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 Upg-1, 2210410L06Rik, Upg1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02719
Quality Score
Status
Chromosome 17
Chromosomal Location 48037767-48045403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48039792 bp (GRCm39)
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: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S probably damaging Het
Other mutations in Pgc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Pgc APN 17 48,041,591 (GRCm39) missense probably benign 0.09
IGL01410:Pgc APN 17 48,045,165 (GRCm39) missense probably damaging 0.98
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
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 2015-04-16