Incidental Mutation 'R6167:Rapgef3'
ID 490217
Institutional Source Beutler Lab
Gene Symbol Rapgef3
Ensembl Gene ENSMUSG00000022469
Gene Name Rap guanine nucleotide exchange factor (GEF) 3
Synonyms Epac1, 9330170P05Rik, 2310016P22Rik
MMRRC Submission 044313-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R6167 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 97642651-97665853 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 97665292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126854] [ENSMUST00000128775] [ENSMUST00000129223] [ENSMUST00000134885] [ENSMUST00000175894] [ENSMUST00000135080] [ENSMUST00000149419] [ENSMUST00000146620] [ENSMUST00000177352]
AlphaFold Q8VCC8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124374
Predicted Effect probably benign
Transcript: ENSMUST00000126854
SMART Domains Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
DEP 111 186 2.05e-25 SMART
low complexity region 197 208 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
cNMP 245 364 2.53e-12 SMART
RasGEFN 383 514 7.04e-10 SMART
Blast:RasGEF 547 644 6e-45 BLAST
RasGEF 661 926 7.98e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128775
SMART Domains Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
DEP 111 186 2.05e-25 SMART
low complexity region 197 208 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
cNMP 245 364 2.53e-12 SMART
RasGEFN 383 514 7.04e-10 SMART
Blast:RasGEF 547 644 7e-45 BLAST
RasGEF 661 909 5.53e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129223
SMART Domains Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
DEP 111 186 2.05e-25 SMART
low complexity region 197 208 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
cNMP 245 364 2.53e-12 SMART
RasGEFN 383 514 7.04e-10 SMART
Blast:RasGEF 547 644 6e-45 BLAST
RasGEF 661 918 2.11e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134885
SMART Domains Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
RasGEF 1 216 2.91e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175894
Predicted Effect probably benign
Transcript: ENSMUST00000135080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149373
Predicted Effect probably benign
Transcript: ENSMUST00000149419
Predicted Effect probably benign
Transcript: ENSMUST00000146620
SMART Domains Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
DEP 69 144 2.05e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177352
SMART Domains Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
DEP 69 144 2.05e-25 SMART
low complexity region 155 166 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
cNMP 203 322 2.53e-12 SMART
RasGEFN 341 472 7.04e-10 SMART
Blast:RasGEF 505 602 3e-45 BLAST
RasGEF 619 884 7.98e-95 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Dcaf7 A T 11: 105,928,077 (GRCm39) Y43F probably damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Grip1 T C 10: 119,733,702 (GRCm39) probably null Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Prss54 G A 8: 96,286,173 (GRCm39) P300L possibly damaging Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Sh3glb1 A T 3: 144,397,664 (GRCm39) D358E probably damaging Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc22a23 T A 13: 34,528,542 (GRCm39) Y80F probably damaging Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K probably damaging Het
Other mutations in Rapgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Rapgef3 APN 15 97,646,104 (GRCm39) missense probably damaging 1.00
IGL01339:Rapgef3 APN 15 97,655,940 (GRCm39) missense probably damaging 1.00
IGL01670:Rapgef3 APN 15 97,647,543 (GRCm39) missense probably benign 0.15
IGL01902:Rapgef3 APN 15 97,648,181 (GRCm39) missense probably benign 0.32
IGL02137:Rapgef3 APN 15 97,648,025 (GRCm39) missense probably benign 0.08
IGL02419:Rapgef3 APN 15 97,648,171 (GRCm39) missense probably benign 0.33
IGL02427:Rapgef3 APN 15 97,645,017 (GRCm39) splice site probably null
IGL02648:Rapgef3 APN 15 97,656,273 (GRCm39) missense probably damaging 1.00
IGL02834:Rapgef3 APN 15 97,646,146 (GRCm39) missense probably damaging 0.98
IGL03389:Rapgef3 APN 15 97,647,397 (GRCm39) missense probably damaging 1.00
IGL03055:Rapgef3 UTSW 15 97,647,370 (GRCm39) splice site probably benign
R0394:Rapgef3 UTSW 15 97,655,700 (GRCm39) intron probably benign
R0538:Rapgef3 UTSW 15 97,655,698 (GRCm39) intron probably benign
R0744:Rapgef3 UTSW 15 97,659,466 (GRCm39) splice site probably benign
R1288:Rapgef3 UTSW 15 97,657,223 (GRCm39) missense probably benign 0.31
R1512:Rapgef3 UTSW 15 97,655,382 (GRCm39) missense probably benign 0.24
R1676:Rapgef3 UTSW 15 97,659,063 (GRCm39) missense probably benign 0.35
R1745:Rapgef3 UTSW 15 97,648,059 (GRCm39) missense probably benign 0.22
R1928:Rapgef3 UTSW 15 97,647,914 (GRCm39) missense probably damaging 1.00
R2063:Rapgef3 UTSW 15 97,664,842 (GRCm39) missense probably damaging 1.00
R2067:Rapgef3 UTSW 15 97,664,842 (GRCm39) missense probably damaging 1.00
R2092:Rapgef3 UTSW 15 97,658,604 (GRCm39) missense probably damaging 1.00
R4358:Rapgef3 UTSW 15 97,646,529 (GRCm39) missense probably benign 0.05
R4624:Rapgef3 UTSW 15 97,656,810 (GRCm39) missense probably damaging 1.00
R4627:Rapgef3 UTSW 15 97,656,810 (GRCm39) missense probably damaging 1.00
R4727:Rapgef3 UTSW 15 97,658,481 (GRCm39) missense probably damaging 1.00
R4812:Rapgef3 UTSW 15 97,651,684 (GRCm39) missense probably benign 0.21
R4928:Rapgef3 UTSW 15 97,655,256 (GRCm39) missense probably damaging 1.00
R5161:Rapgef3 UTSW 15 97,655,606 (GRCm39) missense probably damaging 1.00
R5442:Rapgef3 UTSW 15 97,656,742 (GRCm39) missense probably damaging 0.99
R5652:Rapgef3 UTSW 15 97,656,318 (GRCm39) missense probably benign 0.00
R5837:Rapgef3 UTSW 15 97,655,223 (GRCm39) splice site probably benign
R6056:Rapgef3 UTSW 15 97,656,742 (GRCm39) missense probably damaging 0.99
R6694:Rapgef3 UTSW 15 97,657,865 (GRCm39) missense probably benign 0.03
R7039:Rapgef3 UTSW 15 97,659,449 (GRCm39) missense probably benign 0.01
R7154:Rapgef3 UTSW 15 97,651,758 (GRCm39) missense probably benign
R7380:Rapgef3 UTSW 15 97,664,672 (GRCm39) missense probably benign 0.00
R7655:Rapgef3 UTSW 15 97,659,090 (GRCm39) missense probably damaging 1.00
R7656:Rapgef3 UTSW 15 97,659,090 (GRCm39) missense probably damaging 1.00
R7754:Rapgef3 UTSW 15 97,655,627 (GRCm39) missense probably damaging 1.00
R7849:Rapgef3 UTSW 15 97,656,271 (GRCm39) critical splice donor site probably null
R8061:Rapgef3 UTSW 15 97,659,401 (GRCm39) missense probably benign
R8117:Rapgef3 UTSW 15 97,648,747 (GRCm39) missense probably benign 0.01
R8179:Rapgef3 UTSW 15 97,658,621 (GRCm39) missense probably benign 0.06
R8819:Rapgef3 UTSW 15 97,646,538 (GRCm39) missense probably benign 0.39
R8820:Rapgef3 UTSW 15 97,646,538 (GRCm39) missense probably benign 0.39
R8824:Rapgef3 UTSW 15 97,664,789 (GRCm39) missense probably benign 0.39
R9779:Rapgef3 UTSW 15 97,643,479 (GRCm39) missense probably damaging 0.99
R9781:Rapgef3 UTSW 15 97,643,479 (GRCm39) missense probably damaging 0.99
R9782:Rapgef3 UTSW 15 97,643,479 (GRCm39) missense probably damaging 0.99
RF024:Rapgef3 UTSW 15 97,658,621 (GRCm39) missense probably benign 0.06
X0011:Rapgef3 UTSW 15 97,659,354 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2017-10-10