Incidental Mutation 'R9388:Xpnpep1'
| ID |
710461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep1
|
| Ensembl Gene |
ENSMUSG00000025027 |
| Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
| Synonyms |
D230045I08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52993233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 365
(K365E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000183108
AA Change: K365E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: K365E
| 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: K365E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: K365E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,338,714 (GRCm39) |
T433S |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,882,261 (GRCm39) |
D1141G |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,483,273 (GRCm39) |
S1728P |
unknown |
Het |
| Adam29 |
A |
C |
8: 56,325,285 (GRCm39) |
C390G |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,158 (GRCm39) |
R273* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,505,877 (GRCm39) |
N929S |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,466,109 (GRCm39) |
|
probably null |
Het |
| Btla |
T |
C |
16: 45,059,454 (GRCm39) |
S53P |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,047,213 (GRCm39) |
F759S |
possibly damaging |
Het |
| Cbll1 |
T |
C |
12: 31,541,567 (GRCm39) |
T104A |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,865,756 (GRCm39) |
M2688V |
possibly damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,367 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,088 (GRCm39) |
I381V |
probably benign |
Het |
| Dennd2d |
T |
A |
3: 106,395,915 (GRCm39) |
N135K |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,779,886 (GRCm39) |
I3196T |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,212,460 (GRCm39) |
R1227L |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,919,179 (GRCm39) |
E423G |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,892,302 (GRCm39) |
Q826R |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,143,522 (GRCm39) |
M684K |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,707,956 (GRCm39) |
L613P |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,353,182 (GRCm39) |
I188L |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Kif1a |
C |
A |
1: 93,000,029 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
T |
16: 22,898,388 (GRCm39) |
Y596F |
possibly damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,961,862 (GRCm39) |
H757Q |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,600,893 (GRCm39) |
I600N |
possibly damaging |
Het |
| Mmp10 |
G |
A |
9: 7,504,170 (GRCm39) |
W203* |
probably null |
Het |
| Mnt |
C |
T |
11: 74,727,450 (GRCm39) |
A112V |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,472,983 (GRCm39) |
N1415Y |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,825,557 (GRCm39) |
*417R |
probably null |
Het |
| Nlrp4c |
C |
T |
7: 6,069,874 (GRCm39) |
Q592* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,943,489 (GRCm39) |
E4220G |
probably damaging |
Het |
| Or10al7 |
C |
T |
17: 38,366,148 (GRCm39) |
C103Y |
probably damaging |
Het |
| Or13a23-ps1 |
G |
T |
7: 140,118,928 (GRCm39) |
C166F |
unknown |
Het |
| Or2w1b |
T |
C |
13: 21,300,774 (GRCm39) |
L304P |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,853 (GRCm39) |
I460F |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,437 (GRCm39) |
Q129R |
unknown |
Het |
| Primpol |
G |
A |
8: 47,034,605 (GRCm39) |
T441I |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,011,380 (GRCm39) |
V583A |
possibly damaging |
Het |
| Rfx6 |
T |
C |
10: 51,554,117 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,693,355 (GRCm39) |
I574V |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,748,552 (GRCm39) |
I258V |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,393 (GRCm39) |
Y776H |
probably benign |
Het |
| Skint6 |
C |
T |
4: 113,049,838 (GRCm39) |
D276N |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,727,067 (GRCm39) |
D184G |
probably damaging |
Het |
| St6galnac4 |
A |
T |
2: 32,479,625 (GRCm39) |
S61C |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,312 (GRCm39) |
V926M |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,193,037 (GRCm39) |
K642N |
possibly damaging |
Het |
| Tmprss3 |
A |
G |
17: 31,410,041 (GRCm39) |
F191S |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,430,210 (GRCm39) |
D1176G |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,145 (GRCm39) |
N262K |
probably benign |
Het |
|
| Other mutations in Xpnpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Xpnpep1
|
APN |
19 |
52,998,579 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01665:Xpnpep1
|
APN |
19 |
52,985,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Xpnpep1
|
APN |
19 |
52,988,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02011:Xpnpep1
|
APN |
19 |
52,990,896 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL03229:Xpnpep1
|
APN |
19 |
53,013,811 (GRCm39) |
missense |
probably benign |
|
|
IGL03334:Xpnpep1
|
APN |
19 |
52,998,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Xpnpep1
|
UTSW |
19 |
52,998,583 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0613:Xpnpep1
|
UTSW |
19 |
52,994,784 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0648:Xpnpep1
|
UTSW |
19 |
52,986,294 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Xpnpep1
|
UTSW |
19 |
52,980,107 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1553:Xpnpep1
|
UTSW |
19 |
52,994,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:Xpnpep1
|
UTSW |
19 |
52,998,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Xpnpep1
|
UTSW |
19 |
52,994,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2234:Xpnpep1
|
UTSW |
19 |
53,001,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Xpnpep1
|
UTSW |
19 |
52,994,773 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3820:Xpnpep1
|
UTSW |
19 |
52,992,250 (GRCm39) |
splice site |
probably benign |
|
|
R3822:Xpnpep1
|
UTSW |
19 |
52,992,250 (GRCm39) |
splice site |
probably benign |
|
|
R3925:Xpnpep1
|
UTSW |
19 |
52,980,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Xpnpep1
|
UTSW |
19 |
53,003,053 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5033:Xpnpep1
|
UTSW |
19 |
52,994,606 (GRCm39) |
missense |
probably benign |
|
|
R5184:Xpnpep1
|
UTSW |
19 |
53,001,845 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5468:Xpnpep1
|
UTSW |
19 |
52,983,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5573:Xpnpep1
|
UTSW |
19 |
52,993,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Xpnpep1
|
UTSW |
19 |
52,985,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Xpnpep1
|
UTSW |
19 |
53,001,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Xpnpep1
|
UTSW |
19 |
52,986,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6519:Xpnpep1
|
UTSW |
19 |
53,000,275 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7095:Xpnpep1
|
UTSW |
19 |
53,000,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7112:Xpnpep1
|
UTSW |
19 |
52,998,538 (GRCm39) |
missense |
probably benign |
|
|
R7412:Xpnpep1
|
UTSW |
19 |
52,994,722 (GRCm39) |
missense |
probably benign |
|
|
R8329:Xpnpep1
|
UTSW |
19 |
52,990,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8431:Xpnpep1
|
UTSW |
19 |
52,983,937 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9194:Xpnpep1
|
UTSW |
19 |
53,000,289 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9342:Xpnpep1
|
UTSW |
19 |
52,993,248 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9546:Xpnpep1
|
UTSW |
19 |
52,990,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Xpnpep1
|
UTSW |
19 |
53,001,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Xpnpep1
|
UTSW |
19 |
53,020,491 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCTGTACACTGCATGGG -3'
(R):5'- TGAACACGTCCGAGCATC -3'
Sequencing Primer
(F):5'- TAGCATCAGATCTCCTGGGACTAG -3'
(R):5'- ATCAGCTGCCGTGACAGGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation