Incidental Mutation 'IGL01358:Pgc'
ID75621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgc
Ensembl Gene ENSMUSG00000023987
Gene Nameprogastricsin (pepsinogen C)
SynonymsUpg1, 2210410L06Rik, Upg-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01358
Quality Score
Status
Chromosome17
Chromosomal Location47726842-47734482 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47730666 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 175 (V175A)
Ref Sequence ENSEMBL: ENSMUSP00000024782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000144955]
Predicted Effect probably benign
Transcript: ENSMUST00000024782
AA Change: V175A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: V175A

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: ENSMUST00000144955
AA Change: V96A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987
AA Change: V96A

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Pgc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 intron probably null
R7042:Pgc UTSW 17 47733820 missense probably benign 0.00
R7508:Pgc UTSW 17 47734186 missense not run
Posted On2013-10-07