Incidental Mutation 'R1256:Pepd'
| ID |
151451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pepd
|
| Ensembl Gene |
ENSMUSG00000063931 |
| Gene Name |
peptidase D |
| Synonyms |
dal, peptidase D, Pep4, Pep-4 |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34611832-34744131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34620917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 61
(T61P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075068]
|
| AlphaFold |
Q11136 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075068
AA Change: T61P
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931
AA Change: T61P
| Domain | Start | End | E-Value | Type |
|---|
|
AMP_N
|
18 |
155 |
2.71e-39 |
SMART |
|
Pfam:Peptidase_M24
|
193 |
459 |
5.4e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants are smaller than normal siblings and, except on the flanks, an agouti coat appears nonagouti. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Pepd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Pepd
|
APN |
7 |
34,623,865 (GRCm39) |
missense |
probably benign |
|
|
IGL02102:Pepd
|
APN |
7 |
34,645,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1690:Pepd
|
UTSW |
7 |
34,730,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Pepd
|
UTSW |
7 |
34,730,851 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1911:Pepd
|
UTSW |
7 |
34,634,174 (GRCm39) |
splice site |
probably benign |
|
|
R1918:Pepd
|
UTSW |
7 |
34,671,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2144:Pepd
|
UTSW |
7 |
34,620,843 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4814:Pepd
|
UTSW |
7 |
34,645,022 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4924:Pepd
|
UTSW |
7 |
34,720,409 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5490:Pepd
|
UTSW |
7 |
34,642,115 (GRCm39) |
splice site |
probably null |
|
|
R5669:Pepd
|
UTSW |
7 |
34,740,099 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6240:Pepd
|
UTSW |
7 |
34,721,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6300:Pepd
|
UTSW |
7 |
34,668,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Pepd
|
UTSW |
7 |
34,740,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6995:Pepd
|
UTSW |
7 |
34,721,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Pepd
|
UTSW |
7 |
34,721,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7587:Pepd
|
UTSW |
7 |
34,668,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Pepd
|
UTSW |
7 |
34,721,126 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8672:Pepd
|
UTSW |
7 |
34,642,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8815:Pepd
|
UTSW |
7 |
34,671,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Pepd
|
UTSW |
7 |
34,720,398 (GRCm39) |
missense |
probably benign |
|
|
R9489:Pepd
|
UTSW |
7 |
34,743,218 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9605:Pepd
|
UTSW |
7 |
34,743,218 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9646:Pepd
|
UTSW |
7 |
34,620,882 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0021:Pepd
|
UTSW |
7 |
34,653,988 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGCACAAGTTGCCCAGAGTCC -3'
(R):5'- TAAACTGTAGCCAGTGGCCCAGAC -3'
Sequencing Primer
(F):5'- GGCACAGACCCCAGGTAATG -3'
(R):5'- ATCTCTGCCCAACAGGTGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation