Incidental Mutation 'R8070:Lnpep'
| ID |
620263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
067505-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17758900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 815
(S815P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041047
AA Change: S815P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: S815P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,510 (GRCm39) |
E82G |
probably benign |
Het |
| 9830107B12Rik |
A |
G |
17: 48,452,681 (GRCm39) |
F86S |
probably damaging |
Het |
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Acta1 |
T |
A |
8: 124,620,360 (GRCm39) |
D26V |
possibly damaging |
Het |
| Adra1d |
A |
C |
2: 131,403,502 (GRCm39) |
L196R |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,909 (GRCm39) |
C132Y |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,170,226 (GRCm39) |
V92A |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,844 (GRCm39) |
I149K |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,674,041 (GRCm39) |
M312V |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,978,643 (GRCm39) |
V381E |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,369,720 (GRCm39) |
V207I |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,870,030 (GRCm39) |
Q629R |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,867,606 (GRCm39) |
V479L |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,101,506 (GRCm39) |
S1407P |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,681,523 (GRCm39) |
V39A |
possibly damaging |
Het |
| Cwh43 |
T |
A |
5: 73,578,806 (GRCm39) |
M357K |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,386,180 (GRCm39) |
D351E |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,576 (GRCm39) |
I517V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,915,497 (GRCm39) |
E4374G |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,275,922 (GRCm39) |
S336P |
possibly damaging |
Het |
| Enoph1 |
A |
T |
5: 100,208,841 (GRCm39) |
E65D |
probably benign |
Het |
| Fam83f |
T |
A |
15: 80,556,281 (GRCm39) |
L55Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,401,472 (GRCm39) |
F379L |
|
Het |
| Fscb |
A |
T |
12: 64,521,382 (GRCm39) |
M28K |
probably benign |
Het |
| Gas7 |
G |
A |
11: 67,574,260 (GRCm39) |
V412M |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,727,057 (GRCm39) |
V638E |
probably benign |
Het |
| Ggt1 |
A |
T |
10: 75,414,733 (GRCm39) |
I184F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,629 (GRCm39) |
N1103S |
probably benign |
Het |
| Gm5592 |
G |
A |
7: 40,935,887 (GRCm39) |
A130T |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,394,230 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
A |
1: 150,525,743 (GRCm39) |
E3327* |
probably null |
Het |
| Ighv1-36 |
C |
T |
12: 114,843,656 (GRCm39) |
G68E |
probably damaging |
Het |
| Igkv6-32 |
G |
A |
6: 70,051,089 (GRCm39) |
T89M |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,652,014 (GRCm39) |
D931G |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,330,631 (GRCm39) |
E437G |
probably benign |
Het |
| Lingo3 |
C |
T |
10: 80,671,955 (GRCm39) |
|
probably benign |
Het |
| Ly6a |
T |
C |
15: 74,869,449 (GRCm39) |
D2G |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,078 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
C |
3: 30,033,987 (GRCm39) |
E239G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,852,838 (GRCm39) |
V889A |
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,938,986 (GRCm39) |
N1675I |
probably benign |
Het |
| Ndrg4 |
T |
C |
8: 96,426,756 (GRCm39) |
F50L |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,508,293 (GRCm39) |
Y286C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,604 (GRCm39) |
D195G |
probably damaging |
Het |
| Or2y14 |
A |
T |
11: 49,404,941 (GRCm39) |
T159S |
probably damaging |
Het |
| Or4p21 |
G |
T |
2: 88,277,003 (GRCm39) |
T93K |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,809,741 (GRCm39) |
L407P |
possibly damaging |
Het |
| Pgm2 |
A |
G |
5: 64,269,425 (GRCm39) |
N504S |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,283 (GRCm39) |
M656V |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,209 (GRCm39) |
T189A |
unknown |
Het |
| Ppp1r12b |
T |
C |
1: 134,803,807 (GRCm39) |
S451G |
probably benign |
Het |
| Prox1 |
T |
G |
1: 189,893,107 (GRCm39) |
N446T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,195,199 (GRCm39) |
R1195S |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,701,832 (GRCm39) |
D37G |
probably damaging |
Het |
| Tfip11 |
T |
A |
5: 112,482,796 (GRCm39) |
M560K |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,320 (GRCm39) |
V260A |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,434,476 (GRCm39) |
M41T |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,249 (GRCm39) |
S68P |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,661 (GRCm39) |
N826S |
probably damaging |
Het |
| Tuba3a |
T |
C |
6: 125,255,433 (GRCm39) |
E414G |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,695 (GRCm39) |
I502V |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,336 (GRCm39) |
Y245F |
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 |
|
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 |
|
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'- TCTAGTATCCATACACATGTGAACT -3'
(R):5'- GTGATAACATGTGCCTATAATGTCA -3'
Sequencing Primer
(F):5'- AGTGAATACAGTGGGATATCATTCC -3'
(R):5'- GAGAATTGTATATTCAAGGCCAGCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation