor site	probably null
R7554:Rasa3	UTSW	8	13,645,390 (GRCm39)	missense	probably damaging	0.99
R7575:Rasa3	UTSW	8	13,645,887 (GRCm39)	missense	possibly damaging	0.73
R7641:Rasa3	UTSW	8	13,634,961 (GRCm39)	missense	probably benign	0.11
R7667:Rasa3	UTSW	8	13,638,015 (GRCm39)	missense	probably benign	0.27
R7751:Rasa3	UTSW	8	13,618,708 (GRCm39)	missense	probably benign	0.18
R7999:Rasa3	UTSW	8	13,681,805 (GRCm39)	missense	probably benign	0.04
R8039:Rasa3	UTSW	8	13,638,931 (GRCm39)	missense	probably damaging	1.00
R8125:Rasa3	UTSW	8	13,627,801 (GRCm39)	splice site	probably null
R8514:Rasa3	UTSW	8	13,631,322 (GRCm39)	missense	probably benign	0.02
R8726:Rasa3	UTSW	8	13,626,381 (GRCm39)	missense	probably benign	0.00
R8728:Rasa3	UTSW	8	13,636,873 (GRCm39)	critical splice donor site	probably null
R8790:Rasa3	UTSW	8	13,727,391 (GRCm39)	critical splice donor site	probably null
R9036:Rasa3	UTSW	8	13,645,851 (GRCm39)	missense	probably benign	0.06
R9483:Rasa3	UTSW	8	13,630,033 (GRCm39)	critical splice donor site	probably null
R9602:Rasa3	UTSW	8	13,681,844 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTGGAAGACCACACCAAGGG -3'
(R):5'- TAATAGCTCCTGACCCATCCTG -3'

Sequencing Primer
(F):5'- AGAACAGCTCTGTGCCCGTG -3'
(R):5'- CTGTGTGCCCAGATGTTCCAG -3'

Posted On

2014-11-11