Incidental Mutation 'R0736:Pgc'
| ID |
67308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgc
|
| Ensembl Gene |
ENSMUSG00000023987 |
| Gene Name |
progastricsin (pepsinogen C) |
| Synonyms |
Upg-1, 2210410L06Rik, Upg1 |
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
157 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
48037767-48045403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48039705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 33
(M33K)
|
| 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: M33K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024782
Gene: ENSMUSG00000023987
AA Change: M33K
| 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 |
possibly damaging
Transcript: ENSMUST00000144955
AA Change: M33K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123459
Gene: ENSMUSG00000023987
AA Change: M33K
| 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: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| 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 |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
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 |
|
PIT4469001:Pgc
|
UTSW |
17 |
48,039,680 (GRCm39) |
nonsense |
probably null |
|
|
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'- GGACAATTCTCCAAGTCACCTTCCTG -3'
(R):5'- AGGCAGAAGACCTTTTGGCAGC -3'
Sequencing Primer
(F):5'- agaaagaaaaagatgaaggggaag -3'
(R):5'- ACCTTTTGGCAGCAGGGAC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation