Incidental Mutation 'R3925:Xpnpep1'
| ID |
308259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep1
|
| Ensembl Gene |
ENSMUSG00000025027 |
| Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
| Synonyms |
D230045I08Rik |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52980128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 632
(H632R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069988
AA Change: H589R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: H589R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
10 |
154 |
5.2e-15 |
PFAM |
|
Pfam:Creatinase_N_2
|
157 |
326 |
1.4e-47 |
PFAM |
|
Pfam:Peptidase_M24
|
328 |
544 |
7.2e-52 |
PFAM |
|
Pfam:Peptidase_M24_C
|
555 |
619 |
7.3e-26 |
PFAM |
|
| 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: H632R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: H632R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Creatinase_N
|
53 |
198 |
1.2e-17 |
PFAM |
|
Pfam:Peptidase_M24
|
371 |
587 |
1.9e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.3452 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
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 |
|
|
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 |
|
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'- AGAGTTTCAGCTCTTCTTAGTGTC -3'
(R):5'- TGGGACATTTTCTTGCAAACAGTC -3'
Sequencing Primer
(F):5'- TTTCAGCTCTTCTTAGTGTCTAAAAG -3'
(R):5'- GATTTCCCCAGGGTAGCAGACATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation