Incidental Mutation 'R2162:Pgc'
ID 235233
Institutional Source Beutler Lab
Gene Symbol Pgc
Ensembl Gene ENSMUSG00000023987
Gene Name progastricsin (pepsinogen C)
Synonyms Upg-1, 2210410L06Rik, Upg1
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48037767-48045403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48040236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000024782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024782] [ENSMUST00000144955]
AlphaFold Q9D7R7
Predicted Effect probably null
Transcript: ENSMUST00000024782
AA Change: F93L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: F93L

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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Clca4b T C 3: 144,634,348 (GRCm39) I82V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Il36rn G T 2: 24,169,692 (GRCm39) L17F probably damaging Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CACAGACTGAGCATCCGTTG -3'
(R):5'- ATGTGATTTGGACATGTCATGTGAC -3'

Sequencing Primer
(F):5'- TTCGAGGGAAGACTTGGGCC -3'
(R):5'- TGGACATGTCATGTGACTACAGACC -3'
Posted On 2014-10-01