Incidental Mutation 'IGL02719:Pgc'
ID 304924
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: 0.060) question?
Stock # IGL02719
Quality Score
Status
Chromosome 17
Chromosomal Location 47726842-47734482 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47728867 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 62 (Y62C)
Ref Sequence ENSEMBL: ENSMUSP00000024782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000144955]
AlphaFold Q9D7R7
Predicted Effect probably damaging
Transcript: ENSMUST00000024782
AA Change: Y62C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: Y62C

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 possibly damaging
Transcript: ENSMUST00000144955
AA Change: Y62C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987
AA Change: Y62C

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,582,150 D160G probably damaging Het
Aak1 A G 6: 86,959,170 probably benign Het
Anp32e A G 3: 95,937,912 probably benign Het
Aspscr1 T A 11: 120,677,579 L61Q probably damaging Het
Btrc A G 19: 45,503,150 I89M probably damaging Het
Ccdc175 G A 12: 72,175,125 T141M probably damaging Het
Cep70 G A 9: 99,275,722 V225I probably damaging Het
Col4a1 T C 8: 11,231,950 probably benign Het
Cpne1 T C 2: 156,078,217 Y214C probably damaging Het
Crtc3 T C 7: 80,618,658 probably null Het
Cul2 C T 18: 3,434,052 A683V probably damaging Het
Ddx47 A G 6: 135,017,151 N131D probably benign Het
Dnah7b T G 1: 46,099,608 probably benign Het
Dnaic2 T C 11: 114,751,911 L446P probably damaging Het
Ergic2 T C 6: 148,204,819 T58A possibly damaging Het
Erlin2 A G 8: 27,029,675 probably benign Het
Fermt2 T C 14: 45,504,656 T78A probably damaging Het
Flg2 G T 3: 93,220,131 G97* probably null Het
Gm7356 A G 17: 14,001,275 I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 probably benign Het
Heatr5b C T 17: 78,815,540 R670H probably damaging Het
Hspa4l T C 3: 40,772,658 V476A possibly damaging Het
Ick A G 9: 78,140,019 E67G probably damaging Het
Itpkc A T 7: 27,228,050 D146E possibly damaging Het
Kcnk3 T C 5: 30,621,980 F125L probably damaging Het
Kif12 T A 4: 63,167,796 M411L probably benign Het
Krtap24-1 T C 16: 88,612,206 S11G probably benign Het
Lilra6 A T 7: 3,912,992 H289Q possibly damaging Het
Musk A C 4: 58,356,496 N469H probably benign Het
Myom1 A G 17: 71,106,354 probably benign Het
Nagpa A G 16: 5,201,493 V46A possibly damaging Het
Olfr1281 T A 2: 111,329,245 Y275* probably null Het
Olfr146 T C 9: 39,019,016 N175S probably benign Het
Olfr193 T A 16: 59,110,173 T146S probably benign Het
Parp6 T A 9: 59,630,738 V222E probably benign Het
Pde3b T A 7: 114,506,248 S472T probably damaging Het
Peak1 A G 9: 56,227,206 S1314P probably damaging Het
Pitpnm2 A G 5: 124,140,602 C189R probably damaging Het
Pla2g15 G T 8: 106,160,196 Q106H probably benign Het
Pla2g4c T A 7: 13,330,094 S93T probably damaging Het
Rbks G T 5: 31,651,801 probably benign Het
Retsat A G 6: 72,603,659 T207A possibly damaging Het
Slc25a32 A G 15: 39,099,905 Y174H probably benign Het
Slc35f2 T A 9: 53,809,742 probably benign Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sos2 A G 12: 69,617,184 Y476H probably benign Het
Ssh2 A T 11: 77,425,587 N296I probably damaging Het
Sspo G T 6: 48,482,667 R3320L probably benign Het
Synj2 A G 17: 5,996,917 I166V probably benign Het
Tpp2 T C 1: 43,940,231 V96A probably benign Het
Vmn2r3 A T 3: 64,275,610 W223R probably damaging Het
Wdr17 T C 8: 54,693,054 probably null Het
Zfr2 T A 10: 81,244,712 C407S probably 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
IGL01647:Pgc APN 17 47732404 missense probably damaging 1.00
IGL02141:Pgc APN 17 47726931 missense probably damaging 1.00
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 2015-04-16