Incidental Mutation 'IGL01410:Pgc'
ID 79978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgc
Ensembl Gene ENSMUSG00000023987
Gene Name progastricsin (pepsinogen C)
Synonyms Upg-1, 2210410L06Rik, Upg1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01410
Quality Score
Status
Chromosome 17
Chromosomal Location 48037767-48045403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48045165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 361 (G361V)
Ref Sequence ENSEMBL: ENSMUSP00000024782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000126258] [ENSMUST00000144955]
AlphaFold Q9D7R7
Predicted Effect probably damaging
Transcript: ENSMUST00000024782
AA Change: G361V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: G361V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:A1_Propeptide 18 46 2.1e-17 PFAM
Pfam:Asp 75 391 6.3e-118 PFAM
Pfam:TAXi_N 76 232 7.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086932
SMART Domains Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113284
SMART Domains Protein: ENSMUSP00000108909
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
Pfam:HLH 235 266 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113288
SMART Domains Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126258
Predicted Effect probably benign
Transcript: ENSMUST00000144955
SMART Domains Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:A1_Propeptide 18 46 1.5e-18 PFAM
Pfam:Asp 63 143 1.4e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,145,184 (GRCm39) probably null Het
Aspm C T 1: 139,410,182 (GRCm39) T1359I probably benign Het
Atp13a2 A G 4: 140,719,509 (GRCm39) D26G probably benign Het
Atrnl1 G A 19: 58,119,536 (GRCm39) A1343T probably damaging Het
Ccsap A C 8: 124,585,969 (GRCm39) S61A probably damaging Het
Cdh1 A T 8: 107,384,485 (GRCm39) M318L probably benign Het
Cfap69 G A 5: 5,696,979 (GRCm39) P106S probably damaging Het
Cfp G A X: 20,795,963 (GRCm39) T88I probably damaging Het
Chst1 A T 2: 92,444,475 (GRCm39) I316F probably damaging Het
Col7a1 A T 9: 108,793,686 (GRCm39) D1382V unknown Het
Cr2 T A 1: 194,845,542 (GRCm39) M514L possibly damaging Het
Cubn G A 2: 13,470,719 (GRCm39) H558Y probably benign Het
Cul9 A T 17: 46,839,572 (GRCm39) M802K probably damaging Het
Dennd2d A T 3: 106,398,542 (GRCm39) I169L probably damaging Het
Dnah11 T A 12: 118,010,991 (GRCm39) K162* probably null Het
Dnah3 T A 7: 119,566,943 (GRCm39) T2428S possibly damaging Het
Dock11 T A X: 35,301,296 (GRCm39) H1284Q probably damaging Het
Flrt2 T A 12: 95,745,966 (GRCm39) D101E probably damaging Het
Gabrr2 G A 4: 33,085,626 (GRCm39) V349M probably damaging Het
Gli2 C A 1: 118,764,621 (GRCm39) V1177L probably benign Het
Gm16506 A G 14: 43,961,630 (GRCm39) Y206H probably benign Het
Gm5612 C T 9: 18,338,869 (GRCm39) probably benign Het
Gvin3 C T 7: 106,202,258 (GRCm39) noncoding transcript Het
Heg1 C T 16: 33,545,936 (GRCm39) T460I possibly damaging Het
Lgals9 T G 11: 78,863,977 (GRCm39) D56A probably damaging Het
Lpgat1 A T 1: 191,508,544 (GRCm39) probably null Het
Megf6 T A 4: 154,337,020 (GRCm39) probably null Het
Megf8 G A 7: 25,059,296 (GRCm39) M2265I probably benign Het
Memo1 G A 17: 74,548,976 (GRCm39) R121* probably null Het
Morc1 T C 16: 48,432,677 (GRCm39) V715A probably benign Het
Mycbp2 A T 14: 103,466,928 (GRCm39) probably null Het
Ncapg2 T A 12: 116,388,270 (GRCm39) V318D possibly damaging Het
Ndst1 T C 18: 60,833,517 (GRCm39) Y498C probably damaging Het
Nod1 C T 6: 54,921,341 (GRCm39) A326T probably damaging Het
Or2ag15 A G 7: 106,340,706 (GRCm39) V145A probably benign Het
Or4c11 T A 2: 88,695,864 (GRCm39) M305K probably benign Het
Peg3 T C 7: 6,710,624 (GRCm39) S1533G probably benign Het
Phka1 C T X: 101,629,712 (GRCm39) R477H probably damaging Het
Plagl2 C T 2: 153,074,574 (GRCm39) R109Q probably damaging Het
Prr36 T A 8: 4,266,230 (GRCm39) I107F probably benign Het
Ptpdc1 T A 13: 48,740,080 (GRCm39) R450S probably damaging Het
Ptprb A T 10: 116,138,179 (GRCm39) D361V possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Scrn2 T G 11: 96,921,396 (GRCm39) V52G probably benign Het
Sdk1 C T 5: 142,197,875 (GRCm39) T2176I probably benign Het
Serpina1d T A 12: 103,729,993 (GRCm39) E396D probably benign Het
Slc38a5 A C X: 8,146,070 (GRCm39) Q465P probably benign Het
Slc38a5 G T X: 8,146,071 (GRCm39) Q465H probably benign Het
Smarca1 T C X: 46,981,255 (GRCm39) T48A possibly damaging Het
Trak2 A T 1: 58,962,766 (GRCm39) I132N probably damaging Het
Trank1 A G 9: 111,194,117 (GRCm39) T714A probably benign Het
Trank1 T C 9: 111,194,327 (GRCm39) S784P probably benign Het
Trp53i13 G A 11: 77,399,083 (GRCm39) probably benign Het
Trrap A C 5: 144,767,831 (GRCm39) D2596A probably benign Het
Ttyh1 A T 7: 4,127,656 (GRCm39) T19S probably damaging Het
Tyk2 C T 9: 21,020,660 (GRCm39) V947M probably damaging Het
Ugt2b34 G A 5: 87,040,689 (GRCm39) A411V possibly damaging Het
Virma T A 4: 11,518,929 (GRCm39) Y725* probably null Het
Vmn1r192 A G 13: 22,372,079 (GRCm39) L47P probably damaging Het
Vmn2r74 T C 7: 85,610,500 (GRCm39) D64G possibly damaging Het
Other mutations in Pgc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Pgc APN 17 48,041,591 (GRCm39) missense probably benign 0.09
IGL01647:Pgc APN 17 48,043,329 (GRCm39) missense probably damaging 1.00
IGL02141:Pgc APN 17 48,037,856 (GRCm39) missense probably damaging 1.00
IGL02719:Pgc APN 17 48,039,792 (GRCm39) missense probably damaging 0.98
PIT4469001:Pgc UTSW 17 48,039,680 (GRCm39) nonsense probably null
R0736:Pgc UTSW 17 48,039,705 (GRCm39) missense probably damaging 1.00
R1118:Pgc UTSW 17 48,039,828 (GRCm39) critical splice donor site probably null
R1669:Pgc UTSW 17 48,044,715 (GRCm39) missense probably damaging 1.00
R2162:Pgc UTSW 17 48,040,236 (GRCm39) missense probably null 0.96
R3831:Pgc UTSW 17 48,040,236 (GRCm39) missense probably null 0.96
R3833:Pgc UTSW 17 48,040,236 (GRCm39) missense probably null 0.96
R4454:Pgc UTSW 17 48,043,335 (GRCm39) missense probably benign 0.00
R4908:Pgc UTSW 17 48,039,819 (GRCm39) missense probably damaging 0.96
R5544:Pgc UTSW 17 48,043,429 (GRCm39) missense probably benign 0.00
R6829:Pgc UTSW 17 48,043,706 (GRCm39) splice site probably null
R7042:Pgc UTSW 17 48,044,745 (GRCm39) missense probably benign 0.00
R7508:Pgc UTSW 17 48,045,111 (GRCm39) missense probably benign 0.00
R8022:Pgc UTSW 17 48,039,701 (GRCm39) missense probably benign 0.00
R9028:Pgc UTSW 17 48,043,983 (GRCm39) missense possibly damaging 0.51
R9074:Pgc UTSW 17 48,043,351 (GRCm39) missense probably damaging 0.98
Z1176:Pgc UTSW 17 48,039,793 (GRCm39) nonsense probably null
Posted On 2013-11-05