Incidental Mutation 'R4171:Reg2'
ID 318132
Institutional Source Beutler Lab
Gene Symbol Reg2
Ensembl Gene ENSMUSG00000023140
Gene Name regenerating islet-derived 2
Synonyms pancreatic thread protein
MMRRC Submission 041011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4171 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 78382138-78385082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78383574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 99 (G99D)
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: G99D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023906
Gene: ENSMUSG00000023140
AA Change: G99D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 170 1.15e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203657
AA Change: G99D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145184
Gene: ENSMUSG00000023140
AA Change: G99D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 132 1.4e-9 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
2310022A10Rik A G 7: 27,265,109 (GRCm39) N87S probably benign Het
Apmap A G 2: 150,425,987 (GRCm39) V387A probably benign Het
B130024G19Rik C T 7: 70,038,454 (GRCm39) noncoding transcript Het
Cd200r1 A G 16: 44,613,127 (GRCm39) I244M probably damaging Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Col11a1 A G 3: 114,001,863 (GRCm39) D429G probably damaging Het
Dsg4 T A 18: 20,591,636 (GRCm39) Y458* probably null Het
Elapor1 G T 3: 108,368,259 (GRCm39) Q885K probably benign Het
Fbxl13 A G 5: 21,748,786 (GRCm39) Y378H probably benign Het
Ifi203 A C 1: 173,761,341 (GRCm39) probably benign Het
Ifna6 T C 4: 88,746,038 (GRCm39) V129A probably benign Het
Igkv3-4 G A 6: 70,649,324 (GRCm39) A108T probably damaging Het
Itga1 G A 13: 115,167,422 (GRCm39) Q165* probably null Het
Kdm4c T A 4: 74,199,135 (GRCm39) Y108N possibly damaging Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lrfn5 G A 12: 61,890,168 (GRCm39) V486I probably damaging Het
Mep1b A T 18: 21,228,163 (GRCm39) probably null Het
Mettl6 T C 14: 31,215,624 (GRCm39) N52S probably damaging Het
Nup54 A G 5: 92,565,343 (GRCm39) I458T possibly damaging Het
Or1e16 A C 11: 73,286,365 (GRCm39) L161R probably damaging Het
Or6c204 G A 10: 129,022,453 (GRCm39) A279V probably benign Het
Pecr A T 1: 72,315,428 (GRCm39) N107K probably damaging Het
Pnpla6 A G 8: 3,593,997 (GRCm39) Q1307R probably benign Het
Poll T C 19: 45,544,492 (GRCm39) K310E probably damaging Het
Rab29 A G 1: 131,795,475 (GRCm39) Q29R probably benign Het
Rftn2 G A 1: 55,253,429 (GRCm39) S58L probably damaging Het
Rps6kb1 T C 11: 86,435,405 (GRCm39) E43G possibly damaging Het
Sdk2 T C 11: 113,757,815 (GRCm39) probably null Het
Slc38a6 T A 12: 73,397,326 (GRCm39) Y323N probably benign Het
Sp100 T C 1: 85,634,562 (GRCm39) S152P probably benign Het
Tmc5 A G 7: 118,248,810 (GRCm39) Y605C probably damaging Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Vmn1r44 T A 6: 89,870,996 (GRCm39) F247L probably damaging Het
Zbtb39 C T 10: 127,578,236 (GRCm39) T270I possibly damaging Het
Zfp512b G A 2: 181,232,391 (GRCm39) probably null Het
Zwilch T A 9: 64,065,997 (GRCm39) R255* probably null 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
IGL02933:Reg2 APN 6 78,384,917 (GRCm39) missense probably damaging 1.00
R0309:Reg2 UTSW 6 78,383,169 (GRCm39) missense possibly damaging 0.90
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
Predicted Primers PCR Primer
(F):5'- TCATAAGATAGGGCAGATCGC -3'
(R):5'- TGGCATCCACAAAGCATGTTG -3'

Sequencing Primer
(F):5'- AGGGCAGATCGCAAATTTTTCCC -3'
(R):5'- TGCTTTTCTATGAGTGTTGTAAAGG -3'
Posted On 2015-06-10