Incidental Mutation 'IGL02236:Reg2'
ID285879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reg2
Ensembl Gene ENSMUSG00000023140
Gene Nameregenerating islet-derived 2
Synonymspancreatic thread protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02236
Quality Score
Status
Chromosome6
Chromosomal Location78395623-78408106 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78406205 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000145184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023906] [ENSMUST00000203657]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023906
AA Change: E45G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023906
Gene: ENSMUSG00000023140
AA Change: E45G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 170 1.15e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203657
AA Change: E45G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145184
Gene: ENSMUSG00000023140
AA Change: E45G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 132 1.4e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired suckling, delayed hypoglossal myelination and reduced liver regeneration following partial hepatectomy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Glipr1l2 A G 10: 112,092,629 Y143C probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Myf5 A G 10: 107,484,190 S200P possibly damaging Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Pramef8 G A 4: 143,416,942 V93I probably benign Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Smap2 T A 4: 120,975,390 M185L probably benign Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Reg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Reg2 APN 6 78406221 nonsense probably null
IGL02146:Reg2 APN 6 78405585 splice site probably benign
IGL02933:Reg2 APN 6 78407934 missense probably damaging 1.00
R0309:Reg2 UTSW 6 78406186 missense possibly damaging 0.90
R4171:Reg2 UTSW 6 78406591 missense probably damaging 1.00
R5196:Reg2 UTSW 6 78405547 nonsense probably null
R6013:Reg2 UTSW 6 78407969 missense possibly damaging 0.94
R6830:Reg2 UTSW 6 78407642 missense possibly damaging 0.94
R7324:Reg2 UTSW 6 78406154 missense probably benign 0.15
Posted On2015-04-16