Incidental Mutation 'R4007:Reg1'
ID 311521
Institutional Source Beutler Lab
Gene Symbol Reg1
Ensembl Gene ENSMUSG00000059654
Gene Name regenerating islet-derived 1
Synonyms pancreatic stone protein
MMRRC Submission 041610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4007 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 78402966-78405651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78404013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000145161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079926] [ENSMUST00000204601] [ENSMUST00000204687]
AlphaFold P43137
Predicted Effect probably null
Transcript: ENSMUST00000079926
AA Change: D60G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078847
Gene: ENSMUSG00000059654
AA Change: D60G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204601
AA Change: D60G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144840
Gene: ENSMUSG00000059654
AA Change: D60G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204687
AA Change: D60G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145161
Gene: ENSMUSG00000059654
AA Change: D60G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Meta Mutation Damage Score 0.3654 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 98% (49/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Aff1 A T 5: 103,932,088 (GRCm39) K243N probably benign Het
Aknad1 T C 3: 108,682,598 (GRCm39) I558T probably benign Het
Ampd1 A G 3: 102,999,776 (GRCm39) I460V probably damaging Het
Atp10b A T 11: 43,150,679 (GRCm39) H1459L probably benign Het
Card9 T A 2: 26,243,012 (GRCm39) R459W possibly damaging Het
Chd3 A T 11: 69,239,827 (GRCm39) I1667N probably benign Het
Col6a3 A G 1: 90,730,291 (GRCm39) S1672P probably damaging Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dhx37 G A 5: 125,501,995 (GRCm39) probably benign Het
Dnah1 T C 14: 31,025,741 (GRCm39) probably benign Het
Elp1 G A 4: 56,794,139 (GRCm39) T168I probably damaging Het
Erbb4 C A 1: 68,779,560 (GRCm39) R72L probably damaging Het
F11r A G 1: 171,288,916 (GRCm39) K178R probably benign Het
Fan1 A G 7: 64,016,309 (GRCm39) L605P probably damaging Het
Fcna A G 2: 25,516,018 (GRCm39) probably null Het
Filip1 A G 9: 79,726,009 (GRCm39) I870T possibly damaging Het
Gm11595 C T 11: 99,662,861 (GRCm39) C273Y unknown Het
Gml T A 15: 74,685,548 (GRCm39) I146L possibly damaging Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Ifitm6 T A 7: 140,596,627 (GRCm39) I69F possibly damaging Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Kazn T C 4: 141,834,203 (GRCm39) T618A unknown Het
Mrps5 C A 2: 127,433,755 (GRCm39) T48K possibly damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Opn4 A T 14: 34,321,789 (GRCm39) S43T probably benign Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Plcb2 T C 2: 118,541,274 (GRCm39) E1021G probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Rbsn T A 6: 92,166,800 (GRCm39) T615S probably benign Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Rpap2 A G 5: 107,751,738 (GRCm39) I129V probably damaging Het
Rubcnl G T 14: 75,287,143 (GRCm39) V604L possibly damaging Het
Slc26a4 T A 12: 31,590,532 (GRCm39) K374* probably null Het
Slc4a4 T A 5: 89,362,452 (GRCm39) S854R probably damaging Het
Sv2c A G 13: 96,123,341 (GRCm39) probably benign Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tnik A G 3: 28,658,430 (GRCm39) S572G probably damaging Het
Trbv13-3 T C 6: 41,107,120 (GRCm39) C14R probably benign Het
Ttc7 G A 17: 87,597,679 (GRCm39) D84N possibly damaging Het
Ubtd1 G T 19: 42,020,555 (GRCm39) G100* probably null Het
Vmn2r18 A T 5: 151,508,711 (GRCm39) W138R probably damaging Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zfp385b C T 2: 77,549,836 (GRCm39) G83D probably benign Het
Zfp493 A G 13: 67,932,038 (GRCm39) probably benign 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
R2943:Reg1 UTSW 6 78,405,128 (GRCm39) missense possibly damaging 0.94
R4006: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'- GGTAGCCATCCCAAGTCTATTC -3'
(R):5'- TCCCAGGATCTCTGTTTGGG -3'

Sequencing Primer
(F):5'- ATTCTGTATCCAAGGTCCTACAG -3'
(R):5'- GATCTCTGTTTGGGAAGGTATAAAAC -3'
Posted On 2015-04-29