Incidental Mutation 'IGL02933:Reg2'
ID 364187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reg2
Ensembl Gene ENSMUSG00000023140
Gene Name regenerating islet-derived 2
Synonyms pancreatic thread protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02933
Quality Score
Status
Chromosome 6
Chromosomal Location 78382138-78385082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78384917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 153 (Y153C)
Ref Sequence ENSEMBL: ENSMUSP00000023906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023906] [ENSMUST00000203657]
AlphaFold Q08731
Predicted Effect probably damaging
Transcript: ENSMUST00000023906
AA Change: Y153C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023906
Gene: ENSMUSG00000023140
AA Change: Y153C

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

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,012,436 (GRCm39) S24Y possibly damaging Het
Adam15 T C 3: 89,250,790 (GRCm39) T609A possibly damaging Het
Ank1 C T 8: 23,612,881 (GRCm39) T1485I possibly damaging Het
Bbof1 A G 12: 84,473,740 (GRCm39) N357D probably damaging Het
Btn1a1 A G 13: 23,644,697 (GRCm39) F267S possibly damaging Het
C2cd2 A T 16: 97,693,401 (GRCm39) F157I probably benign Het
Cd55 T C 1: 130,380,261 (GRCm39) E239G probably damaging Het
Cnpy1 T A 5: 28,412,119 (GRCm39) H138L probably benign Het
Cpne4 T C 9: 104,896,966 (GRCm39) V373A possibly damaging Het
Dlg5 A T 14: 24,208,567 (GRCm39) S880T probably benign Het
Etv1 C T 12: 38,831,832 (GRCm39) T27I probably benign Het
Fam227b T A 2: 125,965,908 (GRCm39) probably null Het
Flcn T C 11: 59,694,583 (GRCm39) S130G probably damaging Het
Flvcr2 T C 12: 85,849,902 (GRCm39) probably benign Het
Git1 C A 11: 77,391,902 (GRCm39) H241Q probably damaging Het
Gm14496 T A 2: 181,642,256 (GRCm39) H642Q probably benign Het
Idh1 C T 1: 65,201,072 (GRCm39) S293N probably damaging Het
Itpr2 A G 6: 146,214,402 (GRCm39) S1449P probably benign Het
Mmel1 T A 4: 154,968,087 (GRCm39) L141Q probably damaging Het
Morn4 A G 19: 42,064,661 (GRCm39) I109T probably benign Het
Mrgprh T C 17: 13,096,596 (GRCm39) Y279H probably damaging Het
Or1ak2 T A 2: 36,827,310 (GRCm39) Y60N probably damaging Het
Osbpl8 T C 10: 111,117,991 (GRCm39) I578T probably damaging Het
Sall2 T C 14: 52,550,484 (GRCm39) S902G probably benign Het
Sesn3 C T 9: 14,232,504 (GRCm39) T259M probably damaging Het
Traf1 C A 2: 34,839,107 (GRCm39) D73Y possibly damaging Het
Trnt1 G A 6: 106,750,387 (GRCm39) G97D probably benign Het
Ttll11 T C 2: 35,869,422 (GRCm39) H72R probably benign Het
Txndc12 T C 4: 108,715,193 (GRCm39) probably null Het
Zan C A 5: 137,426,676 (GRCm39) S2490I unknown Het
Zfp955a T C 17: 33,462,683 (GRCm39) probably null Het
Zfyve26 A C 12: 79,326,854 (GRCm39) S756R possibly damaging Het
Zmynd8 T C 2: 165,670,238 (GRCm39) N412S possibly damaging Het
Other mutations in Reg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Reg2 APN 6 78,383,204 (GRCm39) nonsense probably null
IGL02146:Reg2 APN 6 78,382,568 (GRCm39) splice site probably benign
IGL02236:Reg2 APN 6 78,383,188 (GRCm39) missense probably damaging 1.00
R0309:Reg2 UTSW 6 78,383,169 (GRCm39) missense possibly damaging 0.90
R4171:Reg2 UTSW 6 78,383,574 (GRCm39) missense probably damaging 1.00
R5196:Reg2 UTSW 6 78,382,530 (GRCm39) nonsense probably null
R6013:Reg2 UTSW 6 78,384,952 (GRCm39) missense possibly damaging 0.94
R6830:Reg2 UTSW 6 78,384,625 (GRCm39) missense possibly damaging 0.94
R7324:Reg2 UTSW 6 78,383,137 (GRCm39) missense probably benign 0.15
Posted On 2015-12-18