Incidental Mutation 'IGL01645:Rasa2'
ID102615
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: 0.121) question?
Stock #IGL01645
Quality Score
Status
Chromosome9
Chromosomal Location96539300-96631617 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 96582781 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 190 (C190*)
Ref Sequence ENSEMBL: ENSMUSP00000034984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
Predicted Effect probably null
Transcript: ENSMUST00000034984
AA Change: C190*
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: C190*

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: ENSMUST00000190191
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
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign 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
IGL02260:Rasa2 APN 9 96544319 missense probably benign 0.08
IGL02568:Rasa2 APN 9 96580510 missense probably damaging 1.00
IGL02963:Rasa2 APN 9 96570785 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
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
Posted On2014-01-21