Incidental Mutation 'R0535:Lnpep'
| ID |
49444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
038727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17791935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 402
(E402G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: E402G
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: E402G
| 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: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,019 (GRCm39) |
S1069P |
probably benign |
Het |
| Acmsd |
A |
T |
1: 127,693,680 (GRCm39) |
I305L |
probably benign |
Het |
| Aco2 |
G |
A |
15: 81,797,418 (GRCm39) |
E625K |
possibly damaging |
Het |
| Acox1 |
G |
A |
11: 116,065,264 (GRCm39) |
T561I |
possibly damaging |
Het |
| Acox2 |
T |
A |
14: 8,256,753 (GRCm38) |
T37S |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,394,125 (GRCm39) |
K17M |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,301,969 (GRCm39) |
D116G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Cyp51 |
T |
C |
5: 4,149,202 (GRCm39) |
Q225R |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,521,558 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
T |
C |
2: 27,002,778 (GRCm39) |
Y73C |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,791,229 (GRCm39) |
C271R |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,368,877 (GRCm39) |
N321D |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,847,817 (GRCm39) |
F675L |
probably damaging |
Het |
| Gm6327 |
T |
C |
16: 12,578,241 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,538,824 (GRCm39) |
F157I |
possibly damaging |
Het |
| Gtpbp1 |
A |
T |
15: 79,591,933 (GRCm39) |
T94S |
probably damaging |
Het |
| Hdac2 |
T |
C |
10: 36,869,895 (GRCm39) |
F286L |
probably benign |
Het |
| Ighv3-6 |
A |
T |
12: 114,252,090 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
G |
11: 102,348,359 (GRCm39) |
V791A |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,881,835 (GRCm39) |
I796F |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,667,772 (GRCm39) |
K390R |
probably null |
Het |
| Krt42 |
C |
T |
11: 100,155,412 (GRCm39) |
C368Y |
probably damaging |
Het |
| Lancl1 |
A |
G |
1: 67,049,065 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,087,291 (GRCm39) |
Y177H |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,837,826 (GRCm39) |
F1185L |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,831,632 (GRCm39) |
I1727N |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,210 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,209 (GRCm39) |
E847G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,828,413 (GRCm39) |
G275E |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,329,488 (GRCm39) |
T278S |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,721,941 (GRCm39) |
S961T |
probably damaging |
Het |
| Or5ak22 |
A |
G |
2: 85,230,439 (GRCm39) |
L146P |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,059,434 (GRCm39) |
V81A |
probably benign |
Het |
| Phf2 |
A |
G |
13: 48,967,423 (GRCm39) |
Y675H |
unknown |
Het |
| Phldb2 |
A |
G |
16: 45,577,490 (GRCm39) |
V1145A |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,978 (GRCm39) |
S1058P |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,351,903 (GRCm39) |
N120S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,256,274 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,554 (GRCm39) |
Y287C |
probably benign |
Het |
| Syde2 |
G |
A |
3: 145,694,925 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
A |
16: 90,744,975 (GRCm39) |
V1190F |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,444,530 (GRCm39) |
I515N |
probably benign |
Het |
| Tmem259 |
A |
T |
10: 79,814,429 (GRCm39) |
V309E |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,833,077 (GRCm39) |
V494E |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,272,778 (GRCm39) |
E119V |
probably null |
Het |
| Vmn1r1 |
T |
A |
1: 181,985,516 (GRCm39) |
I50L |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,347,404 (GRCm39) |
F118S |
possibly damaging |
Het |
| Xpc |
C |
T |
6: 91,481,560 (GRCm39) |
V254I |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,640,201 (GRCm39) |
Q97* |
probably null |
Het |
| Zscan5b |
A |
G |
7: 6,236,911 (GRCm39) |
E220G |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTCCCTACGTCTAAATGCTCGG -3'
(R):5'- TGTTTGCTGGTCCTAACAGTGCTC -3'
Sequencing Primer
(F):5'- GTTCTTCAGAACCAGTGTCACG -3'
(R):5'- CCTGCCTTTACACCATGGATT -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation