Incidental Mutation 'IGL00332:Reg2'
ID5426
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 #IGL00332
Quality Score
Status
Chromosome6
Chromosomal Location78395623-78408106 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 78406221 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 50 (Y50*)
Ref Sequence ENSEMBL: ENSMUSP00000145184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023906] [ENSMUST00000203657]
Predicted Effect probably null
Transcript: ENSMUST00000023906
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000023906
Gene: ENSMUSG00000023140
AA Change: Y50*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 170 1.15e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000203657
AA Change: Y50*
SMART Domains Protein: ENSMUSP00000145184
Gene: ENSMUSG00000023140
AA Change: Y50*

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Reg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Reg2 APN 6 78405585 splice site probably benign
IGL02236:Reg2 APN 6 78406205 missense probably damaging 1.00
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 On2012-04-20