Incidental Mutation 'IGL01314:Rapgef3'
ID73788
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: 0.208) question?
Stock #IGL01314
Quality Score
Status
Chromosome15
Chromosomal Location97744770-97767972 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97748223 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 132 (F132S)
Ref Sequence ENSEMBL: ENSMUSP00000135317 (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 damaging
Transcript: ENSMUST00000126854
AA Change: F842S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: F842S

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 damaging
Transcript: ENSMUST00000128775
AA Change: F825S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: F825S

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 damaging
Transcript: ENSMUST00000129223
AA Change: F834S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: F834S

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 damaging
Transcript: ENSMUST00000134885
AA Change: F132S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469
AA Change: F132S

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 damaging
Transcript: ENSMUST00000177352
AA Change: F800S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: F800S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A C 10: 100,573,611 D313E probably damaging Het
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I497T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S45* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1273P probably damaging Het
Man2c1 A T 9: 57,141,819 H867L probably benign Het
Mgat4e T C 1: 134,541,449 T286A probably damaging Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 E128D probably damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Prcc T A 3: 87,870,080 N196Y probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rgs13 T G 1: 144,171,441 D14A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in Rapgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02419:Rapgef3 APN 15 97750290 missense probably benign 0.33
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
R7039:Rapgef3 UTSW 15 97761568 missense probably benign 0.01
R7154:Rapgef3 UTSW 15 97753877 missense probably benign
R7380:Rapgef3 UTSW 15 97766791 missense probably benign 0.00
R7655:Rapgef3 UTSW 15 97761209 missense probably damaging 1.00
R7656:Rapgef3 UTSW 15 97761209 missense probably damaging 1.00
R7754:Rapgef3 UTSW 15 97757746 missense probably damaging 1.00
R7849:Rapgef3 UTSW 15 97758390 critical splice donor site probably null
R7932:Rapgef3 UTSW 15 97758390 critical splice donor site probably null
R8061:Rapgef3 UTSW 15 97761520 missense probably benign
RF024:Rapgef3 UTSW 15 97760740 missense probably benign 0.06
X0011:Rapgef3 UTSW 15 97761473 critical splice donor site probably null
Posted On2013-10-07