Incidental Mutation 'R7575:Rasa3'
ID 586342
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 045632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7575 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 13617218-13727590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13645887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 151 (I151N)
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: I151N

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: I151N

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 probably benign
Transcript: ENSMUST00000154454
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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
3425401B19Rik C T 14: 32,384,589 (GRCm39) V459I probably benign Het
4921539E11Rik T C 4: 103,088,192 (GRCm39) D439G probably damaging Het
Adam18 T C 8: 25,115,873 (GRCm39) N607S possibly damaging Het
Adamtsl3 A T 7: 82,223,756 (GRCm39) N1179I possibly damaging Het
Adarb1 A G 10: 77,139,129 (GRCm39) F552S probably damaging Het
Ago1 T C 4: 126,347,701 (GRCm39) E394G probably benign Het
Alb G A 5: 90,613,788 (GRCm39) C224Y probably damaging Het
Alms1 T A 6: 85,599,141 (GRCm39) H1322Q possibly damaging Het
Arhgef18 T G 8: 3,501,635 (GRCm39) V643G probably damaging Het
Asah2 T C 19: 31,994,103 (GRCm39) Q414R probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Bbc3 G A 7: 16,046,292 (GRCm39) R76H possibly damaging Het
Bub1b T A 2: 118,471,639 (GRCm39) S1000T possibly damaging Het
Bud23 A T 5: 135,089,982 (GRCm39) Y70* probably null Het
C1d A G 11: 17,212,694 (GRCm39) E13G probably damaging Het
Camk1 T A 6: 113,315,325 (GRCm39) I158F probably damaging Het
Ccr2 A C 9: 123,905,843 (GRCm39) D41A probably benign Het
Cdh18 G T 15: 23,400,683 (GRCm39) E348* probably null Het
Col6a3 A G 1: 90,738,321 (GRCm39) L1066P possibly damaging Het
Cyp11b1 T A 15: 74,711,162 (GRCm39) D172V probably benign Het
Cyp2j8 A G 4: 96,358,785 (GRCm39) I378T possibly damaging Het
Cys1 T A 12: 24,718,647 (GRCm39) K69* probably null Het
Dip2c A G 13: 9,678,048 (GRCm39) K1165E probably damaging Het
Drd3 A T 16: 43,637,496 (GRCm39) I232F probably benign Het
Dusp7 T C 9: 106,250,876 (GRCm39) C334R probably damaging Het
Eppk1 A G 15: 75,995,442 (GRCm39) S480P not run Het
Erc1 G T 6: 119,801,721 (GRCm39) P99T possibly damaging Het
Fam170b C T 14: 32,558,155 (GRCm39) P330L unknown Het
Fasn G T 11: 120,703,513 (GRCm39) T1573K possibly damaging Het
Fras1 A T 5: 96,691,173 (GRCm39) T130S probably benign Het
Fzd4 A G 7: 89,056,918 (GRCm39) I322V possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdpd4 A T 7: 97,647,448 (GRCm39) H365L probably benign Het
Gfy A G 7: 44,827,524 (GRCm39) S191P probably benign Het
Ghr A T 15: 3,349,994 (GRCm39) S395T probably damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Htt A G 5: 35,062,987 (GRCm39) D2873G probably damaging Het
Idua A T 5: 108,829,565 (GRCm39) D476V probably damaging Het
Inppl1 G A 7: 101,477,689 (GRCm39) R683W probably damaging Het
Ipp T C 4: 116,389,841 (GRCm39) S466P probably benign Het
Iqgap2 A G 13: 95,798,131 (GRCm39) V1058A probably damaging Het
Jmy A T 13: 93,601,103 (GRCm39) Y434* probably null Het
Kmt2d CTGCTGCTG CTGCTGCTGATGCTGCTG 15: 98,747,492 (GRCm39) probably benign Het
Mogs T G 6: 83,092,816 (GRCm39) S85R probably damaging Het
Mroh2b A T 15: 4,964,087 (GRCm39) D863V probably damaging Het
Mtmr10 A T 7: 63,947,213 (GRCm39) I43F probably damaging Het
Mtr T C 13: 12,213,963 (GRCm39) D903G probably benign Het
Ncor1 A G 11: 62,274,082 (GRCm39) V186A probably benign Het
Notch3 C T 17: 32,373,793 (GRCm39) D472N possibly damaging Het
Or4k44 A T 2: 111,368,597 (GRCm39) F12L probably damaging Het
Or6c68 T C 10: 129,157,728 (GRCm39) F79L probably damaging Het
Or8j3c A G 2: 86,253,582 (GRCm39) F146S probably benign Het
Or9i1 T C 19: 13,839,381 (GRCm39) S75P probably damaging Het
Oxr1 T G 15: 41,686,758 (GRCm39) L547V possibly damaging Het
Pappa2 A T 1: 158,642,100 (GRCm39) C1319S probably damaging Het
Papss1 A C 3: 131,348,857 (GRCm39) K623N probably damaging Het
Parp4 T C 14: 56,875,375 (GRCm39) F1198S probably benign Het
Pcare T A 17: 72,057,850 (GRCm39) Q609L probably damaging Het
Pcnt A T 10: 76,225,086 (GRCm39) V1806D probably benign Het
Pitx2 A T 3: 129,009,375 (GRCm39) H98L probably damaging Het
Polq C A 16: 36,911,496 (GRCm39) D2410E probably benign Het
Prdm9 C T 17: 15,764,890 (GRCm39) C630Y probably damaging Het
Preb A T 5: 31,115,839 (GRCm39) D201E probably damaging Het
Rasgrp2 T A 19: 6,454,397 (GRCm39) S147T probably damaging Het
Rev3l A G 10: 39,697,441 (GRCm39) D646G possibly damaging Het
Sdc1 A G 12: 8,840,619 (GRCm39) E128G probably damaging Het
Slamf7 A C 1: 171,466,762 (GRCm39) C148G probably damaging Het
Slc19a2 T C 1: 164,084,691 (GRCm39) S194P probably damaging Het
Spata31 C T 13: 65,070,726 (GRCm39) P958L unknown Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Stradb A G 1: 59,027,739 (GRCm39) I90V probably benign Het
Tas2r134 A G 2: 51,518,166 (GRCm39) D215G probably damaging Het
Tbc1d4 T C 14: 101,685,025 (GRCm39) K1209E probably damaging Het
Thbs1 A G 2: 117,953,409 (GRCm39) D942G probably damaging Het
Tmem107 C T 11: 68,963,633 (GRCm39) P139S probably benign Het
Tmem216 A T 19: 10,529,266 (GRCm39) M40K probably benign Het
Tpte A G 8: 22,845,498 (GRCm39) Y516C probably damaging Het
Trim54 G A 5: 31,291,431 (GRCm39) G184D possibly damaging Het
Try5 A T 6: 41,288,748 (GRCm39) L157Q probably benign Het
Ubqlnl G A 7: 103,797,697 (GRCm39) A600V probably damaging Het
Uhrf2 C A 19: 30,048,768 (GRCm39) P258Q probably damaging Het
Ush2a A T 1: 188,554,885 (GRCm39) E3554D possibly damaging Het
Usp40 A C 1: 87,877,682 (GRCm39) L1158W probably damaging Het
Vmn1r121 T A 7: 20,832,198 (GRCm39) R81* probably null Het
Vmn1r203 C A 13: 22,708,588 (GRCm39) T123K probably benign Het
Vmn2r101 T C 17: 19,831,654 (GRCm39) V550A probably benign Het
Wdr49 A T 3: 75,358,193 (GRCm39) M184K probably damaging Het
Wipi2 A G 5: 142,643,987 (GRCm39) N123S probably damaging Het
Zbtb14 T C 17: 69,694,442 (GRCm39) F47L probably damaging Het
Zc3h7b C A 15: 81,662,086 (GRCm39) S385* probably null Het
Zhx2 T A 15: 57,686,658 (GRCm39) F676I 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
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
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'- ACTTCAAAGTATACCTGCCCTC -3'
(R):5'- AGAGGGCTCGATACCCTAAGAC -3'

Sequencing Primer
(F):5'- GGCATCAAAGGGACAACT -3'
(R):5'- CGTAGTTTGATGAAGGCCACC -3'
Posted On 2019-10-24