Incidental Mutation 'IGL01958:Rapgef5'
ID181477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef5
Ensembl Gene ENSMUSG00000041992
Gene NameRap guanine nucleotide exchange factor (GEF) 5
SynonymsD030051B22Rik, mr-gef
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01958
Quality Score
Status
Chromosome12
Chromosomal Location117516479-117759737 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117730651 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 637 (I637V)
Ref Sequence ENSEMBL: ENSMUSP00000105313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]
Predicted Effect probably benign
Transcript: ENSMUST00000109691
AA Change: I637V

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: I637V

DomainStartEndE-ValueType
DEP 44 118 2.07e-12 SMART
RasGEFN 300 434 3.12e-34 SMART
Blast:RasGEF 441 502 7e-31 BLAST
RasGEF 574 814 1.52e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222105
AA Change: I435V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222185
AA Change: I403V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Rapgef5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Rapgef5 APN 12 117714182 missense probably damaging 0.99
IGL01405:Rapgef5 APN 12 117721380 missense probably benign 0.16
IGL01611:Rapgef5 APN 12 117753419 splice site probably benign
IGL01720:Rapgef5 APN 12 117613435 splice site probably benign
IGL02093:Rapgef5 APN 12 117719132 missense probably damaging 0.98
IGL03210:Rapgef5 APN 12 117742872 missense probably damaging 1.00
IGL03370:Rapgef5 APN 12 117730559 missense probably damaging 1.00
IGL03397:Rapgef5 APN 12 117748441 missense probably damaging 1.00
R0026:Rapgef5 UTSW 12 117689161 missense probably benign 0.11
R0026:Rapgef5 UTSW 12 117689161 missense probably benign 0.11
R0100:Rapgef5 UTSW 12 117721299 missense probably benign 0.05
R0173:Rapgef5 UTSW 12 117688676 missense probably benign 0.00
R0834:Rapgef5 UTSW 12 117647121 splice site probably benign
R1331:Rapgef5 UTSW 12 117721349 missense probably benign 0.04
R1505:Rapgef5 UTSW 12 117688619 missense possibly damaging 0.92
R1546:Rapgef5 UTSW 12 117647101 missense probably benign 0.00
R1577:Rapgef5 UTSW 12 117595291 missense probably benign 0.28
R1597:Rapgef5 UTSW 12 117658320 missense probably damaging 1.00
R1824:Rapgef5 UTSW 12 117688684 critical splice donor site probably null
R2065:Rapgef5 UTSW 12 117584119 nonsense probably null
R2117:Rapgef5 UTSW 12 117714064 intron probably null
R2169:Rapgef5 UTSW 12 117715395 missense probably benign 0.25
R2903:Rapgef5 UTSW 12 117714119 missense probably damaging 1.00
R3983:Rapgef5 UTSW 12 117728670 missense possibly damaging 0.49
R4004:Rapgef5 UTSW 12 117748397 missense probably damaging 0.99
R4652:Rapgef5 UTSW 12 117714128 missense probably damaging 0.99
R4830:Rapgef5 UTSW 12 117756074 missense probably damaging 1.00
R5282:Rapgef5 UTSW 12 117739644 missense probably damaging 1.00
R5348:Rapgef5 UTSW 12 117688611 missense probably benign 0.24
R5456:Rapgef5 UTSW 12 117728646 splice site probably null
R5502:Rapgef5 UTSW 12 117721329 missense probably damaging 1.00
R5741:Rapgef5 UTSW 12 117756029 missense probably damaging 0.99
R5771:Rapgef5 UTSW 12 117721326 missense probably benign 0.45
R5905:Rapgef5 UTSW 12 117748426 missense probably damaging 1.00
R5941:Rapgef5 UTSW 12 117728738 missense probably damaging 1.00
R6228:Rapgef5 UTSW 12 117721663 intron probably null
R6233:Rapgef5 UTSW 12 117739718 critical splice donor site probably null
R6376:Rapgef5 UTSW 12 117721253 missense probably damaging 1.00
R6475:Rapgef5 UTSW 12 117718207 missense probably damaging 1.00
R7063:Rapgef5 UTSW 12 117689129 missense possibly damaging 0.91
R7410:Rapgef5 UTSW 12 117721328 missense probably damaging 1.00
R7445:Rapgef5 UTSW 12 117755969 missense probably benign 0.00
R7690:Rapgef5 UTSW 12 117721370 missense possibly damaging 0.72
R7707:Rapgef5 UTSW 12 117715344 missense probably damaging 1.00
R7815:Rapgef5 UTSW 12 117755967 missense probably benign 0.10
X0018:Rapgef5 UTSW 12 117718215 missense probably damaging 1.00
Z1176:Rapgef5 UTSW 12 117595288 missense probably damaging 1.00
Z1177:Rapgef5 UTSW 12 117688997 missense probably damaging 0.97
Posted On2014-05-07