Incidental Mutation 'R1502:Lnpep'
ID |
169404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lnpep
|
Ensembl Gene |
ENSMUSG00000023845 |
Gene Name |
leucyl/cystinyl aminopeptidase |
Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
MMRRC Submission |
039552-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1502 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17791906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 412
(Y412H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
AlphaFold |
Q8C129 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041047
AA Change: Y412H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036998 Gene: ENSMUSG00000023845 AA Change: Y412H
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
G |
11: 109,865,471 (GRCm39) |
T329P |
probably damaging |
Het |
Adamts4 |
C |
A |
1: 171,086,559 (GRCm39) |
P784T |
probably damaging |
Het |
Adamts6 |
T |
C |
13: 104,630,145 (GRCm39) |
L1096P |
probably damaging |
Het |
Ap1b1 |
A |
G |
11: 4,990,290 (GRCm39) |
S849G |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,761,747 (GRCm39) |
S1660G |
probably benign |
Het |
Atp10b |
A |
C |
11: 43,121,174 (GRCm39) |
T946P |
probably damaging |
Het |
Brpf1 |
A |
G |
6: 113,299,381 (GRCm39) |
D1103G |
probably damaging |
Het |
Bub1 |
A |
G |
2: 127,669,339 (GRCm39) |
Y102H |
probably damaging |
Het |
Ccdc182 |
A |
G |
11: 88,185,193 (GRCm39) |
E91G |
probably benign |
Het |
Cd200r4 |
C |
T |
16: 44,653,803 (GRCm39) |
T154M |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,881,755 (GRCm39) |
T407A |
probably benign |
Het |
Col6a2 |
T |
C |
10: 76,450,512 (GRCm39) |
I140V |
probably benign |
Het |
Csn3 |
C |
A |
5: 88,077,983 (GRCm39) |
T163K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,874,375 (GRCm39) |
L438* |
probably null |
Het |
Dbr1 |
T |
C |
9: 99,464,440 (GRCm39) |
L289P |
probably damaging |
Het |
Ddx46 |
A |
G |
13: 55,811,122 (GRCm39) |
R573G |
possibly damaging |
Het |
Defb10 |
T |
C |
8: 22,348,972 (GRCm39) |
I10T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,233,069 (GRCm39) |
E136G |
possibly damaging |
Het |
Dnajb13 |
T |
C |
7: 100,156,668 (GRCm39) |
Q136R |
probably benign |
Het |
Dse |
A |
T |
10: 34,029,214 (GRCm39) |
S625R |
probably damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,209 (GRCm39) |
D94G |
probably damaging |
Het |
Dynlt2a2 |
A |
G |
17: 15,187,876 (GRCm39) |
F133L |
probably benign |
Het |
E130311K13Rik |
A |
C |
3: 63,822,968 (GRCm39) |
Y225* |
probably null |
Het |
Etnppl |
A |
G |
3: 130,422,438 (GRCm39) |
I222V |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,550,440 (GRCm39) |
L818P |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,205,626 (GRCm39) |
C1083* |
probably null |
Het |
Flnc |
G |
A |
6: 29,438,693 (GRCm39) |
V196I |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,435,622 (GRCm39) |
D415G |
probably benign |
Het |
Gm4861 |
A |
C |
3: 137,256,381 (GRCm39) |
V75G |
probably damaging |
Het |
Gpld1 |
A |
T |
13: 25,155,399 (GRCm39) |
T345S |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,432,169 (GRCm39) |
S943G |
probably damaging |
Het |
Grik4 |
C |
T |
9: 42,502,743 (GRCm39) |
R460Q |
probably benign |
Het |
Ifi207 |
A |
C |
1: 173,556,872 (GRCm39) |
L629R |
possibly damaging |
Het |
Ift52 |
G |
A |
2: 162,871,782 (GRCm39) |
|
probably null |
Het |
Insl3 |
A |
G |
8: 72,142,876 (GRCm39) |
D79G |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
Lag3 |
T |
C |
6: 124,886,206 (GRCm39) |
Y249C |
probably damaging |
Het |
Lipe |
T |
C |
7: 25,097,572 (GRCm39) |
N124D |
possibly damaging |
Het |
Lrtm2 |
A |
G |
6: 119,294,235 (GRCm39) |
Y299H |
probably benign |
Het |
Lypd4 |
T |
C |
7: 24,566,253 (GRCm39) |
T24A |
probably benign |
Het |
Magi1 |
T |
A |
6: 93,671,151 (GRCm39) |
I805F |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,418,975 (GRCm39) |
L45P |
probably benign |
Het |
Nbea |
G |
A |
3: 55,912,310 (GRCm39) |
P1159L |
probably benign |
Het |
Ndst4 |
A |
T |
3: 125,231,407 (GRCm39) |
|
probably benign |
Het |
Notch1 |
A |
T |
2: 26,374,335 (GRCm39) |
N229K |
possibly damaging |
Het |
Nova1 |
A |
G |
12: 46,767,615 (GRCm39) |
I102T |
unknown |
Het |
Npepps |
T |
C |
11: 97,109,401 (GRCm39) |
E725G |
possibly damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,234 (GRCm39) |
M122L |
possibly damaging |
Het |
Or13a1 |
T |
C |
6: 116,471,242 (GRCm39) |
I224T |
probably damaging |
Het |
Or5l14 |
T |
C |
2: 87,792,379 (GRCm39) |
N286D |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,910,741 (GRCm39) |
I154T |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,784,858 (GRCm39) |
W51R |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,942,007 (GRCm39) |
S149P |
probably damaging |
Het |
Pgap6 |
A |
G |
17: 26,339,290 (GRCm39) |
T535A |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,785,968 (GRCm39) |
L1052Q |
possibly damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,370 (GRCm39) |
L104Q |
probably benign |
Het |
Pramel32 |
T |
A |
4: 88,546,269 (GRCm39) |
I358F |
probably benign |
Het |
Psme2b |
A |
T |
11: 48,836,576 (GRCm39) |
W124R |
probably damaging |
Het |
Ptk2b |
G |
A |
14: 66,400,529 (GRCm39) |
S762L |
possibly damaging |
Het |
Ptprs |
T |
C |
17: 56,744,992 (GRCm39) |
N248S |
probably benign |
Het |
Rgs22 |
G |
A |
15: 36,080,997 (GRCm39) |
T705I |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,945,709 (GRCm39) |
|
probably null |
Het |
Sel1l2 |
A |
T |
2: 140,231,515 (GRCm39) |
I13N |
probably damaging |
Het |
Slc39a4 |
T |
C |
15: 76,500,793 (GRCm39) |
T57A |
probably benign |
Het |
Smpdl3a |
T |
G |
10: 57,685,187 (GRCm39) |
V319G |
probably damaging |
Het |
Syt9 |
T |
C |
7: 107,035,694 (GRCm39) |
L237P |
probably damaging |
Het |
Tbc1d16 |
G |
T |
11: 119,044,830 (GRCm39) |
A536E |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,739,777 (GRCm39) |
D558G |
probably damaging |
Het |
Tdpoz2 |
A |
T |
3: 93,559,453 (GRCm39) |
M173K |
probably benign |
Het |
Tek |
A |
G |
4: 94,669,339 (GRCm39) |
I113M |
probably damaging |
Het |
Tmem50a |
A |
T |
4: 134,636,980 (GRCm39) |
D50E |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,983,862 (GRCm39) |
V10E |
possibly damaging |
Het |
Vmn1r172 |
C |
T |
7: 23,359,681 (GRCm39) |
R189* |
probably null |
Het |
Vmn2r63 |
A |
T |
7: 42,578,015 (GRCm39) |
D174E |
possibly damaging |
Het |
Zc3h10 |
A |
T |
10: 128,380,151 (GRCm39) |
M402K |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,927,588 (GRCm39) |
H615R |
probably damaging |
Het |
Zfp982 |
A |
C |
4: 147,597,126 (GRCm39) |
H161P |
probably benign |
Het |
Zhx1 |
A |
G |
15: 57,917,992 (GRCm39) |
F85L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTCCCTACGTCTAAATGCTCGG -3'
(R):5'- TGTTTGCTGGTCCTAACAGTGCTC -3'
Sequencing Primer
(F):5'- GTTCTTCAGAACCAGTGTCACG -3'
(R):5'- CCTGCCTTTACACCATGGATT -3'
|
Posted On |
2014-04-13 |