Incidental Mutation 'R0026:Rapgef5'
ID 64503
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 038321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0026 (G1)
Quality Score 127
Status Validated
Chromosome 12
Chromosomal Location 117480146-117723472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117652896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 307 (S307P)
Ref Sequence ENSEMBL: ENSMUSP00000105313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]
AlphaFold Q8C0Q9
Predicted Effect probably benign
Transcript: ENSMUST00000109691
AA Change: S307P

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: S307P

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: S105P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000222185
AA Change: S73P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223040
Meta Mutation Damage Score 0.4386 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,566 (GRCm39) I585N possibly damaging Het
A830005F24Rik C T 13: 48,667,848 (GRCm39) probably benign Het
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Adam19 G T 11: 46,027,086 (GRCm39) C573F probably damaging Het
Aff3 A G 1: 38,242,974 (GRCm39) S948P probably benign Het
Anxa3 T A 5: 96,986,260 (GRCm39) Y300N probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Cdc16 T A 8: 13,809,130 (GRCm39) probably null Het
Cep135 C T 5: 76,754,581 (GRCm39) R353* probably null Het
Cma1 A T 14: 56,179,621 (GRCm39) C188S probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dbn1 T C 13: 55,625,597 (GRCm39) E275G probably damaging Het
Dlgap2 C T 8: 14,777,363 (GRCm39) Q203* probably null Het
Ephb3 A G 16: 21,033,667 (GRCm39) D251G probably damaging Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Gm10801 T C 2: 98,494,254 (GRCm39) probably benign Het
Got1l1 C T 8: 27,690,276 (GRCm39) V132I probably benign Het
H2-M9 T C 17: 36,952,419 (GRCm39) probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Kctd3 T C 1: 188,708,818 (GRCm39) T519A probably damaging Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Map1s G A 8: 71,367,282 (GRCm39) G729D probably damaging Het
Mlycd A G 8: 120,137,174 (GRCm39) I465V probably benign Het
Mrgprb1 T C 7: 48,096,952 (GRCm39) R108G possibly damaging Het
Mrgprx2 T A 7: 48,131,771 (GRCm39) H106L possibly damaging Het
Ncor1 T C 11: 62,329,255 (GRCm39) Y6C probably damaging Het
Nfkb1 T C 3: 135,297,334 (GRCm39) D773G probably damaging Het
Nxnl1 A G 8: 72,019,217 (GRCm39) S3P probably damaging Het
Or12d17 T A 17: 37,777,694 (GRCm39) V199D probably damaging Het
Or8b54 G A 9: 38,686,892 (GRCm39) V114I probably benign Het
Otud7a T C 7: 63,385,549 (GRCm39) F338L probably benign Het
Pdcl3 T A 1: 39,030,361 (GRCm39) L14Q probably damaging Het
Pla2g7 T A 17: 43,905,821 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Relt C A 7: 100,499,428 (GRCm39) E164* probably null Het
Rnf185 T C 11: 3,376,617 (GRCm39) D86G probably damaging Het
Rrm2b T C 15: 37,953,985 (GRCm39) E21G probably benign Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Skint5 A T 4: 113,403,665 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc5a2 T A 7: 127,869,225 (GRCm39) I335N probably damaging Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Sstr1 T A 12: 58,259,644 (GRCm39) M89K probably damaging Het
Szt2 A T 4: 118,241,969 (GRCm39) S1612R possibly damaging Het
Taf1c T C 8: 120,330,975 (GRCm39) probably null Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Tmem125 A G 4: 118,399,270 (GRCm39) S54P possibly damaging Het
Ttf1 T A 2: 28,961,361 (GRCm39) I583N possibly damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Unc5b A T 10: 60,610,371 (GRCm39) I482N possibly damaging Het
Unc80 C A 1: 66,560,743 (GRCm39) Q824K probably benign Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vmn2r61 T G 7: 41,924,898 (GRCm39) I484R possibly damaging Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CTCAGTTCCCAGTGAAAGGACAAGG -3'
(R):5'- TTCCTACAGACCAGGTGAAAGCCC -3'

Sequencing Primer
(F):5'- TAGGCACTGTTCACAATGGG -3'
(R):5'- AGCTGCTTTTCATAGCACAGG -3'
Posted On 2013-08-06