Incidental Mutation 'R4638:Lnpep'
ID |
350809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lnpep
|
Ensembl Gene |
ENSMUSG00000023845 |
Gene Name |
leucyl/cystinyl aminopeptidase |
Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
MMRRC Submission |
041900-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 17795569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 314
(T314I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
AlphaFold |
Q8C129 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041047
AA Change: T314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036998 Gene: ENSMUSG00000023845 AA Change: T314I
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
|
Meta Mutation Damage Score |
0.5309 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
91% (40/44) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATTCCTCAGACTGACAAAG -3'
(R):5'- AGCCTGCAAGAAGACTCTGC -3'
Sequencing Primer
(F):5'- CCTCAGACTGACAAAGTACTTTTC -3'
(R):5'- CCTCAACCCCTTTAGTTAATAGTAGG -3'
|
Posted On |
2015-10-08 |