Incidental Mutation 'IGL02419:Rapgef3'
ID 292564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef3
Ensembl Gene ENSMUSG00000022469
Gene Name Rap guanine nucleotide exchange factor (GEF) 3
Synonyms Epac1, 9330170P05Rik, 2310016P22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # IGL02419
Quality Score
Status
Chromosome 15
Chromosomal Location 97642651-97665853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97648171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 679 (N679K)
Ref Sequence ENSEMBL: ENSMUSP00000118148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126854] [ENSMUST00000128775] [ENSMUST00000129223] [ENSMUST00000134885] [ENSMUST00000177352] [ENSMUST00000175894]
AlphaFold Q8VCC8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125002
Predicted Effect probably benign
Transcript: ENSMUST00000126854
AA Change: N679K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: N679K

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: N679K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: N679K

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: N679K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: N679K

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: ENSMUST00000177352
AA Change: N637K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: N637K

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: ENSMUST00000155810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146214
Predicted Effect probably benign
Transcript: ENSMUST00000175894
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G 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
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
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
Posted On 2015-04-16