Incidental Mutation 'R2943:Reg1'
ID 255823
Institutional Source Beutler Lab
Gene Symbol Reg1
Ensembl Gene ENSMUSG00000059654
Gene Name regenerating islet-derived 1
Synonyms pancreatic stone protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2943 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 78402966-78405651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78405128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 117 (L117Q)
Ref Sequence ENSEMBL: ENSMUSP00000145161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079926] [ENSMUST00000204601] [ENSMUST00000204687]
AlphaFold P43137
Predicted Effect possibly damaging
Transcript: ENSMUST00000079926
AA Change: L117Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078847
Gene: ENSMUSG00000059654
AA Change: L117Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204601
AA Change: L117Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144840
Gene: ENSMUSG00000059654
AA Change: L117Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204687
AA Change: L117Q

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145161
Gene: ENSMUSG00000059654
AA Change: L117Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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 that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, 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 targeted null mutation appear normal. However, [3-H] thymidine incorporation into isolated pancreatic islets was reduced and GTG-induced islet hyperplasia was attenuated, suggesting a role for this gene in islet cell growth or regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anln A G 9: 22,267,342 (GRCm39) probably null Het
Aqp12 A T 1: 92,934,387 (GRCm39) D88V probably damaging Het
Armc5 A C 7: 127,839,752 (GRCm39) N357H probably damaging Het
Atad2b C A 12: 4,992,067 (GRCm39) T222K probably damaging Het
Carmil2 C T 8: 106,419,564 (GRCm39) H815Y probably benign Het
Chrna9 T C 5: 66,134,438 (GRCm39) Y430H probably damaging Het
Eif1ad15 T C 12: 88,288,004 (GRCm39) D83G probably benign Het
Eps8 T C 6: 137,499,870 (GRCm39) D203G probably damaging Het
Galnt6 G T 15: 100,612,160 (GRCm39) probably null Het
Gsdmc C T 15: 63,675,501 (GRCm39) V105I possibly damaging Het
Kntc1 A G 5: 123,935,847 (GRCm39) D1509G possibly damaging Het
Lrp10 C T 14: 54,707,302 (GRCm39) probably benign Het
Mcmbp A T 7: 128,325,697 (GRCm39) L97H probably damaging Het
Mfsd2a A G 4: 122,842,382 (GRCm39) L495P possibly damaging Het
Or52s19 A G 7: 103,007,658 (GRCm39) C248R probably damaging Het
Pank4 G A 4: 155,055,931 (GRCm39) V319I probably benign Het
Pde7a T C 3: 19,284,489 (GRCm39) N365D probably damaging Het
Pot1b A T 17: 55,981,058 (GRCm39) S319T probably benign Het
Rbm25 T C 12: 83,707,415 (GRCm39) I276T probably damaging Het
Ripor3 T C 2: 167,825,681 (GRCm39) H759R possibly damaging Het
Rph3al A T 11: 75,725,714 (GRCm39) probably null Het
S1pr4 A C 10: 81,334,706 (GRCm39) L256R probably damaging Het
Sstr4 T C 2: 148,238,085 (GRCm39) V232A probably damaging Het
Tor3a G A 1: 156,501,665 (GRCm39) P71S probably benign Het
Zfp804a C A 2: 82,066,223 (GRCm39) Q65K probably damaging Het
Other mutations in Reg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02387:Reg1 APN 6 78,404,321 (GRCm39) missense probably damaging 0.96
R0709:Reg1 UTSW 6 78,405,101 (GRCm39) missense possibly damaging 0.93
R1703:Reg1 UTSW 6 78,405,432 (GRCm39) missense probably damaging 1.00
R4006:Reg1 UTSW 6 78,404,013 (GRCm39) missense probably null 0.98
R4007:Reg1 UTSW 6 78,404,013 (GRCm39) missense probably null 0.98
R4780:Reg1 UTSW 6 78,403,333 (GRCm39) missense possibly damaging 0.91
R4983:Reg1 UTSW 6 78,405,196 (GRCm39) missense possibly damaging 0.56
R5884:Reg1 UTSW 6 78,405,200 (GRCm39) missense possibly damaging 0.94
R6213:Reg1 UTSW 6 78,404,386 (GRCm39) missense possibly damaging 0.88
R6222:Reg1 UTSW 6 78,404,357 (GRCm39) missense probably benign 0.40
R8266:Reg1 UTSW 6 78,404,342 (GRCm39) missense possibly damaging 0.93
R9040:Reg1 UTSW 6 78,403,268 (GRCm39) splice site probably benign
Z1088:Reg1 UTSW 6 78,403,901 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGATGGTTTGGTTCACTCTTCAAAC -3'
(R):5'- AATGTAGAATTCCTCTGCCTCTTGC -3'

Sequencing Primer
(F):5'- GGTTCACTCTTCAAACTTTTTGTTG -3'
(R):5'- TTGCCCCAGACCCAGTC -3'
Posted On 2014-12-29