Incidental Mutation 'R3899:Rasa3'
ID 308868
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 040809-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3899 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13617218-13727590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13628635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 608 (H608Y)
Ref Sequence ENSEMBL: ENSMUSP00000112998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117551]
AlphaFold Q60790
Predicted Effect probably benign
Transcript: ENSMUST00000117551
AA Change: H608Y

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: H608Y

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: ENSMUST00000127418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137822
Meta Mutation Damage Score 0.0940 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,399,157 (GRCm39) probably benign Het
Ahctf1 A G 1: 179,605,345 (GRCm39) S730P possibly damaging Het
Ankrd26 T A 6: 118,526,389 (GRCm39) R327S probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apob A T 12: 8,065,849 (GRCm39) I4273F possibly damaging Het
Ascl1 G T 10: 87,328,435 (GRCm39) H172Q probably benign Het
Azi2 A G 9: 117,876,571 (GRCm39) Y29C probably damaging Het
Baz1a A G 12: 54,981,589 (GRCm39) M355T probably benign Het
Brs3 G A X: 56,092,616 (GRCm39) V367M possibly damaging Het
Ccdc33 T C 9: 57,940,200 (GRCm39) D524G probably damaging Het
Cd300lf T C 11: 115,015,177 (GRCm39) T138A probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Ces1g T C 8: 94,029,678 (GRCm39) Y518C probably damaging Het
Chek2 C T 5: 111,013,479 (GRCm39) probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cntnap2 A T 6: 45,968,837 (GRCm39) H193L probably benign Het
Crim1 C A 17: 78,588,783 (GRCm39) T286N probably benign Het
Cwc27 T A 13: 104,929,023 (GRCm39) K307* probably null Het
Dbx2 T C 15: 95,530,313 (GRCm39) D218G possibly damaging Het
Dclk1 G A 3: 55,154,750 (GRCm39) R60Q probably damaging Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dpp10 A T 1: 123,281,286 (GRCm39) W588R probably damaging Het
Epg5 G A 18: 78,000,725 (GRCm39) E554K probably damaging Het
Eya1 T C 1: 14,340,971 (GRCm39) T139A probably benign Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Foxd3 A G 4: 99,545,736 (GRCm39) Y292C unknown Het
Gli1 C T 10: 127,172,535 (GRCm39) M202I possibly damaging Het
Gm973 T C 1: 59,664,299 (GRCm39) Y634H probably benign Het
Gpr132 G T 12: 112,815,728 (GRCm39) A366E probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 C T 15: 65,902,372 (GRCm39) M201I probably benign Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,388,372 (GRCm39) V2351A unknown Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mtr A T 13: 12,231,735 (GRCm39) N656K probably benign Het
Mtus1 T C 8: 41,536,166 (GRCm39) T517A probably benign Het
Osgep G C 14: 51,162,200 (GRCm39) N12K probably damaging Het
Pcare A T 17: 72,057,155 (GRCm39) C841S probably benign Het
Prdx3 T A 19: 60,853,621 (GRCm39) T235S probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Slc30a5 T C 13: 100,954,655 (GRCm39) M170V probably benign Het
Slc4a9 T C 18: 36,668,616 (GRCm39) V732A probably benign Het
Slc7a2 C T 8: 41,358,590 (GRCm39) T311M possibly damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Stk32b A G 5: 37,614,498 (GRCm39) S337P probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Tmem45a T C 16: 56,627,101 (GRCm39) E256G probably damaging Het
Tox4 T A 14: 52,517,299 (GRCm39) Y10N probably damaging Het
Trpm3 A G 19: 22,878,524 (GRCm39) M642V possibly damaging Het
Ttll10 T C 4: 156,120,257 (GRCm39) T508A probably damaging Het
Tut7 T A 13: 59,937,069 (GRCm39) K791* probably null Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Vmn2r97 T C 17: 19,167,873 (GRCm39) I709T probably damaging Het
Zfp936 T A 7: 42,839,158 (GRCm39) N207K possibly damaging Het
Zfp946 T G 17: 22,673,531 (GRCm39) I95S probably benign Het
Zhx3 A T 2: 160,622,371 (GRCm39) S599T possibly 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
R2655:Rasa3 UTSW 8 13,645,373 (GRCm39) missense possibly damaging 0.46
R3703:Rasa3 UTSW 8 13,638,972 (GRCm39) missense probably benign
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'- TCGGTACCCTCTGGTTCTATGG -3'
(R):5'- GTTCTAGTACCACTGCCCAC -3'

Sequencing Primer
(F):5'- ACCCTCTGGTTCTATGGGGAGG -3'
(R):5'- CGTGGCTCGTGAGGACAGAG -3'
Posted On 2015-04-17