Incidental Mutation 'R5419:Lnpep'
| ID |
427955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
042987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5419 (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 17786992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 536
(S536P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041047
AA Change: S536P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: S536P
| 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: 97.3%
- 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
| Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
| Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
| Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
| Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
| Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
| Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
| Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
| Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
| Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
| Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
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 |
|
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 |
|
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'- TCACACTGACTAAAAGGGAGAC -3'
(R):5'- ATGCCTCAGTTCTCAGTGCC -3'
Sequencing Primer
(F):5'- CAAACGTTAAGACCAAACAGATTTAC -3'
(R):5'- GCCGTTTTAAGCTTAAGGAACTGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation