Incidental Mutation 'R3797:Xpnpep1'
ID |
272824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpnpep1
|
Ensembl Gene |
ENSMUSG00000025027 |
Gene Name |
X-prolyl aminopeptidase (aminopeptidase P) 1, soluble |
Synonyms |
D230045I08Rik |
MMRRC Submission |
040758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3797 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
52919710-53027093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52994773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 285
(V285D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182500]
[ENSMUST00000183108]
[ENSMUST00000183274]
|
AlphaFold |
Q6P1B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069988
AA Change: V242D
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000070946 Gene: ENSMUSG00000025027 AA Change: V242D
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: ENSMUST00000182534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183108
AA Change: V285D
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138250 Gene: ENSMUSG00000025027 AA Change: V285D
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
AA Change: V285D
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138233 Gene: ENSMUSG00000025027 AA Change: V285D
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: ENSMUST00000184510
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
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 |
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 |
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'- TTCAGATGGGGCAGACTGAG -3'
(R):5'- AGGCATGTAAGTGTGGGACC -3'
Sequencing Primer
(F):5'- ACTCACCTTGGGGATGGC -3'
(R):5'- TCCCGTTAGGAGCTGTCC -3'
|
Posted On |
2015-03-25 |