Incidental Mutation 'IGL01647:Pgc'
ID 102718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgc
Ensembl Gene ENSMUSG00000023987
Gene Name progastricsin (pepsinogen C)
Synonyms Upg1, 2210410L06Rik, Upg-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01647
Quality Score
Status
Chromosome 17
Chromosomal Location 47726842-47734482 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 47732404 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 226 (G226W)
Ref Sequence ENSEMBL: ENSMUSP00000024782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000086932] [ENSMUST00000144955]
AlphaFold Q9D7R7
Predicted Effect probably damaging
Transcript: ENSMUST00000024782
AA Change: G226W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: G226W

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: 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,085 D191V probably damaging Het
Adcy6 T C 15: 98,600,275 D382G probably damaging Het
Arhgef33 A T 17: 80,365,266 probably benign Het
Armc10 A G 5: 21,646,093 probably benign Het
Bcas1 T A 2: 170,349,252 Q586L probably damaging Het
Ccdc88a A C 11: 29,504,321 probably benign Het
Cep250 T A 2: 155,983,376 C1057S probably benign Het
Ctsm A T 13: 61,540,273 M14K probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Fam71b G T 11: 46,405,397 E199* probably null Het
Frem1 A G 4: 82,950,356 Y1463H possibly damaging Het
Gck A T 11: 5,904,472 M251K probably damaging Het
Gzf1 C T 2: 148,683,650 P14S probably damaging Het
Iws1 A T 18: 32,097,222 K748* probably null Het
Kif15 T A 9: 122,963,471 probably benign Het
Ly6g6f A G 17: 35,080,841 probably benign Het
Mrps30 C T 13: 118,380,610 G358R probably damaging Het
Nfrkb T A 9: 31,396,505 probably benign Het
Olfr1033 C T 2: 86,042,097 P261S probably damaging Het
Pakap A T 4: 57,688,477 I107F possibly damaging Het
Pcnt T A 10: 76,370,001 K2506* probably null Het
Pip5k1a C T 3: 95,074,072 V82M probably damaging Het
Plk3 A G 4: 117,130,357 V466A probably damaging Het
Prss44 C A 9: 110,814,677 Q130K probably damaging Het
Rbck1 T C 2: 152,323,232 Y66C probably damaging Het
Rbm6 T C 9: 107,852,882 E189G probably benign Het
Rtn4r G T 16: 18,151,326 R206L probably damaging Het
Ryr2 C T 13: 11,585,480 G4613E probably damaging Het
Sema5a T G 15: 32,417,441 L19R possibly damaging Het
Slc30a5 T C 13: 100,821,145 T139A possibly damaging Het
Slco2a1 T G 9: 103,070,296 S265A possibly damaging Het
Smad4 A G 18: 73,640,473 probably benign Het
St13 C T 15: 81,371,507 R240Q probably damaging Het
Tcea3 A C 4: 136,274,776 probably benign Het
Uhrf1bp1l T C 10: 89,774,120 probably null Het
Vmn1r177 T C 7: 23,866,175 Y92C probably damaging Het
Wnt8b A T 19: 44,511,265 D151V probably damaging Het
Zfp426 T A 9: 20,478,157 M1L possibly damaging Het
Other mutations in Pgc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Pgc APN 17 47730666 missense probably benign 0.09
IGL01410:Pgc APN 17 47734240 missense probably damaging 0.98
IGL02141:Pgc APN 17 47726931 missense probably damaging 1.00
IGL02719:Pgc APN 17 47728867 missense probably damaging 0.98
PIT4469001:Pgc UTSW 17 47728755 nonsense probably null
R0736:Pgc UTSW 17 47728780 missense probably damaging 1.00
R1118:Pgc UTSW 17 47728903 critical splice donor site probably null
R1669:Pgc UTSW 17 47733790 missense probably damaging 1.00
R2162:Pgc UTSW 17 47729311 missense probably null 0.96
R3831:Pgc UTSW 17 47729311 missense probably null 0.96
R3833:Pgc UTSW 17 47729311 missense probably null 0.96
R4454:Pgc UTSW 17 47732410 missense probably benign 0.00
R4908:Pgc UTSW 17 47728894 missense probably damaging 0.96
R5544:Pgc UTSW 17 47732504 missense probably benign 0.00
R6829:Pgc UTSW 17 47732781 splice site probably null
R7042:Pgc UTSW 17 47733820 missense probably benign 0.00
R7508:Pgc UTSW 17 47734186 missense probably benign 0.00
R8022:Pgc UTSW 17 47728776 missense probably benign 0.00
R9028:Pgc UTSW 17 47733058 missense possibly damaging 0.51
R9074:Pgc UTSW 17 47732426 missense probably damaging 0.98
Z1176:Pgc UTSW 17 47728868 nonsense probably null
Posted On 2014-01-21