Incidental Mutation 'IGL02093:Rapgef5'
ID 279494
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 # IGL02093
Quality Score
Status
Chromosome 12
Chromosomal Location 117480146-117723472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117682867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 220 (F220S)
Ref Sequence ENSEMBL: ENSMUSP00000152339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]
AlphaFold Q8C0Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000109691
AA Change: F454S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: F454S

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: F252S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000222185
AA Change: F220S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223173
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,160,396 (GRCm39) Y41F probably benign Het
Amigo1 T C 3: 108,095,214 (GRCm39) Y238H probably benign Het
Ankrd17 A G 5: 90,390,822 (GRCm39) S2283P possibly damaging Het
Apobec4 A G 1: 152,632,119 (GRCm39) H49R possibly damaging Het
Arhgap44 T C 11: 64,965,360 (GRCm39) K34R probably damaging Het
Arsg A G 11: 109,416,272 (GRCm39) Y173C possibly damaging Het
Arv1 C A 8: 125,457,617 (GRCm39) L56M probably damaging Het
B3glct A T 5: 149,656,150 (GRCm39) R194S probably benign Het
Ccdc39 T A 3: 33,886,717 (GRCm39) Y297F probably benign Het
Dnah8 A G 17: 30,936,854 (GRCm39) E1552G probably damaging Het
Dnajb9 T C 12: 44,253,987 (GRCm39) H140R probably damaging Het
Dock5 T G 14: 68,076,992 (GRCm39) probably benign Het
Egr2 G A 10: 67,375,854 (GRCm39) G92D probably damaging Het
Evi2a G A 11: 79,418,490 (GRCm39) S40L probably benign Het
Fshr A G 17: 89,309,317 (GRCm39) probably null Het
Glce G A 9: 61,977,821 (GRCm39) T21I probably damaging Het
Gucy2d C A 7: 98,092,755 (GRCm39) S44* probably null Het
Heatr5a T C 12: 51,962,858 (GRCm39) E1014G possibly damaging Het
Hnrnpll A T 17: 80,351,933 (GRCm39) H337Q probably benign Het
Jhy G T 9: 40,856,163 (GRCm39) probably null Het
Kat5 A T 19: 5,653,903 (GRCm39) M427K probably benign Het
Lama5 G A 2: 179,830,380 (GRCm39) P1876S probably damaging Het
Lamc3 C A 2: 31,777,667 (GRCm39) H104Q probably damaging Het
Lcn5 T C 2: 25,548,462 (GRCm39) Y84H probably damaging Het
Mageb18 T A X: 91,163,872 (GRCm39) K123N probably damaging Het
Mfhas1 T A 8: 36,056,498 (GRCm39) N324K probably damaging Het
Nagk T C 6: 83,776,352 (GRCm39) F189S probably damaging Het
Nbas T A 12: 13,610,963 (GRCm39) M2218K probably benign Het
Nuak2 C A 1: 132,259,850 (GRCm39) P543T probably benign Het
Or2ag17 C T 7: 106,390,030 (GRCm39) M59I probably benign Het
Or5bh3 C T X: 49,098,705 (GRCm39) M136I possibly damaging Het
Prl8a9 T C 13: 27,743,436 (GRCm39) Y123C probably damaging Het
Rexo4 T C 2: 26,852,530 (GRCm39) D135G probably benign Het
Slc39a10 C T 1: 46,874,369 (GRCm39) R311Q probably damaging Het
Slfn10-ps A T 11: 82,923,016 (GRCm39) noncoding transcript Het
Tfrc A G 16: 32,449,012 (GRCm39) E717G probably benign Het
Tg T A 15: 66,564,223 (GRCm39) N1141K possibly damaging Het
Topors T C 4: 40,261,467 (GRCm39) S606G probably damaging Het
Usp11 A G X: 20,585,591 (GRCm39) D827G probably benign Het
Vmn2r1 A T 3: 64,012,130 (GRCm39) M664L probably benign Het
Vmn2r14 A T 5: 109,368,275 (GRCm39) M239K possibly damaging Het
Xiap T C X: 41,188,704 (GRCm39) probably benign Het
Zfp2 G A 11: 50,791,831 (GRCm39) P71S probably benign Het
Zhx1 T A 15: 57,916,264 (GRCm39) T661S probably benign 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
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
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 2015-04-16