Incidental Mutation 'R7881:Lnpep'
| ID |
608788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
045933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7881 (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 G
at 17787001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 533
(S533P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: S533P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: S533P
| 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 |
|
| Meta Mutation Damage Score |
0.0616 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,685 (GRCm39) |
N1030S |
possibly damaging |
Het |
| 4930507D05Rik |
A |
G |
10: 62,285,303 (GRCm39) |
H9R |
unknown |
Het |
| Anks1b |
T |
A |
10: 90,802,880 (GRCm39) |
S398T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,122,871 (GRCm39) |
K139N |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,948,666 (GRCm39) |
H3047N |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,920,333 (GRCm39) |
S18F |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,031,277 (GRCm39) |
Y12C |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,705,271 (GRCm39) |
A585T |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,957,497 (GRCm39) |
N109S |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,198,893 (GRCm39) |
D180E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,997,450 (GRCm39) |
M546K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,237 (GRCm39) |
V3024I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,322,064 (GRCm39) |
D3752G |
probably damaging |
Het |
| Dram1 |
G |
T |
10: 88,160,609 (GRCm39) |
D237E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,426 (GRCm39) |
N626D |
probably benign |
Het |
| Elavl1 |
T |
G |
8: 4,361,763 (GRCm39) |
N3T |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,574,589 (GRCm39) |
V340A |
probably benign |
Het |
| Fer1l5 |
C |
T |
1: 36,446,117 (GRCm39) |
T876M |
not run |
Het |
| Foxp2 |
T |
A |
6: 15,409,888 (GRCm39) |
V471E |
unknown |
Het |
| Fstl5 |
G |
A |
3: 76,443,605 (GRCm39) |
G317R |
probably damaging |
Het |
| Gm32742 |
T |
C |
9: 51,060,414 (GRCm39) |
E963G |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,733 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,769,568 (GRCm39) |
C218Y |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,442 (GRCm39) |
H298R |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,967,591 (GRCm39) |
C72S |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,583,206 (GRCm39) |
M193T |
probably damaging |
Het |
| Khdc1c |
G |
T |
1: 21,439,899 (GRCm39) |
C150F |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,208 (GRCm39) |
S1485P |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,040,060 (GRCm39) |
V997E |
possibly damaging |
Het |
| Mob2 |
T |
C |
7: 141,563,177 (GRCm39) |
Y94C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Npepl1 |
A |
G |
2: 173,962,387 (GRCm39) |
D351G |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,328,352 (GRCm39) |
Q213* |
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,810,990 (GRCm39) |
D677G |
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,890,904 (GRCm39) |
E70G |
probably damaging |
Het |
| Or2b4 |
G |
T |
17: 38,116,320 (GRCm39) |
G95C |
probably damaging |
Het |
| Or56a3 |
G |
T |
7: 104,735,780 (GRCm39) |
V286F |
probably damaging |
Het |
| Or5aq7 |
G |
T |
2: 86,938,401 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5m3b |
C |
A |
2: 85,871,814 (GRCm39) |
Q52K |
probably benign |
Het |
| Or8c8 |
T |
A |
9: 38,165,406 (GRCm39) |
M228K |
probably benign |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,976,084 (GRCm39) |
T347N |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,100,393 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Ptch2 |
A |
G |
4: 116,967,585 (GRCm39) |
H751R |
probably benign |
Het |
| Ptges2 |
T |
A |
2: 32,292,243 (GRCm39) |
M353K |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,373,728 (GRCm39) |
Q564* |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,330,637 (GRCm39) |
D279G |
probably damaging |
Het |
| Rftn1 |
C |
T |
17: 50,354,463 (GRCm39) |
V300I |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,717,585 (GRCm39) |
T1172A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,544,244 (GRCm39) |
D74G |
unknown |
Het |
| Setd1b |
A |
G |
5: 123,290,336 (GRCm39) |
M768V |
unknown |
Het |
| Shld2 |
A |
T |
14: 33,989,724 (GRCm39) |
M394K |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,422,289 (GRCm39) |
H298L |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,701,704 (GRCm39) |
L977Q |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,403,332 (GRCm39) |
V800I |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,943,547 (GRCm39) |
S44P |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,586 (GRCm39) |
C190Y |
probably benign |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,104 (GRCm39) |
R582Q |
probably damaging |
Het |
| Tmem247 |
T |
A |
17: 87,229,728 (GRCm39) |
F190I |
probably damaging |
Het |
| Trim42 |
C |
A |
9: 97,245,070 (GRCm39) |
A577S |
possibly damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,528,726 (GRCm39) |
T61I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,923,435 (GRCm39) |
Q279* |
probably null |
Het |
| Usp48 |
A |
G |
4: 137,360,766 (GRCm39) |
N733S |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,487 (GRCm39) |
P568S |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,664,679 (GRCm39) |
W513R |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,410,440 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
A |
11: 95,640,935 (GRCm39) |
S287T |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,394,533 (GRCm39) |
A49V |
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 |
|
|
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 |
|
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'- GATACCAAAGGCAACGCTTG -3'
(R):5'- CATGCCTCAGTTCTCAGTGC -3'
Sequencing Primer
(F):5'- AAGGCAACGCTTGTTCAGTC -3'
(R):5'- GCCGTTTTAAGCTTAAGGAACTGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation