Incidental Mutation 'R6213:Reg1'
ID 503555
Institutional Source Beutler Lab
Gene Symbol Reg1
Ensembl Gene ENSMUSG00000059654
Gene Name regenerating islet-derived 1
Synonyms pancreatic stone protein
MMRRC Submission 044346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 78402966-78405651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78404386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 87 (I87F)
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: I87F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078847
Gene: ENSMUSG00000059654
AA Change: I87F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204601
AA Change: I87F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144840
Gene: ENSMUSG00000059654
AA Change: I87F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204687
AA Change: I87F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145161
Gene: ENSMUSG00000059654
AA Change: I87F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 35 162 1.17e-34 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,218,762 (GRCm39) Y207H probably damaging Het
Adcy7 G A 8: 89,040,765 (GRCm39) V335M probably damaging Het
Apol11b A C 15: 77,522,200 (GRCm39) D32E possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdkn1b T A 6: 134,898,206 (GRCm39) D108E probably benign Het
Cep290 A G 10: 100,359,222 (GRCm39) D984G probably benign Het
Csde1 T C 3: 102,947,830 (GRCm39) V128A probably damaging Het
Csmd3 A G 15: 47,492,656 (GRCm39) S3162P probably damaging Het
D5Ertd579e G A 5: 36,759,978 (GRCm39) T1394I probably damaging Het
Ddx6 T A 9: 44,539,990 (GRCm39) L306Q probably damaging Het
Dmxl1 T A 18: 49,996,082 (GRCm39) S403T possibly damaging Het
F11 G T 8: 45,694,537 (GRCm39) T608K probably damaging Het
Flrt3 C T 2: 140,503,085 (GRCm39) R181H probably damaging Het
Hs3st1 A T 5: 39,771,864 (GRCm39) C260S probably damaging Het
Ighv7-1 A T 12: 113,860,141 (GRCm39) S84T probably damaging Het
Inpp4b A G 8: 82,724,019 (GRCm39) D332G probably damaging Het
Irf2bpl T C 12: 86,930,367 (GRCm39) Q102R probably benign Het
Itpr3 T A 17: 27,330,174 (GRCm39) D1597E probably benign Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lypd8 A G 11: 58,281,160 (GRCm39) T241A probably benign Het
Map1lc3a T C 2: 155,118,935 (GRCm39) probably null Het
Mast1 G A 8: 85,642,198 (GRCm39) T1052I probably damaging Het
Muc2 T C 7: 141,305,151 (GRCm39) C152R probably damaging Het
Muc5b A T 7: 141,415,903 (GRCm39) M2950L probably benign Het
Muc5b A G 7: 141,421,356 (GRCm39) D4282G possibly damaging Het
Myo16 G T 8: 10,420,963 (GRCm39) probably null Het
Myo9a T A 9: 59,734,541 (GRCm39) F708I probably damaging Het
Nadsyn1 A T 7: 143,353,549 (GRCm39) F558Y probably benign Het
Nat9 A T 11: 115,075,932 (GRCm39) W30R probably damaging Het
Nipbl A G 15: 8,364,390 (GRCm39) L1338S probably damaging Het
Nipsnap3b A G 4: 53,017,066 (GRCm39) T97A probably benign Het
Npepps A T 11: 97,132,823 (GRCm39) Y301* probably null Het
Nrcam C T 12: 44,609,215 (GRCm39) P447S possibly damaging Het
Or14c41 A G 7: 86,234,485 (GRCm39) M1V probably null Het
Or1o4 T C 17: 37,591,264 (GRCm39) S16G probably benign Het
Or2a14 A G 6: 43,130,821 (GRCm39) N194S possibly damaging Het
Or52b4 T C 7: 102,184,139 (GRCm39) Y62H probably damaging Het
Pacsin3 G T 2: 91,090,779 (GRCm39) V29F probably damaging Het
Pdzrn3 A C 6: 101,354,805 (GRCm39) D15E probably damaging Het
Phf20l1 T C 15: 66,504,752 (GRCm39) probably null Het
Pign A C 1: 105,516,991 (GRCm39) V545G possibly damaging Het
Pkhd1 T C 1: 20,593,994 (GRCm39) N1373S possibly damaging Het
Ptchd4 T A 17: 42,688,251 (GRCm39) H264Q probably benign Het
Ptpn3 G T 4: 57,265,012 (GRCm39) Q73K probably damaging Het
Ptrh1 G A 2: 32,666,757 (GRCm39) V109I probably benign Het
Rrp12 C A 19: 41,857,217 (GRCm39) V1186L probably benign Het
Sall1 AGTGGTGGTGGTGGTGGTGGTGG AGTGGTGGTGGTGGTGGTGG 8: 89,759,686 (GRCm39) probably benign Het
Slc23a3 A C 1: 75,108,392 (GRCm39) F279V probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Suds3 A G 5: 117,244,727 (GRCm39) L115P probably damaging Het
Tekt2 G A 4: 126,216,989 (GRCm39) A260V probably damaging Het
Tgfb3 T A 12: 86,104,621 (GRCm39) Y391F probably damaging Het
Topbp1 T C 9: 103,209,950 (GRCm39) S866P probably benign Het
Tspan14 A G 14: 40,635,372 (GRCm39) Y175H probably benign Het
Vars2 T C 17: 35,971,332 (GRCm39) T568A probably benign Het
Vmn1r216 T G 13: 23,283,339 (GRCm39) D7E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp281 T C 1: 136,553,250 (GRCm39) V76A probably benign Het
Zfp36l2 T C 17: 84,493,980 (GRCm39) N219S probably damaging Het
Zfp626 T C 7: 27,507,717 (GRCm39) M42T probably benign Het
Zscan21 C T 5: 138,123,359 (GRCm39) P13S 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
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
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'- TCAGGATCATGCCCTCCTTG -3'
(R):5'- TAATAGTAGGGCCCACACACCTAG -3'

Sequencing Primer
(F):5'- GCCCTTTTCTGACTCTTTCCTTGG -3'
(R):5'- TTCATGAATGAAAGGAATGCTAAGG -3'
Posted On 2018-02-27