Incidental Mutation 'R5824:Reg3b'
ID 450065
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 043216-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5824 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 78347868-78350449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78349104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 77 (V77I)
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 probably benign
Transcript: ENSMUST00000096904
AA Change: V77I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000094667
Gene: ENSMUSG00000071356
AA Change: V77I

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 possibly damaging
Transcript: ENSMUST00000203266
AA Change: V77I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145528
Gene: ENSMUSG00000071356
AA Change: V77I

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: V77I

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145280
Gene: ENSMUSG00000071356
AA Change: V77I

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A T 13: 59,613,913 (GRCm39) H66Q probably damaging Het
Ap1g1 T A 8: 110,565,544 (GRCm39) probably null Het
Ap4b1 A T 3: 103,720,701 (GRCm39) I124F probably benign Het
Arhgap10 A T 8: 78,085,181 (GRCm39) Y462* probably null Het
Btnl10 G T 11: 58,814,266 (GRCm39) M315I probably benign Het
Cep295 A G 9: 15,236,952 (GRCm39) V1994A possibly damaging Het
Cherp G A 8: 73,216,102 (GRCm39) probably benign Het
Ckap5 G A 2: 91,389,481 (GRCm39) A318T probably benign Het
Cma1 T C 14: 56,179,182 (GRCm39) K238E possibly damaging Het
Cspg4b T A 13: 113,505,154 (GRCm39) H2094Q probably damaging Het
Ctif T C 18: 75,743,749 (GRCm39) D141G possibly damaging Het
Ctnna1 T C 18: 35,312,939 (GRCm39) S264P probably benign Het
Dnah12 G T 14: 26,492,475 (GRCm39) probably null Het
Dnah5 A G 15: 28,313,967 (GRCm39) T1928A probably benign Het
Etfdh G A 3: 79,517,252 (GRCm39) P379L probably damaging Het
Gfra3 T C 18: 34,844,264 (GRCm39) N92S probably damaging Het
Gpr161 C A 1: 165,138,560 (GRCm39) T382K possibly damaging Het
Gspt2 T C X: 93,680,071 (GRCm39) V70A possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Kpna1 A G 16: 35,840,575 (GRCm39) D205G possibly damaging Het
Man2a2 T G 7: 80,002,780 (GRCm39) D1067A probably benign Het
Map3k4 G A 17: 12,448,526 (GRCm39) H1551Y probably damaging Het
Moxd1 A T 10: 24,162,995 (GRCm39) I486F probably damaging Het
Notch3 G T 17: 32,372,835 (GRCm39) R579S possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or6c65 T C 10: 129,604,250 (GRCm39) V295A probably damaging Het
Or8b4 A G 9: 37,830,861 (GRCm39) T308A probably benign Het
Pira13 T C 7: 3,827,753 (GRCm39) T135A probably damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Terb1 T C 8: 105,212,079 (GRCm39) T301A probably benign Het
Tmem260 G A 14: 48,742,785 (GRCm39) C540Y probably damaging Het
Tmprss15 A T 16: 78,831,201 (GRCm39) F385I probably damaging Het
Trbv12-2 G A 6: 41,095,774 (GRCm39) probably benign Het
Upk3bl T A 5: 136,089,133 (GRCm39) Y196* probably null Het
Vmn1r199 A T 13: 22,567,748 (GRCm39) K304N 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
R5301:Reg3b UTSW 6 78,348,243 (GRCm39) missense probably damaging 0.96
R5344:Reg3b UTSW 6 78,349,843 (GRCm39) missense probably benign 0.02
R5408:Reg3b UTSW 6 78,350,215 (GRCm39) missense probably benign
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'- GGTTTGATGCAGAAGTAAGTGC -3'
(R):5'- TTTCCAGGTTCACTCTGGGG -3'

Sequencing Primer
(F):5'- TACACAAGGAACACACGGAAATG -3'
(R):5'- GGGACGCATAGATAATGTATTCCCC -3'
Posted On 2016-12-20