Incidental Mutation 'R5876:Xpnpep1'
| ID |
455566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep1
|
| Ensembl Gene |
ENSMUSG00000025027 |
| Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
| Synonyms |
D230045I08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5876 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
52943417-53040214 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52997008 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 530
(T530S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182877
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183108
AA Change: T530S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: T530S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
|
Pfam:Peptidase_M24
|
371 |
587 |
5.5e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183274
AA Change: T530S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: T530S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
|
Pfam:Peptidase_M24
|
371 |
587 |
1.9e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,663,582 (GRCm38) |
D64G |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 126,039,279 (GRCm38) |
M925K |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 84,347,512 (GRCm38) |
T69A |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,212,809 (GRCm38) |
N229K |
possibly damaging |
Het |
| Atp13a3 |
T |
A |
16: 30,362,734 (GRCm38) |
N23Y |
probably benign |
Het |
| Cbr4 |
G |
A |
8: 61,490,593 (GRCm38) |
G91R |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,515,418 (GRCm38) |
C624S |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,310,815 (GRCm38) |
I201N |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,142,577 (GRCm38) |
Y645C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,413,943 (GRCm38) |
V518I |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,912,060 (GRCm38) |
T761A |
possibly damaging |
Het |
| Cpne4 |
C |
A |
9: 104,925,770 (GRCm38) |
S204R |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,863,650 (GRCm38) |
W1279R |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,911,755 (GRCm38) |
P1731S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,870,984 (GRCm38) |
V892D |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,321,248 (GRCm38) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,491,850 (GRCm38) |
D657V |
possibly damaging |
Het |
| Fam83e |
T |
A |
7: 45,722,363 (GRCm38) |
|
probably null |
Het |
| Fbxo4 |
A |
T |
15: 3,977,819 (GRCm38) |
I121N |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,968,820 (GRCm38) |
S202P |
probably damaging |
Het |
| Gm10471 |
T |
C |
5: 26,084,718 (GRCm38) |
E237G |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,663,162 (GRCm38) |
I788N |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,688,023 (GRCm38) |
N53Y |
probably damaging |
Het |
| Hipk2 |
A |
C |
6: 38,730,867 (GRCm38) |
|
probably null |
Het |
| Hps5 |
T |
C |
7: 46,789,196 (GRCm38) |
T38A |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,341,843 (GRCm38) |
D315G |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,138,876 (GRCm38) |
M985I |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm38) |
Y190C |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,476,610 (GRCm38) |
S295P |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,587,738 (GRCm38) |
D413E |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,274,645 (GRCm38) |
F319L |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,510,910 (GRCm38) |
Y411N |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,285,474 (GRCm38) |
E1863* |
probably null |
Het |
| Mrps9 |
A |
G |
1: 42,895,378 (GRCm38) |
E173G |
probably damaging |
Het |
| Olfr8 |
A |
T |
10: 78,955,357 (GRCm38) |
I51F |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,821,047 (GRCm38) |
T692A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,578,588 (GRCm38) |
H3641L |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,233,182 (GRCm38) |
T421A |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,528,456 (GRCm38) |
|
probably null |
Het |
| Ppargc1b |
C |
G |
18: 61,309,093 (GRCm38) |
D591H |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,748,816 (GRCm38) |
|
probably benign |
Het |
| Proz |
A |
G |
8: 13,073,448 (GRCm38) |
R240G |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,476,960 (GRCm38) |
D43E |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,760,326 (GRCm38) |
K135N |
probably damaging |
Het |
| Ska1 |
G |
A |
18: 74,197,528 (GRCm38) |
T201M |
probably damaging |
Het |
| Slc35f5 |
A |
C |
1: 125,587,363 (GRCm38) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,161,723 (GRCm38) |
L510P |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,828 (GRCm38) |
K1231E |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,922,613 (GRCm38) |
S1628P |
possibly damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,240,584 (GRCm38) |
D260V |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,631,622 (GRCm38) |
R73L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,917,061 (GRCm38) |
I3684V |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,461,439 (GRCm38) |
|
probably null |
Het |
| Vwa3b |
T |
A |
1: 37,076,439 (GRCm38) |
I328N |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,530,023 (GRCm38) |
V222M |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,993,277 (GRCm38) |
S111F |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 127,344,546 (GRCm38) |
P137S |
probably benign |
Het |
|
| Other mutations in Xpnpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Xpnpep1
|
APN |
19 |
53,010,148 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01665:Xpnpep1
|
APN |
19 |
52,997,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01833:Xpnpep1
|
APN |
19 |
53,000,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02011:Xpnpep1
|
APN |
19 |
53,002,465 (GRCm38) |
critical splice donor site |
probably benign |
0.00 |
|
IGL03229:Xpnpep1
|
APN |
19 |
53,025,380 (GRCm38) |
missense |
probably benign |
|
|
IGL03334:Xpnpep1
|
APN |
19 |
53,010,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Xpnpep1
|
UTSW |
19 |
53,010,152 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0613:Xpnpep1
|
UTSW |
19 |
53,006,353 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0648:Xpnpep1
|
UTSW |
19 |
52,997,863 (GRCm38) |
splice site |
probably benign |
|
|
R1543:Xpnpep1
|
UTSW |
19 |
52,991,676 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1553:Xpnpep1
|
UTSW |
19 |
53,006,338 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1801:Xpnpep1
|
UTSW |
19 |
53,010,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1853:Xpnpep1
|
UTSW |
19 |
53,006,210 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2234:Xpnpep1
|
UTSW |
19 |
53,013,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3797:Xpnpep1
|
UTSW |
19 |
53,006,342 (GRCm38) |
missense |
probably benign |
0.28 |
|
R3820:Xpnpep1
|
UTSW |
19 |
53,003,819 (GRCm38) |
splice site |
probably benign |
|
|
R3822:Xpnpep1
|
UTSW |
19 |
53,003,819 (GRCm38) |
splice site |
probably benign |
|
|
R3925:Xpnpep1
|
UTSW |
19 |
52,991,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Xpnpep1
|
UTSW |
19 |
53,014,622 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5033:Xpnpep1
|
UTSW |
19 |
53,006,175 (GRCm38) |
missense |
probably benign |
|
|
R5184:Xpnpep1
|
UTSW |
19 |
53,013,414 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5468:Xpnpep1
|
UTSW |
19 |
52,995,519 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5573:Xpnpep1
|
UTSW |
19 |
53,004,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5929:Xpnpep1
|
UTSW |
19 |
53,013,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6454:Xpnpep1
|
UTSW |
19 |
52,997,879 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6519:Xpnpep1
|
UTSW |
19 |
53,011,844 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7095:Xpnpep1
|
UTSW |
19 |
53,011,765 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7112:Xpnpep1
|
UTSW |
19 |
53,010,107 (GRCm38) |
missense |
probably benign |
|
|
R7412:Xpnpep1
|
UTSW |
19 |
53,006,291 (GRCm38) |
missense |
probably benign |
|
|
R8329:Xpnpep1
|
UTSW |
19 |
53,002,472 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8431:Xpnpep1
|
UTSW |
19 |
52,995,506 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9194:Xpnpep1
|
UTSW |
19 |
53,011,858 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9342:Xpnpep1
|
UTSW |
19 |
53,004,817 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9388:Xpnpep1
|
UTSW |
19 |
53,004,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9546:Xpnpep1
|
UTSW |
19 |
53,002,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9746:Xpnpep1
|
UTSW |
19 |
53,013,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF017:Xpnpep1
|
UTSW |
19 |
53,032,060 (GRCm38) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCCAAATCACTCTCATAG -3'
(R):5'- ACTGAGCTCTGACTGGGTTC -3'
Sequencing Primer
(F):5'- CACTCTCATAGTTGAAAAAGGTTGTC -3'
(R):5'- GGGCTTAACTCCAAACTCTTGAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation