Incidental Mutation 'R1676:Rapgef3'
ID 188124
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 039712-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R1676 (G1)
Quality Score 110
Status Not validated
Chromosome 15
Chromosomal Location 97642651-97665853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97659063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 101 (G101E)
Ref Sequence ENSEMBL: ENSMUSP00000116673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126854] [ENSMUST00000128775] [ENSMUST00000129223] [ENSMUST00000134371] [ENSMUST00000134885] [ENSMUST00000146620] [ENSMUST00000177352] [ENSMUST00000175894] [ENSMUST00000149419]
AlphaFold Q8VCC8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123397
Predicted Effect probably benign
Transcript: ENSMUST00000126854
AA Change: G143E

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: G143E

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
AA Change: G143E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: G143E

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
AA Change: G143E

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: G143E

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: ENSMUST00000134371
SMART Domains Protein: ENSMUSP00000122746
Gene: ENSMUSG00000022469

DomainStartEndE-ValueType
Blast:cNMP 1 24 9e-8 BLAST
PDB:3CF6|E 1 67 5e-12 PDB
Blast:RasGEFN 36 67 2e-15 BLAST
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: ENSMUST00000146620
AA Change: G101E

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
AA Change: G101E

DomainStartEndE-ValueType
DEP 69 144 2.05e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177352
AA Change: G101E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: G101E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153241
Predicted Effect probably benign
Transcript: ENSMUST00000175894
Predicted Effect probably benign
Transcript: ENSMUST00000149419
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cemip T A 7: 83,613,246 (GRCm39) I651F possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Emilin2 T C 17: 71,581,085 (GRCm39) D547G probably benign Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Jmjd1c T A 10: 67,060,588 (GRCm39) D693E probably benign Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S possibly 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
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
R6167:Rapgef3 UTSW 15 97,665,292 (GRCm39) unclassified probably benign
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 PCR Primer
(F):5'- CAGTCATGTTTTACTGGGGAGCCAAG -3'
(R):5'- ACCATCTGCGACTATATCGGTGAGTG -3'

Sequencing Primer
(F):5'- ggggtcaccacaacacaag -3'
(R):5'- gggagtgggggtttaggg -3'
Posted On 2014-05-09