Incidental Mutation 'R7564:Lnpep'
| ID |
585334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
045656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7564 (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 17798854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 267
(I267T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: I267T
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: I267T
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (56/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
G |
A |
9: 104,000,288 (GRCm39) |
E681K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,688,501 (GRCm39) |
M411K |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Bag4 |
G |
A |
8: 26,267,507 (GRCm39) |
R108* |
probably null |
Het |
| Cpa1 |
C |
T |
6: 30,641,767 (GRCm39) |
T197M |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,218 (GRCm39) |
V50A |
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,325 (GRCm39) |
D665G |
probably damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,588,297 (GRCm39) |
V499I |
probably damaging |
Het |
| Depdc5 |
T |
G |
5: 33,058,854 (GRCm39) |
I274M |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,570,817 (GRCm39) |
Q2219L |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,170,272 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,617,159 (GRCm39) |
S289R |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,140 (GRCm39) |
L1037P |
unknown |
Het |
| Fsip2 |
G |
A |
2: 82,819,361 (GRCm39) |
M5031I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,274,151 (GRCm39) |
M1435V |
probably benign |
Het |
| Gm8005 |
G |
T |
14: 42,261,499 (GRCm39) |
Q44K |
|
Het |
| Hdgfl2 |
T |
A |
17: 56,406,860 (GRCm39) |
D591E |
unknown |
Het |
| Hk3 |
C |
A |
13: 55,159,209 (GRCm39) |
C449F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,531,586 (GRCm39) |
M3228V |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,743,337 (GRCm39) |
R773C |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,500,612 (GRCm39) |
V659A |
probably benign |
Het |
| Lhb |
C |
T |
7: 45,071,101 (GRCm39) |
R109C |
probably damaging |
Het |
| Lypla1 |
T |
A |
1: 4,878,590 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,447 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
G |
2: 119,844,232 (GRCm39) |
T319A |
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,935,455 (GRCm39) |
T854A |
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,495 (GRCm39) |
T173A |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,678,322 (GRCm39) |
R668H |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,767,582 (GRCm39) |
E297K |
possibly damaging |
Het |
| Nrg2 |
A |
T |
18: 36,157,449 (GRCm39) |
L412Q |
probably damaging |
Het |
| Nrtn |
T |
C |
17: 57,058,473 (GRCm39) |
D176G |
probably damaging |
Het |
| Nrxn1 |
G |
T |
17: 90,670,334 (GRCm39) |
Q1134K |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or51t4 |
C |
T |
7: 102,598,473 (GRCm39) |
P267L |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,139,781 (GRCm39) |
V360A |
unknown |
Het |
| Pigr |
T |
A |
1: 130,769,403 (GRCm39) |
N71K |
possibly damaging |
Het |
| Ppox |
T |
C |
1: 171,107,765 (GRCm39) |
N96S |
probably benign |
Het |
| Pramel29 |
C |
A |
4: 143,939,525 (GRCm39) |
C4F |
probably damaging |
Het |
| Qrfprl |
G |
T |
6: 65,429,891 (GRCm39) |
E196* |
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,376,827 (GRCm39) |
T603A |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,603,770 (GRCm39) |
L97P |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,887,415 (GRCm39) |
I147V |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,760 (GRCm39) |
P630S |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,937 (GRCm39) |
T581A |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,498 (GRCm39) |
I380T |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,108 (GRCm39) |
V178D |
probably damaging |
Het |
| Smad7 |
C |
A |
18: 75,526,906 (GRCm39) |
L251I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,426,434 (GRCm39) |
S151N |
probably benign |
Het |
| St3gal4 |
C |
T |
9: 34,963,549 (GRCm39) |
R253Q |
probably benign |
Het |
| Trappc14 |
C |
A |
5: 138,261,104 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
T |
C |
17: 46,787,857 (GRCm39) |
I242V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,798,864 (GRCm39) |
A470V |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,091,258 (GRCm39) |
V28A |
probably damaging |
Het |
| Vmn1r149 |
A |
G |
7: 22,137,530 (GRCm39) |
V42A |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,752,740 (GRCm39) |
C514* |
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,662,366 (GRCm39) |
C570* |
probably null |
Het |
| Zfp277 |
T |
A |
12: 40,379,594 (GRCm39) |
R313S |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,967 (GRCm39) |
C186S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,248,954 (GRCm39) |
|
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 |
|
|
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'- TCATCTCAGAAAGCATGAAAAGCTC -3'
(R):5'- AGGCTCTTCAAGACACACGG -3'
Sequencing Primer
(F):5'- GCCATTCTACTGTACATATAACTTCG -3'
(R):5'- GGGATATCATTCTCCATAGCACAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation