Incidental Mutation 'R6573:Pgpep1'
| ID |
523314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgpep1
|
| Ensembl Gene |
ENSMUSG00000056204 |
| Gene Name |
pyroglutamyl-peptidase I |
| Synonyms |
PGP-I, Pcp, 2810003H13Rik |
| MMRRC Submission |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71099085-71113038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71103265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 203
(I203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070173]
[ENSMUST00000209768]
[ENSMUST00000210193]
[ENSMUST00000210307]
[ENSMUST00000211715]
|
| AlphaFold |
Q9ESW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070173
AA Change: I203T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000070778
Gene: ENSMUSG00000056204
AA Change: I203T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C15
|
6 |
185 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211526
|
| Predicted Effect |
silent
Transcript: ENSMUST00000211715
|
| Meta Mutation Damage Score |
0.0769 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
probably damaging |
Het |
|
| Other mutations in Pgpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02565:Pgpep1
|
APN |
8 |
71,105,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Pgpep1
|
UTSW |
8 |
71,105,174 (GRCm39) |
splice site |
probably null |
|
|
R0413:Pgpep1
|
UTSW |
8 |
71,110,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Pgpep1
|
UTSW |
8 |
71,103,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5547:Pgpep1
|
UTSW |
8 |
71,105,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5773:Pgpep1
|
UTSW |
8 |
71,105,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Pgpep1
|
UTSW |
8 |
71,105,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Pgpep1
|
UTSW |
8 |
71,105,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Pgpep1
|
UTSW |
8 |
71,105,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Pgpep1
|
UTSW |
8 |
71,103,168 (GRCm39) |
missense |
unknown |
|
|
R9301:Pgpep1
|
UTSW |
8 |
71,103,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Pgpep1
|
UTSW |
8 |
71,103,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTGAAAATGCAGACTGC -3'
(R):5'- TCAGGTATCTGTGTGACTTCACG -3'
Sequencing Primer
(F):5'- CATGTGTGCAGACCACTAGC -3'
(R):5'- ACGTATTATACATCGCTCTACCAGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation