Incidental Mutation 'R0193:Rasa3'
ID 23229
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 038452-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0193 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13617218-13727590 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 13620233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117551]
AlphaFold Q60790
Predicted Effect probably null
Transcript: ENSMUST00000117551
SMART Domains Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453

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: ENSMUST00000137822
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.7%
  • 20x: 85.3%
Validation Efficiency 95% (186/196)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,444,005 (GRCm39) S96P probably damaging Het
Akr1c20 A G 13: 4,561,292 (GRCm39) probably benign Het
Atp2a3 G T 11: 72,863,046 (GRCm39) V99L possibly damaging Het
Atp6v0a1 T A 11: 100,939,308 (GRCm39) I691N possibly damaging Het
Atp8b1 C T 18: 64,694,707 (GRCm39) R525Q probably benign Het
Aurkb A G 11: 68,939,370 (GRCm39) D151G probably damaging Het
Bank1 A T 3: 135,772,279 (GRCm39) probably benign Het
Bcl9l T C 9: 44,418,703 (GRCm39) L847P probably damaging Het
Bscl2 T A 19: 8,824,793 (GRCm39) M292K probably benign Het
Cacna1c C T 6: 118,579,363 (GRCm39) probably benign Het
Cadps2 T C 6: 23,599,439 (GRCm39) K260R probably benign Het
Cc2d2a T C 5: 43,893,460 (GRCm39) S1419P probably damaging Het
Ccdc180 G A 4: 45,914,803 (GRCm39) E145K probably benign Het
Ccno C T 13: 113,125,418 (GRCm39) probably benign Het
Cd300a A G 11: 114,784,202 (GRCm39) D70G probably benign Het
Cenpc1 T C 5: 86,180,262 (GRCm39) D670G probably benign Het
Cenpl A G 1: 160,913,558 (GRCm39) I323V probably damaging Het
Cfap44 A G 16: 44,269,573 (GRCm39) probably null Het
Cfap74 C T 4: 155,510,572 (GRCm39) R386C probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clcnkb T C 4: 141,139,627 (GRCm39) E125G possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Coro7 G A 16: 4,445,368 (GRCm39) probably benign Het
Dchs1 C T 7: 105,414,190 (GRCm39) R875H probably benign Het
Eif3j1 A C 2: 121,882,508 (GRCm39) M239L probably benign Het
Eif4g3 G T 4: 137,873,687 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Erbb4 T C 1: 68,083,119 (GRCm39) probably benign Het
Erlin2 T G 8: 27,521,792 (GRCm39) V164G possibly damaging Het
Fbxo43 G T 15: 36,162,029 (GRCm39) Q393K probably benign Het
Fcgr4 A T 1: 170,853,329 (GRCm39) N178I possibly damaging Het
Grid2 A G 6: 64,040,937 (GRCm39) N293S possibly damaging Het
H2-M1 C T 17: 36,982,224 (GRCm39) V126I probably benign Het
Htr1f T A 16: 64,747,112 (GRCm39) Y60F probably damaging Het
Ilf2 A G 3: 90,388,646 (GRCm39) probably null Het
Impg2 A T 16: 56,085,412 (GRCm39) K931* probably null Het
Ints1 T C 5: 139,737,485 (GRCm39) E2176G probably damaging Het
Iqsec2 T C X: 151,006,399 (GRCm39) V1319A probably benign Het
Iqsec3 G T 6: 121,387,683 (GRCm39) D685E probably damaging Het
Itgbl1 G A 14: 124,083,958 (GRCm39) V279I probably benign Het
Kdm4b C T 17: 56,700,952 (GRCm39) A541V probably benign Het
Kif14 A T 1: 136,396,176 (GRCm39) T161S probably benign Het
Krt86 T C 15: 101,377,244 (GRCm39) probably benign Het
Kyat1 C T 2: 30,077,198 (GRCm39) probably null Het
Limch1 T C 5: 67,184,882 (GRCm39) W791R probably damaging Het
Map3k11 T A 19: 5,745,874 (GRCm39) M396K probably damaging Het
Mat2a A G 6: 72,413,178 (GRCm39) probably null Het
Mbnl2 A G 14: 120,616,649 (GRCm39) I88V possibly damaging Het
Mib2 T C 4: 155,740,130 (GRCm39) T708A probably benign Het
Mix23 T C 16: 35,903,184 (GRCm39) S59P probably damaging Het
Mkks T C 2: 136,719,526 (GRCm39) probably null Het
Mtss1 T C 15: 58,815,866 (GRCm39) M565V probably damaging Het
Myoc A G 1: 162,476,604 (GRCm39) N436S probably damaging Het
Myod1 T A 7: 46,026,536 (GRCm39) V147E probably damaging Het
Ngef A G 1: 87,437,056 (GRCm39) L144P probably benign Het
Ngrn C T 7: 79,911,678 (GRCm39) R92W probably damaging Het
Nup153 G A 13: 46,863,130 (GRCm39) T349I probably benign Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or52ad1 G T 7: 102,995,411 (GRCm39) S241R possibly damaging Het
Pigl A G 11: 62,394,574 (GRCm39) I135M probably damaging Het
Pitpnm3 A G 11: 71,961,318 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,429,141 (GRCm39) F2420I probably damaging Het
Polr2b C T 5: 77,467,923 (GRCm39) T119M probably damaging Het
Prr29 A G 11: 106,267,722 (GRCm39) Y130C probably damaging Het
Rab11fip3 T C 17: 26,209,973 (GRCm39) I1048V probably damaging Het
Rab12 G A 17: 66,807,357 (GRCm39) T124I probably damaging Het
Rab44 A G 17: 29,359,281 (GRCm39) S490G probably benign Het
Rhbdl3 C T 11: 80,244,400 (GRCm39) S369L possibly damaging Het
Rimbp2 A T 5: 128,865,420 (GRCm39) S643T probably benign Het
Rin1 T G 19: 5,102,680 (GRCm39) S396R probably damaging Het
Rpusd3 C T 6: 113,396,198 (GRCm39) G28S probably damaging Het
Rtl9 T A X: 141,883,274 (GRCm39) S229T probably damaging Het
Rufy1 G T 11: 50,280,679 (GRCm39) T701N probably benign Het
Scn4a A T 11: 106,211,364 (GRCm39) L1551* probably null Het
Sec24b T C 3: 129,782,633 (GRCm39) N1119S probably null Het
Serbp1 T A 6: 67,249,868 (GRCm39) *75R probably null Het
Setx C T 2: 29,069,685 (GRCm39) P2497S probably benign Het
Slc26a11 A T 11: 119,250,140 (GRCm39) I132F probably damaging Het
Slc4a1 A G 11: 102,243,510 (GRCm39) V707A possibly damaging Het
Slfn1 A G 11: 83,012,669 (GRCm39) I262V probably damaging Het
Tmem168 T A 6: 13,583,312 (GRCm39) D523V possibly damaging Het
Traf7 G T 17: 24,729,525 (GRCm39) Q469K probably benign Het
Trdmt1 C A 2: 13,549,428 (GRCm39) V6F probably damaging Het
Tsacc A T 3: 88,194,395 (GRCm39) probably benign Het
Vmn2r5 A G 3: 64,398,951 (GRCm39) I589T possibly damaging Het
Vmn2r7 T C 3: 64,598,460 (GRCm39) D699G probably damaging Het
Vmn2r82 T C 10: 79,217,129 (GRCm39) V487A probably damaging Het
Zbtb47 T C 9: 121,596,732 (GRCm39) V696A probably damaging Het
Zfp287 A T 11: 62,605,855 (GRCm39) S351T probably benign Het
Zfp654 T C 16: 64,606,051 (GRCm39) H176R 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
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
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'- AGGCTCCTTCTAAGGCCCTAAACTG -3'
(R):5'- AATCCTGAGCTACACCCCGTACTG -3'

Sequencing Primer
(F):5'- TAAGGCCCTAAACTGGGCTG -3'
(R):5'- GGCAGCAAGTCTGTGTATGAC -3'
Posted On 2013-04-16