Incidental Mutation 'IGL02392:Lnpep'
| ID |
294273 |
| 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 # |
IGL02392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17799445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 70
(Y70C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: Y70C
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: Y70C
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
| Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
| Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
| Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
| Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
| Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
| Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mtdh |
A |
T |
15: 34,099,723 (GRCm39) |
N158Y |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
| Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
| Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
| Qsox1 |
T |
C |
1: 155,688,346 (GRCm39) |
E67G |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
| Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
| Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
| Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
| Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,440,178 (GRCm39) |
Y610H |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
| Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
| Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
| Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
| Zmym1 |
T |
A |
4: 126,942,256 (GRCm39) |
S711C |
probably 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 |
|
IGL02417:Lnpep
|
APN |
17 |
17,765,165 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02659:Lnpep
|
APN |
17 |
17,791,162 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
Incidental Mutation