Incidental Mutation 'IGL02008:Lnpep'
| ID |
183240 |
| 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 # |
IGL02008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17791219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 442
(T442A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: T442A
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: T442A
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,969,750 (GRCm39) |
T2252A |
probably benign |
Het |
| Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
| Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,671,766 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
| Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,291 (GRCm39) |
V161D |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
| Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
| Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
| Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
| Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
| Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
| Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
| Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
| Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
| Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
| Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
| Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
| Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
| Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
| Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
| Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,260,129 (GRCm39) |
R45W |
probably damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
| Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
| Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Tbc1d32 |
G |
T |
10: 56,027,871 (GRCm39) |
Q744K |
possibly damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
| Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
probably benign |
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 |
|
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 |
|
|
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 |
Incidental Mutation