Incidental Mutation 'R4593:Lnpep'
ID 344237
Institutional Source Beutler Lab
Gene Symbol Lnpep
Ensembl Gene ENSMUSG00000023845
Gene Name leucyl/cystinyl aminopeptidase
Synonyms IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165
MMRRC Submission 041809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4593 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 17747985-17846303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17799289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 122 (V122A)
Ref Sequence ENSEMBL: ENSMUSP00000036998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041047]
AlphaFold Q8C129
Predicted Effect probably benign
Transcript: ENSMUST00000041047
AA Change: V122A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: V122A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1630 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Atm G T 9: 53,364,894 (GRCm39) A8E possibly damaging Het
Atxn3 A T 12: 101,889,436 (GRCm39) M333K probably benign Het
Cd86 A G 16: 36,426,918 (GRCm39) *310R probably null Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dgat1 C A 15: 76,388,889 (GRCm39) R111S probably damaging Het
Dner T C 1: 84,673,449 (GRCm39) M1V probably null Het
Dnhd1 G A 7: 105,364,653 (GRCm39) D4240N probably benign Het
Emp3 A G 7: 45,568,777 (GRCm39) L27P probably damaging Het
Glra3 G T 8: 56,393,916 (GRCm39) G9V probably damaging Het
Gpr149 A T 3: 62,510,151 (GRCm39) probably benign Het
Ighv1-9 T C 12: 114,547,224 (GRCm39) T105A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Ldhd T C 8: 112,355,996 (GRCm39) D129G probably damaging Het
Lrrc37a A G 11: 103,389,795 (GRCm39) Y1877H possibly damaging Het
Med13l T C 5: 118,880,625 (GRCm39) L1239P probably damaging Het
Mib1 T C 18: 10,768,191 (GRCm39) L480S possibly damaging Het
Mkrn3 C T 7: 62,068,552 (GRCm39) W413* probably null Het
Myo7b A G 18: 32,146,428 (GRCm39) V119A possibly damaging Het
Nexn T A 3: 151,958,553 (GRCm39) R113S probably damaging Het
Npas3 A T 12: 54,115,280 (GRCm39) Q703L probably benign Het
Npr2 A G 4: 43,647,323 (GRCm39) probably benign Het
Nub1 A G 5: 24,914,119 (GRCm39) Y624C probably damaging Het
Obscn A C 11: 59,024,075 (GRCm39) S532A probably damaging Het
Or1e33 T A 11: 73,738,140 (GRCm39) K270N probably benign Het
Or9g20 A G 2: 85,630,008 (GRCm39) L202P probably damaging Het
Panx2 T C 15: 88,952,118 (GRCm39) I195T probably damaging Het
Parp11 T C 6: 127,451,262 (GRCm39) I104T probably benign Het
Pkd1l1 G T 11: 8,851,253 (GRCm39) D726E probably damaging Het
Pom121l2 C T 13: 22,168,623 (GRCm39) R965W probably damaging Het
Prrc2c T C 1: 162,525,101 (GRCm39) K502E probably damaging Het
Rasa1 T C 13: 85,386,340 (GRCm39) probably null Het
Sva T C 6: 42,019,592 (GRCm39) S151P possibly damaging Het
Svep1 T C 4: 58,091,944 (GRCm39) N1564D possibly damaging Het
Unk T C 11: 115,939,882 (GRCm39) I129T probably benign Het
Urb1 T C 16: 90,584,332 (GRCm39) D550G probably damaging Het
Vmn1r194 T A 13: 22,428,461 (GRCm39) M26K possibly damaging Het
Vmn1r59 A T 7: 5,457,686 (GRCm39) F25I possibly damaging Het
Vmn1r88 A G 7: 12,911,769 (GRCm39) K42E probably damaging Het
Zbtb24 A G 10: 41,327,953 (GRCm39) R280G possibly damaging Het
Other mutations in Lnpep
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCCCTGAATGTCATTGAGGTTAG -3'
(R):5'- CTTGGTGAGCATGAGATGGAC -3'

Sequencing Primer
(F):5'- TGGATGTAGGCTAAGTTCATAGC -3'
(R):5'- CGAGGATGAAGAGGATTATGAGTCC -3'
Posted On 2015-09-25