Incidental Mutation 'IGL02659:Lnpep'
ID |
302466 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lnpep
|
Ensembl Gene |
ENSMUSG00000023845 |
Gene Name |
leucyl/cystinyl aminopeptidase |
Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02659
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 17791162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 461
(I461F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
AlphaFold |
Q8C129 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: I461F
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000036998 Gene: ENSMUSG00000023845 AA Change: I461F
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
Pfam:Peptidase_M1
|
167 |
552 |
9.2e-143 |
PFAM |
Pfam:ERAP1_C
|
689 |
1007 |
1e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231666
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232515
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a somewhat reduced tissue uptake of glucose either basally or after insulin stimulation. Mice homozygous for a different knock-out allele exhibit impaired coordination at 3 months and impaired spatial working memory in a Y maze at 6 months of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
T |
14: 29,708,298 (GRCm39) |
N192I |
probably damaging |
Het |
Arhgap15 |
A |
T |
2: 43,953,849 (GRCm39) |
I192F |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,463,379 (GRCm39) |
F971L |
probably benign |
Het |
Cacna1e |
G |
T |
1: 154,302,274 (GRCm39) |
F1660L |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,421,469 (GRCm39) |
T1087M |
probably damaging |
Het |
Ces2b |
T |
C |
8: 105,559,202 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,573,115 (GRCm39) |
D219G |
unknown |
Het |
Desi2 |
G |
A |
1: 178,076,843 (GRCm39) |
A116T |
probably damaging |
Het |
Eri2 |
T |
A |
7: 119,386,665 (GRCm39) |
Q202L |
probably damaging |
Het |
Gtf2ird1 |
G |
A |
5: 134,405,895 (GRCm39) |
P715L |
probably damaging |
Het |
Higd1c |
A |
T |
15: 100,281,622 (GRCm39) |
M249L |
probably benign |
Het |
Il5ra |
T |
A |
6: 106,719,644 (GRCm39) |
H63L |
possibly damaging |
Het |
Lamb3 |
T |
A |
1: 193,014,469 (GRCm39) |
C543S |
probably damaging |
Het |
Lum |
A |
G |
10: 97,404,609 (GRCm39) |
H168R |
probably benign |
Het |
Magi1 |
T |
C |
6: 93,762,591 (GRCm39) |
E77G |
possibly damaging |
Het |
Mrpl13 |
T |
C |
15: 55,421,135 (GRCm39) |
|
probably null |
Het |
Mtpap |
T |
A |
18: 4,380,703 (GRCm39) |
L127* |
probably null |
Het |
Myo15a |
T |
C |
11: 60,382,609 (GRCm39) |
|
probably benign |
Het |
Nek1 |
A |
G |
8: 61,542,514 (GRCm39) |
S726G |
probably benign |
Het |
Nlrp5 |
C |
A |
7: 23,118,006 (GRCm39) |
H577N |
probably damaging |
Het |
Nynrin |
G |
A |
14: 56,103,554 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,289 (GRCm39) |
M140V |
probably benign |
Het |
Or2h15 |
C |
T |
17: 38,441,427 (GRCm39) |
G219S |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,764,364 (GRCm39) |
D382E |
probably damaging |
Het |
Plekhg1 |
T |
A |
10: 3,907,069 (GRCm39) |
L516* |
probably null |
Het |
Prune1 |
A |
G |
3: 95,162,711 (GRCm39) |
S321P |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
Thbs1 |
T |
G |
2: 117,945,273 (GRCm39) |
V282G |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,235,332 (GRCm39) |
R880C |
probably damaging |
Het |
Vmn2r77 |
T |
G |
7: 86,449,979 (GRCm39) |
I75S |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,630,063 (GRCm39) |
I2690K |
probably damaging |
Het |
Zfp286 |
T |
C |
11: 62,674,563 (GRCm39) |
N94S |
possibly damaging |
Het |
|
Other mutations in Lnpep |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01983:Lnpep
|
APN |
17 |
17,751,440 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Lnpep
|
APN |
17 |
17,791,219 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02040:Lnpep
|
APN |
17 |
17,765,167 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02392:Lnpep
|
APN |
17 |
17,799,445 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02417:Lnpep
|
APN |
17 |
17,765,165 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02697:Lnpep
|
APN |
17 |
17,773,455 (GRCm39) |
missense |
probably benign |
|
IGL02947:Lnpep
|
APN |
17 |
17,791,234 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03493:Lnpep
|
APN |
17 |
17,799,433 (GRCm39) |
missense |
probably damaging |
1.00 |
I0000:Lnpep
|
UTSW |
17 |
17,799,233 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4504001:Lnpep
|
UTSW |
17 |
17,799,289 (GRCm39) |
missense |
probably benign |
0.00 |
R0528:Lnpep
|
UTSW |
17 |
17,751,394 (GRCm39) |
splice site |
probably benign |
|
R0535:Lnpep
|
UTSW |
17 |
17,791,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0540:Lnpep
|
UTSW |
17 |
17,758,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R0586:Lnpep
|
UTSW |
17 |
17,795,658 (GRCm39) |
splice site |
probably benign |
|
R0607:Lnpep
|
UTSW |
17 |
17,758,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R1502:Lnpep
|
UTSW |
17 |
17,791,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1570:Lnpep
|
UTSW |
17 |
17,799,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Lnpep
|
UTSW |
17 |
17,773,575 (GRCm39) |
missense |
probably benign |
0.00 |
R1826:Lnpep
|
UTSW |
17 |
17,783,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Lnpep
|
UTSW |
17 |
17,799,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R2029:Lnpep
|
UTSW |
17 |
17,788,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4593:Lnpep
|
UTSW |
17 |
17,799,289 (GRCm39) |
missense |
probably benign |
0.00 |
R4638:Lnpep
|
UTSW |
17 |
17,795,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Lnpep
|
UTSW |
17 |
17,791,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4919:Lnpep
|
UTSW |
17 |
17,799,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5030:Lnpep
|
UTSW |
17 |
17,799,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R5111:Lnpep
|
UTSW |
17 |
17,798,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5203:Lnpep
|
UTSW |
17 |
17,757,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Lnpep
|
UTSW |
17 |
17,766,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5419:Lnpep
|
UTSW |
17 |
17,786,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R5535:Lnpep
|
UTSW |
17 |
17,758,956 (GRCm39) |
missense |
probably benign |
0.02 |
R5680:Lnpep
|
UTSW |
17 |
17,799,444 (GRCm39) |
nonsense |
probably null |
|
R6134:Lnpep
|
UTSW |
17 |
17,773,454 (GRCm39) |
missense |
probably benign |
|
R6142:Lnpep
|
UTSW |
17 |
17,786,943 (GRCm39) |
critical splice donor site |
probably null |
|
R6189:Lnpep
|
UTSW |
17 |
17,787,001 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6225:Lnpep
|
UTSW |
17 |
17,799,245 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6350:Lnpep
|
UTSW |
17 |
17,783,071 (GRCm39) |
missense |
probably benign |
0.01 |
R6357:Lnpep
|
UTSW |
17 |
17,773,176 (GRCm39) |
missense |
probably benign |
0.00 |
R6765:Lnpep
|
UTSW |
17 |
17,750,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6794:Lnpep
|
UTSW |
17 |
17,751,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7013:Lnpep
|
UTSW |
17 |
17,788,625 (GRCm39) |
missense |
probably benign |
0.04 |
R7208:Lnpep
|
UTSW |
17 |
17,773,172 (GRCm39) |
nonsense |
probably null |
|
R7268:Lnpep
|
UTSW |
17 |
17,758,803 (GRCm39) |
missense |
probably benign |
|
R7564:Lnpep
|
UTSW |
17 |
17,798,854 (GRCm39) |
missense |
probably benign |
0.22 |
R7746:Lnpep
|
UTSW |
17 |
17,758,824 (GRCm39) |
missense |
probably benign |
|
R7853:Lnpep
|
UTSW |
17 |
17,783,109 (GRCm39) |
missense |
probably benign |
0.00 |
R7881:Lnpep
|
UTSW |
17 |
17,787,001 (GRCm39) |
missense |
probably benign |
0.01 |
R8015:Lnpep
|
UTSW |
17 |
17,766,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Lnpep
|
UTSW |
17 |
17,758,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8835:Lnpep
|
UTSW |
17 |
17,750,118 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8843:Lnpep
|
UTSW |
17 |
17,773,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9136:Lnpep
|
UTSW |
17 |
17,750,090 (GRCm39) |
missense |
probably benign |
0.26 |
R9274:Lnpep
|
UTSW |
17 |
17,758,837 (GRCm39) |
missense |
probably benign |
0.01 |
R9427:Lnpep
|
UTSW |
17 |
17,795,609 (GRCm39) |
missense |
probably benign |
0.08 |
R9789:Lnpep
|
UTSW |
17 |
17,795,596 (GRCm39) |
missense |
probably damaging |
1.00 |
X0004:Lnpep
|
UTSW |
17 |
17,765,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |