Incidental Mutation 'R7853:Lnpep'
ID 607102
Institutional Source Beutler Lab
Gene Symbol Lnpep
Ensembl Gene ENSMUSG00000023845
Gene Name leucyl/cystinyl aminopeptidase
Synonyms IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 17747985-17846303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17783109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 564 (S564N)
Ref Sequence ENSEMBL: ENSMUSP00000036998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041047]
AlphaFold Q8C129
Predicted Effect probably benign
Transcript: ENSMUST00000041047
AA Change: S564N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: S564N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) 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
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
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'- AGGTACAGAATAATATGACCATCCAGG -3'
(R):5'- TGGTCTACATCTGTGTACATGGAAG -3'

Sequencing Primer
(F):5'- ACAAACAGTACTTTCACTTCTTGAC -3'
(R):5'- CCATGTTGTATATGTGAAGTC -3'
Posted On 2019-12-20