Incidental Mutation 'R0100:Rapgef5'
ID 16441
Institutional Source Beutler Lab
Gene Symbol Rapgef5
Ensembl Gene ENSMUSG00000041992
Gene Name Rap guanine nucleotide exchange factor (GEF) 5
Synonyms mr-gef, D030051B22Rik
MMRRC Submission 038386-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0100 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 117480146-117723472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117685034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 261 (S261L)
Ref Sequence ENSEMBL: ENSMUSP00000152339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]
AlphaFold Q8C0Q9
Predicted Effect probably benign
Transcript: ENSMUST00000109691
AA Change: S495L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: S495L

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: S293L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000222185
AA Change: S261L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223173
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,259,415 (GRCm39) C814R probably damaging Het
Aoc1 T C 6: 48,885,538 (GRCm39) I681T possibly damaging Het
Atp13a4 T C 16: 29,240,542 (GRCm39) H793R probably damaging Het
Atp6v0a4 T C 6: 38,053,750 (GRCm39) I351V probably benign Het
Bbof1 T A 12: 84,457,829 (GRCm39) D31E probably benign Het
Cpxm2 T A 7: 131,656,600 (GRCm39) H554L possibly damaging Het
Ddx55 C T 5: 124,694,845 (GRCm39) T91I probably damaging Het
Dhx57 T C 17: 80,582,585 (GRCm39) D340G possibly damaging Het
Dnah1 C T 14: 30,984,109 (GRCm39) probably null Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Etl4 T C 2: 20,344,716 (GRCm39) S4P probably benign Het
Fat4 A C 3: 39,034,397 (GRCm39) N2683T probably damaging Het
Gabrb2 A G 11: 42,378,141 (GRCm39) D119G probably damaging Het
Garre1 A G 7: 33,953,436 (GRCm39) I442T possibly damaging Het
Greb1 T A 12: 16,730,225 (GRCm39) Q1734L probably benign Het
Gtf2ird2 T C 5: 134,245,857 (GRCm39) L705P probably damaging Het
H13 T A 2: 152,531,783 (GRCm39) probably null Het
Hgs T G 11: 120,373,678 (GRCm39) Y708D possibly damaging Het
Hip1 T C 5: 135,465,307 (GRCm39) D367G probably benign Het
Ift140 C T 17: 25,309,928 (GRCm39) Q1112* probably null Het
Il17b A G 18: 61,823,342 (GRCm39) M59V probably benign Het
Lpin3 T C 2: 160,747,260 (GRCm39) Y829H probably damaging Het
Lrrk2 A T 15: 91,629,999 (GRCm39) N1230I probably damaging Het
Mindy2 C A 9: 70,514,731 (GRCm39) probably benign Het
Nup210 T G 6: 91,046,175 (GRCm39) E586A probably benign Het
Or1j17 A T 2: 36,578,923 (GRCm39) N303I probably benign Het
Or2bd2 C T 7: 6,443,399 (GRCm39) R167C probably damaging Het
Or5be3 T C 2: 86,863,939 (GRCm39) T209A probably benign Het
Osgepl1 A G 1: 53,362,372 (GRCm39) I405V probably damaging Het
Pdcd11 T C 19: 47,091,105 (GRCm39) S360P probably benign Het
Plekha6 T C 1: 133,197,915 (GRCm39) S271P probably damaging Het
Plekhs1 A G 19: 56,466,934 (GRCm39) E255G probably damaging Het
Pram1 T A 17: 33,860,373 (GRCm39) N313K possibly damaging Het
Spint5 T A 2: 164,558,920 (GRCm39) C49S probably damaging Het
Tex22 T A 12: 113,052,392 (GRCm39) I150N probably benign Het
Thoc6 A T 17: 23,888,824 (GRCm39) W195R probably damaging Het
Tmem106a T C 11: 101,477,084 (GRCm39) S98P probably benign Het
Tnfrsf18 A G 4: 156,112,823 (GRCm39) T170A probably benign Het
Tor1aip1 A T 1: 155,882,821 (GRCm39) D342E probably damaging Het
Trav7-6 T C 14: 53,954,529 (GRCm39) S20P probably damaging Het
Trpc6 C T 9: 8,653,035 (GRCm39) P614S probably damaging Het
Washc5 A G 15: 59,215,947 (GRCm39) F811L possibly 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
IGL03397:Rapgef5 APN 12 117,712,176 (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
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 2013-01-20