Incidental Mutation 'R3822:Xpnpep1'
| ID |
275246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpnpep1
|
| Ensembl Gene |
ENSMUSG00000025027 |
| Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
| Synonyms |
D230045I08Rik |
| MMRRC Submission |
040884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 52992250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
| AlphaFold |
Q6P1B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069988
|
| SMART Domains |
Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
| 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: ENSMUST00000182877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183108
|
| SMART Domains |
Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
| 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 |
noncoding transcript
Transcript: ENSMUST00000183188
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (34/34) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
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 |
|
|
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 |
|
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'- GACTCTCTAACACGGATGCAC -3'
(R):5'- CCAGTAATGGGAAGTGCTACAG -3'
Sequencing Primer
(F):5'- TCTAACACGGATGCACAGACTTATAG -3'
(R):5'- TGCTACAGAAGGCTTCCAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation