Incidental Mutation 'IGL02963:Rasa2'
ID 365450
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 # IGL02963
Quality Score
Status
Chromosome 9
Chromosomal Location 96421353-96513665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96452838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 349 (L349F)
Ref Sequence ENSEMBL: ENSMUSP00000034984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
AlphaFold P58069
Predicted Effect probably damaging
Transcript: ENSMUST00000034984
AA Change: L349F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: L349F

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: ENSMUST00000144376
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Eif3c T C 7: 126,155,992 (GRCm39) T493A probably benign Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown Het
Other mutations in Rasa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Rasa2 APN 9 96,426,913 (GRCm39) missense probably damaging 1.00
IGL00661:Rasa2 APN 9 96,459,606 (GRCm39) splice site probably benign
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
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 2015-12-18