Incidental Mutation 'R5184:Xpnpep1'
| ID |
397782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep1
|
| Ensembl Gene |
ENSMUSG00000025027 |
| Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
| Synonyms |
D230045I08Rik |
| MMRRC Submission |
042763-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5184 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53001845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182097]
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182097
AA Change: T91A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027
AA Change: T91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
9 |
119 |
5.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183108
AA Change: T134A
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: T134A
| 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 benign
Transcript: ENSMUST00000183274
AA Change: T134A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
|
Pfam:Peptidase_M24
|
371 |
587 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184510
|
| Meta Mutation Damage Score |
0.1780 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
| Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
| Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,779,182 (GRCm39) |
T221A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
| Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,283,242 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,824,608 (GRCm39) |
I534N |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,770,182 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
| Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
| Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
| Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
| Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
| Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
| Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
| Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
| Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
|
|
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 |
|
R9388:Xpnpep1
|
UTSW |
19 |
52,993,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGTGTGTACAAAACAGCATAGTG -3'
(R):5'- CAGGCGTTTCCTTGGAGTCTAG -3'
Sequencing Primer
(F):5'- AAGCATTCTACCAGCCCT -3'
(R):5'- AGTCTAGGACTCCTGTGCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation