Incidental Mutation 'IGL02040:Lnpep'
ID |
184710 |
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 # |
IGL02040
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17765167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 761
(H761R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
AlphaFold |
Q8C129 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: H761R
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000036998 Gene: ENSMUSG00000023845 AA Change: H761R
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: ENSMUST00000231515
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
G |
5: 3,630,405 (GRCm39) |
F107C |
probably damaging |
Het |
4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
A830018L16Rik |
T |
A |
1: 12,003,822 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,413,424 (GRCm39) |
V536A |
possibly damaging |
Het |
Ano6 |
T |
G |
15: 95,853,825 (GRCm39) |
I667R |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
Azin2 |
G |
T |
4: 128,844,451 (GRCm39) |
L37M |
possibly damaging |
Het |
Caap1 |
A |
G |
4: 94,438,667 (GRCm39) |
I174T |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,616,585 (GRCm39) |
V46A |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,289 (GRCm39) |
D196G |
probably damaging |
Het |
Col19a1 |
A |
G |
1: 24,351,126 (GRCm39) |
|
probably null |
Het |
Defb22 |
G |
T |
2: 152,331,976 (GRCm39) |
T19K |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,603,558 (GRCm39) |
I2211V |
probably benign |
Het |
Ecel1 |
A |
C |
1: 87,082,645 (GRCm39) |
C23G |
probably benign |
Het |
Elmod2 |
A |
G |
8: 84,048,126 (GRCm39) |
V112A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,531,754 (GRCm39) |
K510E |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,081,694 (GRCm39) |
S1113R |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,971,181 (GRCm39) |
D653E |
possibly damaging |
Het |
Exd1 |
A |
G |
2: 119,370,546 (GRCm39) |
V54A |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,963,004 (GRCm39) |
|
probably benign |
Het |
Fnbp1l |
A |
G |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
Foxf1 |
A |
G |
8: 121,812,084 (GRCm39) |
N316S |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,218,495 (GRCm39) |
V426A |
probably benign |
Het |
Gpc2 |
A |
G |
5: 138,274,844 (GRCm39) |
|
probably null |
Het |
Hnrnpab |
A |
G |
11: 51,492,622 (GRCm39) |
|
probably benign |
Het |
Hsf4 |
T |
G |
8: 106,002,299 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
G |
T |
1: 37,435,166 (GRCm39) |
R179L |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,704,919 (GRCm39) |
M361L |
probably benign |
Het |
Kif15 |
A |
C |
9: 122,846,450 (GRCm39) |
Y117S |
probably damaging |
Het |
Masp2 |
G |
T |
4: 148,688,270 (GRCm39) |
C180F |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,910,613 (GRCm39) |
E261G |
probably damaging |
Het |
Mtmr7 |
T |
C |
8: 41,013,926 (GRCm39) |
I211V |
probably benign |
Het |
Nsd2 |
T |
C |
5: 34,024,915 (GRCm39) |
|
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,907 (GRCm39) |
I157T |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,652,614 (GRCm39) |
N44S |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,910 (GRCm39) |
|
probably benign |
Het |
Or8j3c |
A |
G |
2: 86,253,336 (GRCm39) |
I228T |
probably damaging |
Het |
Oxct1 |
G |
A |
15: 4,056,250 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
G |
7: 3,824,516 (GRCm39) |
|
probably benign |
Het |
Plbd2 |
C |
T |
5: 120,625,507 (GRCm39) |
S430N |
probably damaging |
Het |
Postn |
A |
G |
3: 54,270,110 (GRCm39) |
K63R |
probably benign |
Het |
Pramel19 |
G |
A |
4: 101,798,331 (GRCm39) |
V101I |
possibly damaging |
Het |
Proc |
A |
T |
18: 32,267,913 (GRCm39) |
V75E |
probably benign |
Het |
Ptprt |
T |
C |
2: 162,079,992 (GRCm39) |
Y269C |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,447,902 (GRCm39) |
V476A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,823,623 (GRCm39) |
V41A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,992,018 (GRCm39) |
I1402F |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,358,476 (GRCm39) |
T194I |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,119,452 (GRCm39) |
|
probably benign |
Het |
Skint4 |
T |
C |
4: 112,003,679 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,903,725 (GRCm39) |
S1545T |
probably benign |
Het |
Tpra1 |
A |
T |
6: 88,887,164 (GRCm39) |
H168L |
possibly damaging |
Het |
Trim47 |
T |
C |
11: 115,998,734 (GRCm39) |
E295G |
probably damaging |
Het |
Ttc28 |
T |
A |
5: 111,040,802 (GRCm39) |
C63* |
probably null |
Het |
Usp45 |
G |
A |
4: 21,830,433 (GRCm39) |
R696H |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,167,830 (GRCm39) |
R124Q |
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 |
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 |
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 |
2014-05-07 |