Incidental Mutation 'R0528:Lnpep'
ID 49023
Institutional Source Beutler Lab
Gene Symbol Lnpep
Ensembl Gene ENSMUSG00000023845
Gene Name leucyl/cystinyl aminopeptidase
Synonyms IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0528 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 17747985-17846303 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 17751394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041047]
AlphaFold Q8C129
Predicted Effect probably benign
Transcript: ENSMUST00000041047
SMART Domains Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845

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: ENSMUST00000231515
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign 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
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
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'- GGAACACCACTGCTAAGTGATGTGATG -3'
(R):5'- AGCCTAGTCCAACCTGATTTACCTTGA -3'

Sequencing Primer
(F):5'- CAGCAAGGCACTAAGAGCAT -3'
(R):5'- GGCTCATATTGGAACCCAATGC -3'
Posted On 2013-06-12