Incidental Mutation 'R5301:Reg3b'
ID 404241
Institutional Source Beutler Lab
Gene Symbol Reg3b
Ensembl Gene ENSMUSG00000071356
Gene Name regenerating islet-derived 3 beta
Synonyms REG-III, PAP1, RegIII (beta), Pap
MMRRC Submission 042884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5301 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 78347868-78350449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78348243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 19 (M19K)
Ref Sequence ENSEMBL: ENSMUSP00000145528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089667] [ENSMUST00000096904] [ENSMUST00000167492] [ENSMUST00000203266] [ENSMUST00000204873] [ENSMUST00000205240]
AlphaFold P35230
Predicted Effect probably benign
Transcript: ENSMUST00000089667
SMART Domains Protein: ENSMUSP00000087096
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 172 6.99e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000096904
AA Change: M19K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094667
Gene: ENSMUSG00000071356
AA Change: M19K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 172 1.12e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167492
SMART Domains Protein: ENSMUSP00000132220
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 126 1.66e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203266
AA Change: M19K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145528
Gene: ENSMUSG00000071356
AA Change: M19K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 143 5e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204760
Predicted Effect possibly damaging
Transcript: ENSMUST00000204873
AA Change: M19K

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145280
Gene: ENSMUSG00000071356
AA Change: M19K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 140 1.6e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205240
SMART Domains Protein: ENSMUSP00000144715
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 126 1.66e-1 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (52/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]
PHENOTYPE: Male homozygous mice exhibit impaired glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,896,502 (GRCm39) V578A probably damaging Het
Abcb11 T C 2: 69,117,191 (GRCm39) I486V probably damaging Het
Abcc9 G A 6: 142,536,207 (GRCm39) T1509I probably benign Het
Akr1c20 T A 13: 4,573,279 (GRCm39) D12V probably damaging Het
Asb1 A G 1: 91,482,475 (GRCm39) Y66C probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Bcl10 A G 3: 145,636,342 (GRCm39) D80G probably damaging Het
Bdnf T C 2: 109,553,884 (GRCm39) V46A probably benign Het
Cyp11a1 A G 9: 57,926,544 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,725,326 (GRCm39) S292P probably damaging Het
Desi2 A G 1: 178,071,952 (GRCm39) I85M probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock10 T C 1: 80,625,973 (GRCm39) D49G probably benign Het
Epcam T A 17: 87,944,305 (GRCm39) L20Q possibly damaging Het
Ercc4 T C 16: 12,948,550 (GRCm39) V589A probably damaging Het
Fcgbp A T 7: 27,793,099 (GRCm39) K1034N possibly damaging Het
Fras1 C T 5: 96,805,125 (GRCm39) L1256F possibly damaging Het
Gata5 T C 2: 179,975,786 (GRCm39) Y126C probably damaging Het
Gja1 T C 10: 56,264,475 (GRCm39) L278P probably damaging Het
Gm11596 C A 11: 99,683,847 (GRCm39) R91L unknown Het
Gm29125 A T 1: 80,362,154 (GRCm39) noncoding transcript Het
Hcrtr1 G T 4: 130,031,463 (GRCm39) probably null Het
Ifi207 G A 1: 173,556,977 (GRCm39) S587L possibly damaging Het
Ino80d T C 1: 63,113,578 (GRCm39) T291A probably benign Het
Itgb3 A G 11: 104,524,480 (GRCm39) probably null Het
Kif26b A G 1: 178,358,233 (GRCm39) S115G unknown Het
Klc3 T C 7: 19,130,274 (GRCm39) Y301C probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Meioc A T 11: 102,570,871 (GRCm39) R867S probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mthfd2 C A 6: 83,287,465 (GRCm39) G200V probably damaging Het
Nrap A G 19: 56,367,541 (GRCm39) I312T probably damaging Het
Nrp1 T G 8: 129,160,678 (GRCm39) probably null Het
Obscn A G 11: 59,026,234 (GRCm39) L323P probably damaging Het
Or11g1 T C 14: 50,651,030 (GRCm39) S10P probably benign Het
Or1b1 C T 2: 36,995,210 (GRCm39) V151M probably benign Het
Or9i14 G A 19: 13,792,933 (GRCm39) T7I probably damaging Het
Pkn2 A C 3: 142,544,967 (GRCm39) probably null Het
Ppp1r18 A G 17: 36,179,237 (GRCm39) R371G probably benign Het
Prkar2b A C 12: 32,025,927 (GRCm39) V31G probably damaging Het
Sec14l2 G A 11: 4,068,727 (GRCm39) probably benign Het
Sgca C T 11: 94,854,157 (GRCm39) R104Q probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Sorcs2 A G 5: 36,196,734 (GRCm39) V637A probably damaging Het
Tdrd9 T A 12: 112,002,963 (GRCm39) probably null Het
Tmem181a T C 17: 6,346,070 (GRCm39) I229T possibly damaging Het
Tmpo A T 10: 90,985,650 (GRCm39) probably benign Het
Ttc41 T C 10: 86,555,384 (GRCm39) V280A probably benign Het
Vmn1r234 G T 17: 21,449,589 (GRCm39) V168F probably benign Het
Vmn2r96 T A 17: 18,817,950 (GRCm39) I701N probably damaging Het
Wnt16 T A 6: 22,297,848 (GRCm39) M238K probably damaging Het
Zfp607b A G 7: 27,403,172 (GRCm39) T543A probably benign Het
Other mutations in Reg3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03143:Reg3b APN 6 78,349,183 (GRCm39) nonsense probably null
R0017:Reg3b UTSW 6 78,349,844 (GRCm39) missense possibly damaging 0.48
R0017:Reg3b UTSW 6 78,349,844 (GRCm39) missense possibly damaging 0.48
R0413:Reg3b UTSW 6 78,348,824 (GRCm39) missense probably damaging 1.00
R1321:Reg3b UTSW 6 78,349,936 (GRCm39) splice site probably null
R1794:Reg3b UTSW 6 78,349,197 (GRCm39) splice site probably null
R1960:Reg3b UTSW 6 78,348,797 (GRCm39) missense probably damaging 0.98
R2513:Reg3b UTSW 6 78,348,802 (GRCm39) missense probably benign 0.00
R3877:Reg3b UTSW 6 78,348,216 (GRCm39) missense possibly damaging 0.65
R4033:Reg3b UTSW 6 78,350,192 (GRCm39) missense possibly damaging 0.71
R4874:Reg3b UTSW 6 78,349,809 (GRCm39) missense possibly damaging 0.53
R5118:Reg3b UTSW 6 78,349,111 (GRCm39) missense probably damaging 1.00
R5344:Reg3b UTSW 6 78,349,843 (GRCm39) missense probably benign 0.02
R5408:Reg3b UTSW 6 78,350,215 (GRCm39) missense probably benign
R5824:Reg3b UTSW 6 78,349,104 (GRCm39) missense possibly damaging 0.83
R6643:Reg3b UTSW 6 78,349,905 (GRCm39) missense possibly damaging 0.53
R9055:Reg3b UTSW 6 78,349,886 (GRCm39) missense possibly damaging 0.57
Z1176:Reg3b UTSW 6 78,349,811 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGGTATTTAGGAAGTTCTCAGGGAG -3'
(R):5'- TCTTTCCACAGAGATGACCCG -3'

Sequencing Primer
(F):5'- ATTTCCACTTAATTCCTGTATCACAG -3'
(R):5'- ACAGAGATGACCCGTCTGATATCTTC -3'
Posted On 2016-07-22