Incidental Mutation 'IGL03397:Rapgef5'
ID 421292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef5
Ensembl Gene ENSMUSG00000041992
Gene Name Rap guanine nucleotide exchange factor (GEF) 5
Synonyms mr-gef, D030051B22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03397
Quality Score
Status
Chromosome 12
Chromosomal Location 117480146-117723472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117712176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 754 (F754L)
Ref Sequence ENSEMBL: ENSMUSP00000105313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]
AlphaFold Q8C0Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000109691
AA Change: F754L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: F754L

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 damaging
Transcript: ENSMUST00000222105
AA Change: F552L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000222185
AA Change: F520L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,743 (GRCm39) Y51F probably benign Het
Ankrd42 G A 7: 92,268,762 (GRCm39) L194F probably damaging Het
Ccdc81 G T 7: 89,546,036 (GRCm39) T56N probably damaging Het
Cdh10 T C 15: 18,964,114 (GRCm39) I92T probably damaging Het
Csta3 A T 16: 36,033,984 (GRCm39) I55F probably damaging Het
Eif2b4 A G 5: 31,344,997 (GRCm39) I550T probably damaging Het
Epb41l3 A G 17: 69,555,687 (GRCm39) Y304C probably damaging Het
Gm10244 A G 6: 39,397,740 (GRCm39) probably benign Het
H2bc14 T C 13: 21,906,551 (GRCm39) I95T possibly damaging Het
Lrrc74a T C 12: 86,805,312 (GRCm39) V378A probably benign Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mctp2 A G 7: 71,909,025 (GRCm39) L96P probably damaging Het
Nlrp5 G A 7: 23,112,759 (GRCm39) V139M probably damaging Het
Nrcam T G 12: 44,606,540 (GRCm39) S429A probably damaging Het
Or5an11 C A 19: 12,245,866 (GRCm39) Q91K probably benign Het
Pdgfrb A T 18: 61,212,753 (GRCm39) T886S probably benign Het
Sbf1 T C 15: 89,172,924 (GRCm39) K1863R probably damaging Het
Sis T C 3: 72,843,212 (GRCm39) T751A probably benign Het
Six3 G T 17: 85,929,074 (GRCm39) R136L probably damaging Het
Slc6a12 A G 6: 121,334,004 (GRCm39) D280G probably damaging Het
Sox2 A G 3: 34,704,686 (GRCm39) D41G probably damaging Het
Stxbp4 A T 11: 90,431,060 (GRCm39) L417M probably damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tex55 G A 16: 38,649,055 (GRCm39) P18L probably damaging Het
Tgm2 T C 2: 157,962,178 (GRCm39) Y547C probably damaging Het
Thsd7b A G 1: 129,523,901 (GRCm39) R312G probably benign Het
Tmem94 G T 11: 115,678,394 (GRCm39) probably benign Het
Usp39 A G 6: 72,313,296 (GRCm39) M298T possibly damaging Het
Vmn2r85 C T 10: 130,261,263 (GRCm39) C358Y probably damaging Het
Zscan18 A T 7: 12,507,488 (GRCm39) S497T probably damaging Het
Other mutations in Rapgef5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Rapgef5 APN 12 117,677,917 (GRCm39) missense probably damaging 0.99
IGL01405:Rapgef5 APN 12 117,685,115 (GRCm39) missense probably benign 0.16
IGL01611:Rapgef5 APN 12 117,717,154 (GRCm39) splice site probably benign
IGL01720:Rapgef5 APN 12 117,577,055 (GRCm39) splice site probably benign
IGL01958:Rapgef5 APN 12 117,694,386 (GRCm39) missense probably benign 0.24
IGL02093:Rapgef5 APN 12 117,682,867 (GRCm39) missense probably damaging 0.98
IGL03210:Rapgef5 APN 12 117,706,607 (GRCm39) missense probably damaging 1.00
IGL03370:Rapgef5 APN 12 117,694,294 (GRCm39) missense probably damaging 1.00
R0026:Rapgef5 UTSW 12 117,652,896 (GRCm39) missense probably benign 0.11
R0026:Rapgef5 UTSW 12 117,652,896 (GRCm39) missense probably benign 0.11
R0100:Rapgef5 UTSW 12 117,685,034 (GRCm39) missense probably benign 0.05
R0173:Rapgef5 UTSW 12 117,652,411 (GRCm39) missense probably benign 0.00
R0834:Rapgef5 UTSW 12 117,610,741 (GRCm39) splice site probably benign
R1331:Rapgef5 UTSW 12 117,685,084 (GRCm39) missense probably benign 0.04
R1505:Rapgef5 UTSW 12 117,652,354 (GRCm39) missense possibly damaging 0.92
R1546:Rapgef5 UTSW 12 117,610,721 (GRCm39) missense probably benign 0.00
R1577:Rapgef5 UTSW 12 117,558,911 (GRCm39) missense probably benign 0.28
R1597:Rapgef5 UTSW 12 117,621,940 (GRCm39) missense probably damaging 1.00
R1824:Rapgef5 UTSW 12 117,652,419 (GRCm39) critical splice donor site probably null
R2065:Rapgef5 UTSW 12 117,547,739 (GRCm39) nonsense probably null
R2117:Rapgef5 UTSW 12 117,677,799 (GRCm39) splice site probably null
R2169:Rapgef5 UTSW 12 117,679,130 (GRCm39) missense probably benign 0.25
R2903:Rapgef5 UTSW 12 117,677,854 (GRCm39) missense probably damaging 1.00
R3983:Rapgef5 UTSW 12 117,692,405 (GRCm39) missense possibly damaging 0.49
R4004:Rapgef5 UTSW 12 117,712,132 (GRCm39) missense probably damaging 0.99
R4652:Rapgef5 UTSW 12 117,677,863 (GRCm39) missense probably damaging 0.99
R4830:Rapgef5 UTSW 12 117,719,809 (GRCm39) missense probably damaging 1.00
R5282:Rapgef5 UTSW 12 117,703,379 (GRCm39) missense probably damaging 1.00
R5348:Rapgef5 UTSW 12 117,652,346 (GRCm39) missense probably benign 0.24
R5456:Rapgef5 UTSW 12 117,692,381 (GRCm39) splice site probably null
R5502:Rapgef5 UTSW 12 117,685,064 (GRCm39) missense probably damaging 1.00
R5741:Rapgef5 UTSW 12 117,719,764 (GRCm39) missense probably damaging 0.99
R5771:Rapgef5 UTSW 12 117,685,061 (GRCm39) missense probably benign 0.45
R5905:Rapgef5 UTSW 12 117,712,161 (GRCm39) missense probably damaging 1.00
R5941:Rapgef5 UTSW 12 117,692,473 (GRCm39) missense probably damaging 1.00
R6228:Rapgef5 UTSW 12 117,685,398 (GRCm39) splice site probably null
R6233:Rapgef5 UTSW 12 117,703,453 (GRCm39) critical splice donor site probably null
R6376:Rapgef5 UTSW 12 117,684,988 (GRCm39) missense probably damaging 1.00
R6475:Rapgef5 UTSW 12 117,681,942 (GRCm39) missense probably damaging 1.00
R7063:Rapgef5 UTSW 12 117,652,864 (GRCm39) missense possibly damaging 0.91
R7410:Rapgef5 UTSW 12 117,685,063 (GRCm39) missense probably damaging 1.00
R7445:Rapgef5 UTSW 12 117,719,704 (GRCm39) missense probably benign 0.00
R7690:Rapgef5 UTSW 12 117,685,105 (GRCm39) missense possibly damaging 0.72
R7707:Rapgef5 UTSW 12 117,679,079 (GRCm39) missense probably damaging 1.00
R7815:Rapgef5 UTSW 12 117,719,702 (GRCm39) missense probably benign 0.10
R8461:Rapgef5 UTSW 12 117,677,844 (GRCm39) missense probably benign 0.00
R8475:Rapgef5 UTSW 12 117,681,965 (GRCm39) missense probably damaging 0.99
R8675:Rapgef5 UTSW 12 117,547,782 (GRCm39) missense probably damaging 1.00
R8682:Rapgef5 UTSW 12 117,545,432 (GRCm39) missense probably benign 0.06
R9018:Rapgef5 UTSW 12 117,712,132 (GRCm39) missense probably damaging 0.99
R9617:Rapgef5 UTSW 12 117,621,930 (GRCm39) missense probably benign 0.00
X0018:Rapgef5 UTSW 12 117,681,950 (GRCm39) missense probably damaging 1.00
Z1176:Rapgef5 UTSW 12 117,558,908 (GRCm39) missense probably damaging 1.00
Z1177:Rapgef5 UTSW 12 117,652,732 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02