Incidental Mutation 'IGL02963:Rasa2'
ID365450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene NameRAS p21 protein activator 2
SynonymsGAP1m, 5430433H21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL02963
Quality Score
Status
Chromosome9
Chromosomal Location96539300-96631617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 96570785 bp
ZygosityHeterozygous
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]
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: 24,384,529 L565Q probably damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Arhgap44 A T 11: 65,031,663 I348N probably damaging Het
Bahcc1 T C 11: 120,274,932 S1005P possibly damaging Het
Cdh20 T A 1: 104,934,098 M1K probably null Het
Cpsf3 T C 12: 21,302,422 S387P probably damaging Het
Cyp2j6 T C 4: 96,518,184 E450G probably damaging Het
Cyr61 A G 3: 145,647,875 Y311H probably damaging Het
Dusp13 T C 14: 21,733,807 T147A possibly damaging Het
Eif3c T C 7: 126,556,820 T493A probably benign Het
Ell2 T C 13: 75,769,643 V564A possibly damaging Het
Gm4788 G A 1: 139,731,596 Q732* probably null Het
Gtf2ird1 T G 5: 134,389,687 E478D probably benign Het
Gys2 A T 6: 142,449,428 probably null Het
H2-T3 T C 17: 36,189,634 T104A probably damaging Het
Herc1 T C 9: 66,388,823 S567P probably damaging Het
Kcnq3 A T 15: 66,285,826 probably benign Het
Kdm7a T C 6: 39,143,230 H935R probably damaging Het
Lcat A T 8: 105,939,956 F311L probably damaging Het
Manf A G 9: 106,891,139 S49P possibly damaging Het
Med25 T C 7: 44,892,256 K37E probably damaging Het
Ms4a4b T A 19: 11,454,698 I61K probably damaging Het
Muc5b T C 7: 141,864,264 I3649T probably damaging Het
Myo18a T G 11: 77,842,018 probably benign Het
Ncoa4 T C 14: 32,176,509 C429R probably damaging Het
Olfr113 A G 17: 37,574,854 S190P probably benign Het
Pigk G T 3: 152,766,461 E337* probably null Het
Pigz A T 16: 31,944,535 Y137F probably damaging Het
Ppp1r12b A G 1: 134,886,548 L339P probably damaging Het
Reep4 A G 14: 70,547,970 S186G possibly damaging Het
Rfx7 A G 9: 72,617,616 K696R probably benign Het
Rnf220 A G 4: 117,490,192 F8L probably damaging Het
Rprm T C 2: 54,085,214 T31A probably benign Het
Sez6 T A 11: 77,962,949 L148Q possibly damaging Het
Sh2d6 C T 6: 72,517,601 V96I probably benign Het
Slc16a9 G T 10: 70,267,136 V81F probably damaging Het
Slc9a9 T A 9: 95,020,714 probably null Het
Sppl3 T A 5: 115,061,603 L22Q probably damaging Het
Ssc5d T C 7: 4,944,327 S1227P probably benign Het
Tbc1d1 T A 5: 64,264,366 V238E probably damaging Het
Tmco6 G A 18: 36,738,745 probably null Het
Tyr A G 7: 87,483,997 V287A probably benign Het
Uvrag A T 7: 98,906,490 probably null Het
Vmn1r167 A G 7: 23,505,550 S14P possibly damaging Het
Vmn1r171 A G 7: 23,632,688 T113A possibly damaging Het
Wnk4 A G 11: 101,276,213 probably benign Het
Zan T C 5: 137,456,250 T1431A unknown Het
Other mutations in Rasa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Rasa2 APN 9 96544860 missense probably damaging 1.00
IGL00661:Rasa2 APN 9 96577553 splice site probably benign
IGL00825:Rasa2 APN 9 96570719 missense probably benign 0.37
IGL01645:Rasa2 APN 9 96582781 nonsense probably null
IGL02260:Rasa2 APN 9 96544319 missense probably benign 0.08
IGL02568:Rasa2 APN 9 96580510 missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96571963 missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96571963 missense probably damaging 1.00
R0144:Rasa2 UTSW 9 96592019 missense probably damaging 0.99
R0238:Rasa2 UTSW 9 96568407 missense probably damaging 1.00
R0238:Rasa2 UTSW 9 96568407 missense probably damaging 1.00
R0295:Rasa2 UTSW 9 96545810 splice site probably null
R0332:Rasa2 UTSW 9 96606176 missense probably damaging 1.00
R0348:Rasa2 UTSW 9 96571959 missense probably damaging 1.00
R0931:Rasa2 UTSW 9 96552404 missense possibly damaging 0.88
R1067:Rasa2 UTSW 9 96552323 missense probably damaging 1.00
R1485:Rasa2 UTSW 9 96544348 missense probably benign 0.00
R1562:Rasa2 UTSW 9 96545750 missense possibly damaging 0.89
R1698:Rasa2 UTSW 9 96568375 missense possibly damaging 0.56
R1980:Rasa2 UTSW 9 96570768 missense probably damaging 0.99
R3055:Rasa2 UTSW 9 96611473 missense possibly damaging 0.77
R4175:Rasa2 UTSW 9 96560777 missense probably benign 0.01
R4258:Rasa2 UTSW 9 96557380 intron probably benign
R4432:Rasa2 UTSW 9 96542407 unclassified probably benign
R4636:Rasa2 UTSW 9 96544337 missense probably benign
R4773:Rasa2 UTSW 9 96544417 missense probably benign
R4990:Rasa2 UTSW 9 96591989 missense probably benign 0.24
R5177:Rasa2 UTSW 9 96544791 nonsense probably null
R5462:Rasa2 UTSW 9 96571918 missense probably damaging 1.00
R5737:Rasa2 UTSW 9 96570665 critical splice donor site probably null
R5775:Rasa2 UTSW 9 96577468 splice site probably null
R5866:Rasa2 UTSW 9 96545770 missense probably benign 0.00
R5938:Rasa2 UTSW 9 96611389 missense possibly damaging 0.50
R6076:Rasa2 UTSW 9 96545646 missense probably benign
R6216:Rasa2 UTSW 9 96544304 missense probably damaging 1.00
R6743:Rasa2 UTSW 9 96611440 missense probably damaging 1.00
R6982:Rasa2 UTSW 9 96560750 missense probably damaging 1.00
R7350:Rasa2 UTSW 9 96544355 missense probably benign 0.16
R7405:Rasa2 UTSW 9 96566027 missense probably benign 0.09
R7421:Rasa2 UTSW 9 96611447 missense unknown
R7490:Rasa2 UTSW 9 96566122 missense possibly damaging 0.48
R7515:Rasa2 UTSW 9 96552300 splice site probably null
R7547:Rasa2 UTSW 9 96611421 missense probably damaging 1.00
R7557:Rasa2 UTSW 9 96557425 missense probably damaging 0.98
R7894:Rasa2 UTSW 9 96602727 missense probably benign 0.13
R7977:Rasa2 UTSW 9 96602727 missense probably benign 0.13
RF017:Rasa2 UTSW 9 96631468 small insertion probably benign
RF029:Rasa2 UTSW 9 96631467 small insertion probably benign
RF047:Rasa2 UTSW 9 96631467 small insertion probably benign
Posted On2015-12-18