Incidental Mutation 'R6189:Lnpep'
ID |
502419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lnpep
|
Ensembl Gene |
ENSMUSG00000023845 |
Gene Name |
leucyl/cystinyl aminopeptidase |
Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
MMRRC Submission |
044329-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6189 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17787001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 533
(S533T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
AlphaFold |
Q8C129 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: S533T
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036998 Gene: ENSMUSG00000023845 AA Change: S533T
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (74/76) |
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 |
A530064D06Rik |
A |
G |
17: 48,474,222 (GRCm39) |
|
probably benign |
Het |
Abca8a |
T |
C |
11: 109,921,710 (GRCm39) |
D1448G |
probably damaging |
Het |
Actn2 |
C |
T |
13: 12,291,326 (GRCm39) |
D693N |
probably damaging |
Het |
Adam3 |
A |
C |
8: 25,201,352 (GRCm39) |
I267R |
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,343,877 (GRCm39) |
|
probably null |
Het |
C4bp |
T |
C |
1: 130,564,556 (GRCm39) |
Y376C |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,616,818 (GRCm39) |
W101R |
probably damaging |
Het |
Ccdc97 |
T |
A |
7: 25,415,523 (GRCm39) |
T47S |
probably benign |
Het |
Cenatac |
G |
A |
9: 44,321,618 (GRCm39) |
R328C |
probably benign |
Het |
Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 47,248,232 (GRCm39) |
S1213T |
probably damaging |
Het |
Cxcl10 |
A |
T |
5: 92,495,972 (GRCm39) |
L55Q |
probably benign |
Het |
Cyp1a1 |
T |
C |
9: 57,607,966 (GRCm39) |
V198A |
probably damaging |
Het |
Dclre1b |
A |
G |
3: 103,710,849 (GRCm39) |
V354A |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,026,402 (GRCm39) |
H1837Y |
probably benign |
Het |
Dnajc13 |
G |
C |
9: 104,091,085 (GRCm39) |
D665E |
probably benign |
Het |
Dnmbp |
T |
C |
19: 43,878,748 (GRCm39) |
T108A |
probably benign |
Het |
Dnmbp |
T |
A |
19: 43,889,950 (GRCm39) |
T606S |
probably benign |
Het |
Dok5 |
T |
A |
2: 170,642,771 (GRCm39) |
I23N |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,385,399 (GRCm39) |
F311I |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,083,075 (GRCm39) |
M1059L |
probably benign |
Het |
Fbxo40 |
A |
G |
16: 36,786,526 (GRCm39) |
I681T |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,381 (GRCm39) |
C2098S |
unknown |
Het |
Gpr87 |
T |
A |
3: 59,086,650 (GRCm39) |
D285V |
probably damaging |
Het |
Hrh1 |
T |
A |
6: 114,456,959 (GRCm39) |
V80D |
probably damaging |
Het |
Hunk |
G |
A |
16: 90,284,769 (GRCm39) |
R351K |
probably benign |
Het |
Ifna12 |
A |
G |
4: 88,521,248 (GRCm39) |
W100R |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,584,176 (GRCm39) |
G310S |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,857,084 (GRCm39) |
Y1015* |
probably null |
Het |
Igkv14-130 |
T |
C |
6: 67,768,432 (GRCm39) |
I96T |
probably damaging |
Het |
Il34 |
C |
T |
8: 111,469,350 (GRCm39) |
S155N |
probably benign |
Het |
Itga7 |
T |
C |
10: 128,786,272 (GRCm39) |
S938P |
possibly damaging |
Het |
Itgam |
A |
G |
7: 127,711,676 (GRCm39) |
M764V |
probably benign |
Het |
Lao1 |
T |
A |
4: 118,825,077 (GRCm39) |
M299K |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,305,579 (GRCm39) |
V283A |
possibly damaging |
Het |
Magi3 |
G |
T |
3: 103,958,181 (GRCm39) |
H635N |
probably damaging |
Het |
Mecr |
A |
T |
4: 131,592,565 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
T |
C |
16: 4,728,674 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 112,012,087 (GRCm39) |
N646H |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,957,377 (GRCm39) |
V39I |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,555,880 (GRCm39) |
S1684G |
probably damaging |
Het |
Ntn5 |
A |
T |
7: 45,342,644 (GRCm39) |
D330V |
probably benign |
Het |
Nup42 |
G |
T |
5: 24,380,452 (GRCm39) |
G149V |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,623,774 (GRCm39) |
V157D |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,960,760 (GRCm39) |
I3460V |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,257 (GRCm39) |
M288K |
possibly damaging |
Het |
Pakap |
A |
G |
4: 57,855,928 (GRCm39) |
E419G |
probably benign |
Het |
Pcdh15 |
C |
T |
10: 74,178,483 (GRCm39) |
A580V |
probably null |
Het |
Pcdhb10 |
T |
A |
18: 37,545,456 (GRCm39) |
H177Q |
probably damaging |
Het |
Pitx2 |
T |
C |
3: 129,012,118 (GRCm39) |
Y130H |
probably damaging |
Het |
Pmch |
G |
T |
10: 87,927,248 (GRCm39) |
|
probably null |
Het |
Pofut2 |
T |
A |
10: 77,104,420 (GRCm39) |
I399N |
probably damaging |
Het |
Prr36 |
C |
A |
8: 4,264,177 (GRCm39) |
|
probably benign |
Het |
Ptprq |
C |
A |
10: 107,353,748 (GRCm39) |
C2256F |
probably damaging |
Het |
Rassf5 |
G |
A |
1: 131,172,716 (GRCm39) |
A51V |
probably damaging |
Het |
Retnla |
A |
G |
16: 48,663,258 (GRCm39) |
I54V |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,880,961 (GRCm39) |
L142P |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,216,484 (GRCm39) |
T564A |
probably benign |
Het |
Robo4 |
G |
A |
9: 37,314,829 (GRCm39) |
E228K |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Rusc1 |
A |
T |
3: 88,996,319 (GRCm39) |
L132Q |
probably damaging |
Het |
Serpinb9h |
A |
T |
13: 33,588,427 (GRCm39) |
E337D |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,377,455 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
A |
T |
12: 73,356,970 (GRCm39) |
K122M |
probably damaging |
Het |
Speer4a2 |
A |
G |
5: 26,290,691 (GRCm39) |
I160T |
probably benign |
Het |
Susd5 |
A |
T |
9: 113,924,726 (GRCm39) |
D203V |
probably damaging |
Het |
Trip4 |
G |
A |
9: 65,786,434 (GRCm39) |
R110* |
probably null |
Het |
Tuba4a |
T |
A |
1: 75,193,518 (GRCm39) |
I95F |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,070,267 (GRCm39) |
S70T |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,215,256 (GRCm39) |
I1027V |
possibly damaging |
Het |
Unc80 |
G |
A |
1: 66,716,630 (GRCm39) |
V2917I |
probably benign |
Het |
Vmn1r70 |
T |
A |
7: 10,367,598 (GRCm39) |
C29S |
probably benign |
Het |
Vmn2r94 |
A |
T |
17: 18,477,996 (GRCm39) |
D138E |
probably benign |
Het |
Wee2 |
C |
T |
6: 40,426,617 (GRCm39) |
H129Y |
probably damaging |
Het |
Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
Zfp872 |
A |
T |
9: 22,108,427 (GRCm39) |
D42V |
probably benign |
Het |
Zic5 |
T |
G |
14: 122,702,386 (GRCm39) |
D115A |
unknown |
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 |
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 |
|
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'- CTTCAATAGGATACCAAAGGCAACG -3'
(R):5'- AGTTCTCAGTGCCGTTTTAAGC -3'
Sequencing Primer
(F):5'- AAGGCAACGCTTGTTCAGTC -3'
(R):5'- GCCGTTTTAAGCTTAAGGAACTGC -3'
|
Posted On |
2018-02-27 |