Incidental Mutation 'P0026:Rap1gap2'
ID8025
Institutional Source Beutler Lab
Gene Symbol Rap1gap2
Ensembl Gene ENSMUSG00000038807
Gene NameRAP1 GTPase activating protein 2
SynonymsGarnl4, LOC380710
MMRRC Submission 038279-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.415) question?
Stock #P0026 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location74383356-74610915 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 74567210 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521] [ENSMUST00000145524]
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 probably benign
Transcript: ENSMUST00000145524
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 78.9%
  • 10x: 59.5%
  • 20x: 38.1%
Validation Efficiency 97% (63/65)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,453,723 N182D probably benign Het
Acad10 T C 5: 121,637,352 Y429C probably damaging Het
Aifm3 A T 16: 17,507,117 probably benign Het
Bud13 A G 9: 46,288,358 H339R probably benign Het
Cpa1 T A 6: 30,640,906 M132K probably damaging Het
Dapk1 T A 13: 60,718,149 probably benign Het
Dchs1 A T 7: 105,758,405 N2073K probably damaging Het
Dnah2 A T 11: 69,464,947 N2227K probably damaging Het
Dnpep C T 1: 75,308,685 V468I probably benign Het
Elf3 A G 1: 135,255,973 probably null Het
Fam124a T G 14: 62,606,122 L360V probably damaging Het
Fam20a A T 11: 109,675,841 probably null Het
Fermt3 A G 19: 7,014,424 S140P probably damaging Het
Gm10440 T C 5: 54,356,169 noncoding transcript Het
Il12rb1 A G 8: 70,812,541 D167G probably damaging Het
Ints8 T A 4: 11,225,788 K590* probably null Het
Kcnu1 T C 8: 25,892,122 F500S probably damaging Het
Mrm3 T C 11: 76,247,500 V238A probably damaging Het
Rusc2 T A 4: 43,415,840 V382E possibly damaging Het
Slc9a5 A G 8: 105,355,291 N216S probably damaging Het
Snx7 A T 3: 117,840,023 F63I probably damaging Het
Syne2 A G 12: 75,880,220 probably benign Het
Tenm4 T C 7: 96,874,527 Y1751H probably damaging Het
Trappc9 G A 15: 72,953,082 P366S probably damaging Het
Trim17 A G 11: 58,971,258 D372G possibly damaging Het
Zfp354a G A 11: 51,061,498 G85R probably null 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
IGL02832:Rap1gap2 APN 11 74412455 splice site probably benign
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
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
Z1176:Rap1gap2 UTSW 11 74610877 frame shift probably null
Posted On2012-11-20