Incidental Mutation 'R6830:Reg2'
ID 534346
Institutional Source Beutler Lab
Gene Symbol Reg2
Ensembl Gene ENSMUSG00000023140
Gene Name regenerating islet-derived 2
Synonyms pancreatic thread protein
MMRRC Submission 044940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6830 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 78382138-78385082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78384625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 119 (H119R)
Ref Sequence ENSEMBL: ENSMUSP00000145184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023906] [ENSMUST00000203657]
AlphaFold Q08731
Predicted Effect possibly damaging
Transcript: ENSMUST00000023906
AA Change: H119R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023906
Gene: ENSMUSG00000023140
AA Change: H119R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 170 1.15e-33 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203657
AA Change: H119R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145184
Gene: ENSMUSG00000023140
AA Change: H119R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 43 132 1.4e-9 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T C 3: 146,356,716 (GRCm39) D64G possibly damaging Het
Amtn T C 5: 88,525,956 (GRCm39) L40P probably damaging Het
Ano6 A G 15: 95,792,342 (GRCm39) R90G probably damaging Het
Arfgef3 A C 10: 18,540,637 (GRCm39) probably null Het
Asxl3 C T 18: 22,658,445 (GRCm39) P2152S probably benign Het
Atp7b A T 8: 22,512,381 (GRCm39) V494E probably damaging Het
Bik T A 15: 83,428,409 (GRCm39) Y146N probably benign Het
C1qtnf7 A T 5: 43,766,436 (GRCm39) I12F possibly damaging Het
Cacna1e A G 1: 154,289,720 (GRCm39) probably null Het
Ccdc168 A G 1: 44,095,890 (GRCm39) V1736A probably benign Het
Ccnj A G 19: 40,833,636 (GRCm39) E231G probably damaging Het
Cd101 T C 3: 100,901,012 (GRCm39) K1020R probably benign Het
Cdh6 C A 15: 13,044,860 (GRCm39) V421L probably benign Het
Cplane1 T C 15: 8,205,668 (GRCm39) S135P probably benign Het
Decr1 T C 4: 15,924,355 (GRCm39) probably null Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Epx A G 11: 87,759,452 (GRCm39) F546L probably damaging Het
Fat4 T A 3: 39,035,966 (GRCm39) M3206K probably benign Het
Fgb T C 3: 82,952,332 (GRCm39) D179G probably benign Het
Gbgt1 A G 2: 28,395,220 (GRCm39) D286G probably damaging Het
Gpn1 T A 5: 31,664,832 (GRCm39) S285R probably benign Het
Htt T A 5: 34,991,670 (GRCm39) Y1212N possibly damaging Het
Kcnj13 T C 1: 87,314,745 (GRCm39) K159R probably damaging Het
Ldb2 T A 5: 44,699,199 (GRCm39) I80F probably damaging Het
Macrod2 T A 2: 140,294,602 (GRCm39) N89K probably damaging Het
Mdga2 G A 12: 66,769,775 (GRCm39) R173C probably damaging Het
Mroh9 A G 1: 162,903,935 (GRCm39) F26L probably benign Het
Neil3 G T 8: 54,052,514 (GRCm39) N361K probably benign Het
Nepro A G 16: 44,551,720 (GRCm39) R193G probably damaging Het
Or52d3 T A 7: 104,229,447 (GRCm39) I198N probably damaging Het
Pclo A T 5: 14,731,113 (GRCm39) Q3205L unknown Het
Plekhm1 A T 11: 103,267,715 (GRCm39) I752N probably damaging Het
Podn T C 4: 107,878,614 (GRCm39) T273A possibly damaging Het
Prep T A 10: 44,973,597 (GRCm39) M235K probably benign Het
Ptprc A T 1: 137,999,993 (GRCm39) probably null Het
Rpe65 T C 3: 159,319,805 (GRCm39) V225A probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Slc25a23 G A 17: 57,360,804 (GRCm39) R9* probably null Het
Snai3 A G 8: 123,183,212 (GRCm39) L111P probably damaging Het
Stk38 A G 17: 29,218,981 (GRCm39) probably null Het
Stk38l A T 6: 146,668,269 (GRCm39) I115F possibly damaging Het
Tmco6 T A 18: 36,871,406 (GRCm39) probably null Het
Tollip A T 7: 141,452,451 (GRCm39) M1K probably null Het
Trim40 T C 17: 37,199,742 (GRCm39) Y112C possibly damaging Het
Ttc27 T A 17: 75,163,550 (GRCm39) Y719* probably null Het
Ubald1 T C 16: 4,697,584 (GRCm39) D6G probably damaging Het
Vmn2r59 A T 7: 41,693,171 (GRCm39) S476R probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zbtb21 C T 16: 97,753,161 (GRCm39) G402D probably damaging Het
Zfp84 A G 7: 29,475,911 (GRCm39) Y201C probably benign Het
Zswim2 T A 2: 83,770,028 (GRCm39) H62L probably 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
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
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
R7324:Reg2 UTSW 6 78,383,137 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GAGTTAAATAAATCCTTTCCTCCCC -3'
(R):5'- ATTCCTCTATCAGCAGGCCC -3'

Sequencing Primer
(F):5'- TCTCTGAAGGAGAATGGAAGGAATTG -3'
(R):5'- TCTATCAGCAGGCCCAGGTAC -3'
Posted On 2018-09-12