Incidental Mutation 'IGL02832:Rap1gap2'
ID361509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1gap2
Ensembl Gene ENSMUSG00000038807
Gene NameRAP1 GTPase activating protein 2
SynonymsGarnl4, LOC380710
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.549) question?
Stock #IGL02832
Quality Score
Status
Chromosome11
Chromosomal Location74383356-74610915 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 74412455 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521]
Predicted Effect probably benign
Transcript: ENSMUST00000047488
SMART Domains Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807

DomainStartEndE-ValueType
Pfam:Rap_GAP 258 445 1.2e-64 PFAM
low complexity region 617 629 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102521
SMART Domains Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807

DomainStartEndE-ValueType
Pfam:Rap_GAP 258 439 4.9e-67 PFAM
low complexity region 617 629 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123440
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,807,175 T985M probably damaging Het
Alpk1 A G 3: 127,679,943 S804P possibly damaging Het
Ap3b1 A G 13: 94,528,327 I925V unknown Het
Cep135 T A 5: 76,640,949 S1130T probably damaging Het
Cers3 A T 7: 66,781,825 M183L probably benign Het
Col5a1 A G 2: 27,952,340 E409G unknown Het
Cyp4a32 G T 4: 115,614,621 V410F probably damaging Het
Ddx1 G A 12: 13,227,317 Q528* probably null Het
Dio2 G A 12: 90,729,404 probably benign Het
Dnah9 G T 11: 66,040,346 A2008E probably damaging Het
Dnajc2 A G 5: 21,760,410 V457A probably benign Het
Dytn T C 1: 63,643,373 T372A probably benign Het
Fam135a T C 1: 24,028,633 I152V probably benign Het
Fmnl2 C T 2: 52,858,249 A36V possibly damaging Het
Galnt7 G A 8: 57,552,497 T234I probably damaging Het
Gba A C 3: 89,203,502 I6L probably benign Het
Gja10 A G 4: 32,602,147 V79A probably damaging Het
Gpd2 T A 2: 57,338,979 V265E probably damaging Het
Gpld1 T C 13: 24,952,878 Y60H probably damaging Het
Heatr9 A G 11: 83,518,846 probably benign Het
Hist3h2ba A G 11: 58,949,043 K35R probably benign Het
Krt75 T A 15: 101,568,073 D419V probably benign Het
Lrig3 A T 10: 126,007,002 I599F probably benign Het
Lrp4 A G 2: 91,511,580 D1846G probably damaging Het
Mamdc2 C T 19: 23,303,851 A653T probably damaging Het
Myo7a A T 7: 98,091,020 probably null Het
Notch2 A G 3: 98,137,373 D1537G probably benign Het
Olfr370 G A 8: 83,541,471 C109Y probably damaging Het
Olfr559 G T 7: 102,723,651 H280N probably benign Het
Olfr608 A T 7: 103,470,698 I220L probably benign Het
Papss1 A C 3: 131,582,519 D84A probably damaging Het
Pcdhb16 T A 18: 37,478,474 D162E probably damaging Het
Rab11fip1 C T 8: 27,152,812 R653Q possibly damaging Het
Rasal2 T C 1: 157,157,207 D990G probably damaging Het
Rnf32 T C 5: 29,205,703 probably null Het
Rp1 T C 1: 4,349,713 D392G probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Selenon A T 4: 134,540,908 V438D probably damaging Het
Slc47a1 G A 11: 61,363,413 H158Y probably benign Het
Slc5a12 A T 2: 110,640,815 E463D probably benign Het
Taf2 C T 15: 55,016,563 V1126M probably benign Het
Tas2r143 G T 6: 42,400,325 V30L possibly damaging Het
Tcea3 G A 4: 136,268,113 V256M probably damaging Het
Thy1 A G 9: 44,046,814 T80A probably benign Het
Tmem9 A G 1: 136,019,731 N47S probably damaging Het
Tmprss11g T C 5: 86,497,269 Q101R probably benign Het
Trim66 C T 7: 109,460,497 C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 M226K probably damaging Het
Utrn G T 10: 12,738,193 T378K possibly damaging Het
Vmn2r23 A G 6: 123,704,396 I88V probably benign Het
Other mutations in Rap1gap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Rap1gap2 APN 11 74416259 missense probably benign 0.25
IGL00839:Rap1gap2 APN 11 74437448 missense probably damaging 1.00
IGL02301:Rap1gap2 APN 11 74407369 missense probably damaging 1.00
IGL02367:Rap1gap2 APN 11 74397355 critical splice donor site probably null
IGL03067:Rap1gap2 APN 11 74393412 missense possibly damaging 0.63
IGL03341:Rap1gap2 APN 11 74435714 missense probably damaging 1.00
IGL03355:Rap1gap2 APN 11 74412344 missense probably damaging 1.00
P0026:Rap1gap2 UTSW 11 74567210 splice site probably benign
R0106:Rap1gap2 UTSW 11 74435744 missense probably benign 0.10
R0106:Rap1gap2 UTSW 11 74435744 missense probably benign 0.10
R0514:Rap1gap2 UTSW 11 74388854 missense possibly damaging 0.74
R0518:Rap1gap2 UTSW 11 74441766 missense probably damaging 1.00
R0521:Rap1gap2 UTSW 11 74441766 missense probably damaging 1.00
R1070:Rap1gap2 UTSW 11 74437027 missense possibly damaging 0.71
R1467:Rap1gap2 UTSW 11 74437027 missense possibly damaging 0.71
R1467:Rap1gap2 UTSW 11 74437027 missense possibly damaging 0.71
R1998:Rap1gap2 UTSW 11 74395833 missense probably benign 0.04
R2144:Rap1gap2 UTSW 11 74425976 missense probably damaging 1.00
R2145:Rap1gap2 UTSW 11 74425976 missense probably damaging 1.00
R2180:Rap1gap2 UTSW 11 74393146 missense probably benign 0.24
R2938:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R2991:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R2992:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R2993:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R3033:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R3035:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R3686:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R4426:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R4427:Rap1gap2 UTSW 11 74407322 missense possibly damaging 0.71
R4621:Rap1gap2 UTSW 11 74435699 critical splice donor site probably null
R4705:Rap1gap2 UTSW 11 74437439 missense probably damaging 1.00
R4809:Rap1gap2 UTSW 11 74407974 splice site probably benign
R5092:Rap1gap2 UTSW 11 74438295 missense probably damaging 1.00
R5283:Rap1gap2 UTSW 11 74395825 missense probably damaging 1.00
R5343:Rap1gap2 UTSW 11 74441785 missense probably damaging 0.99
R5941:Rap1gap2 UTSW 11 74392237 missense probably damaging 1.00
R6414:Rap1gap2 UTSW 11 74405790 missense probably damaging 1.00
R6647:Rap1gap2 UTSW 11 74407928 missense probably benign 0.04
R6951:Rap1gap2 UTSW 11 74484948 missense possibly damaging 0.81
R7096:Rap1gap2 UTSW 11 74392231 missense probably damaging 0.99
R7107:Rap1gap2 UTSW 11 74393119 missense probably damaging 1.00
R7397:Rap1gap2 UTSW 11 74414411 missense probably benign 0.28
R7553:Rap1gap2 UTSW 11 74435722 missense probably damaging 0.97
R8038:Rap1gap2 UTSW 11 74392283 missense probably benign 0.00
R8051:Rap1gap2 UTSW 11 74395825 missense probably damaging 0.97
R8466:Rap1gap2 UTSW 11 74425231 missense probably benign 0.33
R8772:Rap1gap2 UTSW 11 74405725 missense probably damaging 1.00
Z1176:Rap1gap2 UTSW 11 74610877 frame shift probably null
Z1186:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1187:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1188:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1189:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1190:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1191:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Z1192:Rap1gap2 UTSW 11 74596895 missense probably benign 0.41
Posted On2015-12-18