Incidental Mutation 'R2655:Rasa3'
ID 252660
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 040430-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2655 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13617218-13727590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13645373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 189 (T189A)
Ref Sequence ENSEMBL: ENSMUSP00000112998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117551] [ENSMUST00000154454]
AlphaFold Q60790
Predicted Effect possibly damaging
Transcript: ENSMUST00000117551
AA Change: T189A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: T189A

DomainStartEndE-ValueType
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: ENSMUST00000132439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132637
Predicted Effect probably benign
Transcript: ENSMUST00000154454
Meta Mutation Damage Score 0.4465 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T A 12: 84,122,650 (GRCm39) S411R probably benign Het
Adamts12 A T 15: 11,065,174 (GRCm39) N20Y possibly damaging Het
Bbs9 G A 9: 22,415,348 (GRCm39) E91K probably damaging Het
Casp4 C A 9: 5,322,894 (GRCm39) L57I possibly damaging Het
Cat T C 2: 103,302,191 (GRCm39) K169E probably damaging Het
Cav1 A G 6: 17,339,359 (GRCm39) Y148C probably damaging Het
Cep112 T C 11: 108,328,027 (GRCm39) probably benign Het
Chaf1b T C 16: 93,688,399 (GRCm39) S165P probably damaging Het
Crat A G 2: 30,292,703 (GRCm39) S115P probably damaging Het
Eif2b1 A G 5: 124,714,917 (GRCm39) S120P probably damaging Het
Epor A G 9: 21,872,016 (GRCm39) S236P probably damaging Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Igfbpl1 T C 4: 45,816,289 (GRCm39) T179A probably damaging Het
Ighv14-4 T G 12: 114,140,068 (GRCm39) Y114S probably damaging Het
Ipcef1 T C 10: 6,929,657 (GRCm39) I29V probably benign Het
Junb A G 8: 85,704,137 (GRCm39) S308P probably damaging Het
Kcnh5 T C 12: 75,161,314 (GRCm39) E198G probably damaging Het
Ltbp1 G A 17: 75,312,978 (GRCm39) R33H possibly damaging Het
Map3k20 C A 2: 72,263,764 (GRCm39) T471K probably damaging Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Odad4 T A 11: 100,444,405 (GRCm39) W237R probably damaging Het
Or51a10 T C 7: 103,698,638 (GRCm39) M308V probably benign Het
Or8g35 A T 9: 39,381,924 (GRCm39) S33T probably benign Het
Patj T C 4: 98,325,687 (GRCm39) V508A possibly damaging Het
Pkd1 T C 17: 24,795,464 (GRCm39) V2319A probably damaging Het
Pnpla7 A G 2: 24,942,330 (GRCm39) Y83C probably damaging Het
Prb1a G C 6: 132,187,425 (GRCm39) Q19E unknown Het
Reck T A 4: 43,938,966 (GRCm39) D777E probably benign Het
Rfx6 A G 10: 51,569,873 (GRCm39) probably benign Het
Serpinb13 A G 1: 106,928,157 (GRCm39) D259G probably damaging Het
Slit2 G A 5: 48,346,917 (GRCm39) R253Q possibly damaging Het
Slu7 A G 11: 43,331,475 (GRCm39) E203G probably benign Het
Syt4 A T 18: 31,576,597 (GRCm39) D252E probably benign Het
Tpte A G 8: 22,801,294 (GRCm39) probably null Het
Ttll7 A G 3: 146,653,376 (GRCm39) Y729C probably damaging Het
Usp35 T A 7: 96,961,354 (GRCm39) T691S probably benign Het
Vmn1r211 A G 13: 23,036,586 (GRCm39) V27A probably benign Het
Vmn2r72 T C 7: 85,400,477 (GRCm39) T191A possibly damaging Het
Vwa5b1 C T 4: 138,321,614 (GRCm39) G393D probably damaging Het
Other mutations in Rasa3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2374:Rasa3 UTSW 8 13,627,411 (GRCm39) missense probably damaging 1.00
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'- AGACACTTGGCTTTGGTCTC -3'
(R):5'- CCTGCTTTACATACCATCTGGG -3'

Sequencing Primer
(F):5'- TCTCCTGAGACTGAGGGAATCTC -3'
(R):5'- CTTTACATACCATCTGGGAGTGGAG -3'
Posted On 2014-12-04