Incidental Mutation 'PIT4469001:Pgc'
| ID |
555842 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4469001 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
48037767-48045403 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 48039680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 25
(K25*)
|
| 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: K25*
|
| SMART Domains |
Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: K25*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000144955
AA Change: K25*
|
| SMART Domains |
Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987
AA Change: K25*
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
| Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
| Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
| Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
| Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
| H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
| Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
| Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
| Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
possibly damaging |
Het |
|
| Other mutations in Pgc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAGATTCAGTGGGCGTGC -3'
(R):5'- AAAGGATGTGTGCAACCCAG -3'
Sequencing Primer
(F):5'- CTTGGGGGCAGACTGGCAG -3'
(R):5'- GCAGAAGACCTTTTGGCAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation