Incidental Mutation 'IGL00661:Rasa2'
ID 13758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene Name RAS p21 protein activator 2
Synonyms GAP1m, 5430433H21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL00661
Quality Score
Status
Chromosome 9
Chromosomal Location 96421353-96513665 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 96459606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
AlphaFold P58069
Predicted Effect probably benign
Transcript: ENSMUST00000034984
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
C2 38 136 3.78e-16 SMART
C2 171 287 8.48e-19 SMART
RasGAP 300 641 7.05e-140 SMART
PH 604 706 1.98e-17 SMART
BTK 706 742 1.39e-18 SMART
low complexity region 824 838 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128346
SMART Domains Protein: ENSMUSP00000115629
Gene: ENSMUSG00000032413

DomainStartEndE-ValueType
C2 3 79 6.86e-5 SMART
C2 114 230 8.48e-19 SMART
RasGAP 243 584 7.05e-140 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190537
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Rasa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Rasa2 APN 9 96,426,913 (GRCm39) missense probably damaging 1.00
IGL00825:Rasa2 APN 9 96,452,772 (GRCm39) missense probably benign 0.37
IGL01645:Rasa2 APN 9 96,464,834 (GRCm39) nonsense probably null
IGL02260:Rasa2 APN 9 96,426,372 (GRCm39) missense probably benign 0.08
IGL02568:Rasa2 APN 9 96,462,563 (GRCm39) missense probably damaging 1.00
IGL02963:Rasa2 APN 9 96,452,838 (GRCm39) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,454,016 (GRCm39) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,454,016 (GRCm39) missense probably damaging 1.00
R0144:Rasa2 UTSW 9 96,474,072 (GRCm39) missense probably damaging 0.99
R0238:Rasa2 UTSW 9 96,450,460 (GRCm39) missense probably damaging 1.00
R0238:Rasa2 UTSW 9 96,450,460 (GRCm39) missense probably damaging 1.00
R0295:Rasa2 UTSW 9 96,427,863 (GRCm39) splice site probably null
R0332:Rasa2 UTSW 9 96,488,229 (GRCm39) missense probably damaging 1.00
R0348:Rasa2 UTSW 9 96,454,012 (GRCm39) missense probably damaging 1.00
R0931:Rasa2 UTSW 9 96,434,457 (GRCm39) missense possibly damaging 0.88
R1067:Rasa2 UTSW 9 96,434,376 (GRCm39) missense probably damaging 1.00
R1485:Rasa2 UTSW 9 96,426,401 (GRCm39) missense probably benign 0.00
R1562:Rasa2 UTSW 9 96,427,803 (GRCm39) missense possibly damaging 0.89
R1698:Rasa2 UTSW 9 96,450,428 (GRCm39) missense possibly damaging 0.56
R1980:Rasa2 UTSW 9 96,452,821 (GRCm39) missense probably damaging 0.99
R3055:Rasa2 UTSW 9 96,493,526 (GRCm39) missense possibly damaging 0.77
R4175:Rasa2 UTSW 9 96,442,830 (GRCm39) missense probably benign 0.01
R4258:Rasa2 UTSW 9 96,439,433 (GRCm39) intron probably benign
R4432:Rasa2 UTSW 9 96,424,460 (GRCm39) unclassified probably benign
R4636:Rasa2 UTSW 9 96,426,390 (GRCm39) missense probably benign
R4773:Rasa2 UTSW 9 96,426,470 (GRCm39) missense probably benign
R4990:Rasa2 UTSW 9 96,474,042 (GRCm39) missense probably benign 0.24
R5177:Rasa2 UTSW 9 96,426,844 (GRCm39) nonsense probably null
R5462:Rasa2 UTSW 9 96,453,971 (GRCm39) missense probably damaging 1.00
R5737:Rasa2 UTSW 9 96,452,718 (GRCm39) critical splice donor site probably null
R5775:Rasa2 UTSW 9 96,459,521 (GRCm39) splice site probably null
R5866:Rasa2 UTSW 9 96,427,823 (GRCm39) missense probably benign 0.00
R5938:Rasa2 UTSW 9 96,493,442 (GRCm39) missense possibly damaging 0.50
R6076:Rasa2 UTSW 9 96,427,699 (GRCm39) missense probably benign
R6216:Rasa2 UTSW 9 96,426,357 (GRCm39) missense probably damaging 1.00
R6743:Rasa2 UTSW 9 96,493,493 (GRCm39) missense probably damaging 1.00
R6982:Rasa2 UTSW 9 96,442,803 (GRCm39) missense probably damaging 1.00
R7350:Rasa2 UTSW 9 96,426,408 (GRCm39) missense probably benign 0.16
R7405:Rasa2 UTSW 9 96,448,080 (GRCm39) missense probably benign 0.09
R7421:Rasa2 UTSW 9 96,493,500 (GRCm39) missense unknown
R7490:Rasa2 UTSW 9 96,448,175 (GRCm39) missense possibly damaging 0.48
R7515:Rasa2 UTSW 9 96,434,353 (GRCm39) splice site probably null
R7547:Rasa2 UTSW 9 96,493,474 (GRCm39) missense probably damaging 1.00
R7557:Rasa2 UTSW 9 96,439,478 (GRCm39) missense probably damaging 0.98
R7821:Rasa2 UTSW 9 96,462,537 (GRCm39) splice site probably null
R7894:Rasa2 UTSW 9 96,484,780 (GRCm39) missense probably benign 0.13
R8089:Rasa2 UTSW 9 96,435,177 (GRCm39) missense probably benign 0.00
R8193:Rasa2 UTSW 9 96,484,791 (GRCm39) missense probably damaging 0.97
R8827:Rasa2 UTSW 9 96,434,403 (GRCm39) missense probably damaging 1.00
R8847:Rasa2 UTSW 9 96,458,402 (GRCm39) missense possibly damaging 0.51
R9043:Rasa2 UTSW 9 96,484,770 (GRCm39) missense probably damaging 1.00
R9672:Rasa2 UTSW 9 96,427,781 (GRCm39) missense probably damaging 1.00
RF017:Rasa2 UTSW 9 96,513,521 (GRCm39) small insertion probably benign
RF029:Rasa2 UTSW 9 96,513,520 (GRCm39) small insertion probably benign
RF047:Rasa2 UTSW 9 96,513,520 (GRCm39) small insertion probably benign
Posted On 2012-12-06