Incidental Mutation 'IGL02419:Rapgef3'
ID292564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef3
Ensembl Gene ENSMUSG00000022469
Gene NameRap guanine nucleotide exchange factor (GEF) 3
Synonyms2310016P22Rik, 9330170P05Rik, Epac1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL02419
Quality Score
Status
Chromosome15
Chromosomal Location97744770-97767972 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97750290 bp
ZygosityHeterozygous
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] [ENSMUST00000175894] [ENSMUST00000177352]
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 noncoding transcript
Transcript: ENSMUST00000146214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155810
Predicted Effect probably benign
Transcript: ENSMUST00000175894
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
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: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Rapgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Rapgef3 APN 15 97748223 missense probably damaging 1.00
IGL01339:Rapgef3 APN 15 97758059 missense probably damaging 1.00
IGL01670:Rapgef3 APN 15 97749662 missense probably benign 0.15
IGL01902:Rapgef3 APN 15 97750300 missense probably benign 0.32
IGL02137:Rapgef3 APN 15 97750144 missense probably benign 0.08
IGL02427:Rapgef3 APN 15 97747136 splice site probably null
IGL02648:Rapgef3 APN 15 97758392 missense probably damaging 1.00
IGL02834:Rapgef3 APN 15 97748265 missense probably damaging 0.98
IGL03389:Rapgef3 APN 15 97749516 missense probably damaging 1.00
IGL03055:Rapgef3 UTSW 15 97749489 splice site probably benign
R0394:Rapgef3 UTSW 15 97757819 intron probably benign
R0538:Rapgef3 UTSW 15 97757817 intron probably benign
R0744:Rapgef3 UTSW 15 97761585 splice site probably benign
R1288:Rapgef3 UTSW 15 97759342 missense probably benign 0.31
R1512:Rapgef3 UTSW 15 97757501 missense probably benign 0.24
R1676:Rapgef3 UTSW 15 97761182 missense probably benign 0.35
R1745:Rapgef3 UTSW 15 97750178 missense probably benign 0.22
R1928:Rapgef3 UTSW 15 97750033 missense probably damaging 1.00
R2063:Rapgef3 UTSW 15 97766961 missense probably damaging 1.00
R2067:Rapgef3 UTSW 15 97766961 missense probably damaging 1.00
R2092:Rapgef3 UTSW 15 97760723 missense probably damaging 1.00
R4358:Rapgef3 UTSW 15 97748648 missense probably benign 0.05
R4624:Rapgef3 UTSW 15 97758929 missense probably damaging 1.00
R4627:Rapgef3 UTSW 15 97758929 missense probably damaging 1.00
R4727:Rapgef3 UTSW 15 97760600 missense probably damaging 1.00
R4812:Rapgef3 UTSW 15 97753803 missense probably benign 0.21
R4928:Rapgef3 UTSW 15 97757375 missense probably damaging 1.00
R5161:Rapgef3 UTSW 15 97757725 missense probably damaging 1.00
R5442:Rapgef3 UTSW 15 97758861 missense probably damaging 0.99
R5652:Rapgef3 UTSW 15 97758437 missense probably benign 0.00
R5837:Rapgef3 UTSW 15 97757342 splice site probably benign
R6056:Rapgef3 UTSW 15 97758861 missense probably damaging 0.99
R6167:Rapgef3 UTSW 15 97767411 unclassified probably benign
R6694:Rapgef3 UTSW 15 97759984 missense probably benign 0.03
X0011:Rapgef3 UTSW 15 97761473 critical splice donor site probably null
Posted On2015-04-16