Incidental Mutation 'IGL02008:Lnpep'
ID183240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lnpep
Ensembl Gene ENSMUSG00000023845
Gene Nameleucyl/cystinyl aminopeptidase
Synonymsgp160, 4732490P18Rik, 2010309L07Rik, IRAP, vp165
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02008
Quality Score
Status
Chromosome17
Chromosomal Location17521410-17625050 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17570957 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 442 (T442A)
Ref Sequence ENSEMBL: ENSMUSP00000036998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041047]
Predicted Effect probably benign
Transcript: ENSMUST00000041047
AA Change: T442A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: T442A

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
Coding Region Coverage
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 T2252A probably benign Het
Abcc2 C T 19: 43,821,750 probably benign Het
Abcf1 T C 17: 35,962,062 E231G probably benign Het
Astn2 T C 4: 66,059,153 Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 probably benign Het
Atr T A 9: 95,881,420 probably benign Het
Bdp1 A G 13: 100,023,827 S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 S146P probably damaging Het
Cacna1c T C 6: 118,715,924 S218G probably null Het
Cand2 T C 6: 115,803,638 V1161A probably damaging Het
Clec16a T C 16: 10,580,960 V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 V161D probably damaging Het
Ctsh A G 9: 90,061,547 Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 W212* probably null Het
Dnah5 T A 15: 28,343,552 M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 M794T probably damaging Het
F11 G T 8: 45,250,095 S186Y probably damaging Het
Fam184b A T 5: 45,532,823 F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 I347V probably benign Het
Fip1l1 C T 5: 74,545,423 T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 D598A probably benign Het
Gm1110 T A 9: 26,883,230 D500V probably benign Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm3248 T A 14: 5,943,928 M99L probably benign Het
Gm906 G A 13: 50,246,685 P535L probably benign Het
Hspa9 G A 18: 34,947,975 R218* probably null Het
Ikbip G A 10: 91,093,257 probably null Het
Kcnb2 C T 1: 15,710,809 T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 I259F possibly damaging Het
Mgat1 T A 11: 49,260,735 I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 S334R probably benign Het
Notch2 A T 3: 98,147,296 D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 V172A probably damaging Het
Olfr803 T A 10: 129,692,018 T8S probably benign Het
Olfr972 A T 9: 39,873,485 D70V probably damaging Het
Osr2 A G 15: 35,301,992 H246R probably damaging Het
Papolg T C 11: 23,879,898 R224G probably damaging Het
Pax6 T A 2: 105,692,278 probably null Het
Pcyox1 A G 6: 86,392,268 V192A probably benign Het
Phf1 C T 17: 26,935,286 A159V possibly damaging Het
Ppfia4 G A 1: 134,332,391 R45W probably damaging Het
Psmb9 T A 17: 34,183,679 K109M probably damaging Het
Ptprt T A 2: 161,927,673 Y424F probably benign Het
Ptrh2 A G 11: 86,689,766 I70V probably benign Het
Rnf213 G A 11: 119,418,309 probably benign Het
Rom1 T A 19: 8,928,004 I271F probably benign Het
Satb2 T A 1: 56,796,793 D731V possibly damaging Het
Serpinb7 G T 1: 107,448,129 G159V possibly damaging Het
Slit1 T C 19: 41,646,140 I393V probably damaging Het
Spata20 T A 11: 94,483,463 D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 Q744K possibly damaging Het
Thegl A T 5: 77,060,758 I378L probably benign Het
Tmem108 G T 9: 103,489,240 N517K possibly damaging Het
Trp63 T A 16: 25,862,461 N160K probably damaging Het
Ttll5 T C 12: 85,933,611 S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 R638H probably benign Het
Wdr3 A G 3: 100,150,982 S436P probably damaging Het
Zfp975 A T 7: 42,662,791 C133S probably damaging Het
Zfp976 A T 7: 42,614,232 probably benign Het
Zmiz1 A G 14: 25,656,879 M860V probably damaging Het
Zscan4d T C 7: 11,162,369 E358G probably benign Het
Other mutations in Lnpep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01983:Lnpep APN 17 17531178 missense probably damaging 1.00
IGL02040:Lnpep APN 17 17544905 missense probably benign 0.13
IGL02392:Lnpep APN 17 17579183 missense possibly damaging 0.48
IGL02417:Lnpep APN 17 17544903 missense possibly damaging 0.57
IGL02659:Lnpep APN 17 17570900 missense possibly damaging 0.83
IGL02697:Lnpep APN 17 17553193 missense probably benign
IGL02947:Lnpep APN 17 17570972 missense probably damaging 1.00
IGL03493:Lnpep APN 17 17579171 missense probably damaging 1.00
I0000:Lnpep UTSW 17 17578971 missense probably damaging 1.00
PIT4504001:Lnpep UTSW 17 17579027 missense probably benign 0.00
R0528:Lnpep UTSW 17 17531132 splice site probably benign
R0535:Lnpep UTSW 17 17571673 missense possibly damaging 0.91
R0540:Lnpep UTSW 17 17538554 missense probably damaging 1.00
R0586:Lnpep UTSW 17 17575396 splice site probably benign
R0607:Lnpep UTSW 17 17538554 missense probably damaging 1.00
R1502:Lnpep UTSW 17 17571644 missense probably damaging 1.00
R1570:Lnpep UTSW 17 17579156 missense probably damaging 1.00
R1733:Lnpep UTSW 17 17553313 missense probably benign 0.00
R1826:Lnpep UTSW 17 17562836 missense probably damaging 1.00
R2015:Lnpep UTSW 17 17579063 missense probably damaging 0.99
R2029:Lnpep UTSW 17 17568399 missense probably damaging 1.00
R4593:Lnpep UTSW 17 17579027 missense probably benign 0.00
R4638:Lnpep UTSW 17 17575307 missense probably damaging 1.00
R4741:Lnpep UTSW 17 17571658 missense probably damaging 1.00
R4919:Lnpep UTSW 17 17578911 missense probably damaging 1.00
R5030:Lnpep UTSW 17 17579309 missense probably damaging 1.00
R5111:Lnpep UTSW 17 17578610 missense possibly damaging 0.93
R5203:Lnpep UTSW 17 17537063 missense probably damaging 1.00
R5320:Lnpep UTSW 17 17546465 missense possibly damaging 0.83
R5419:Lnpep UTSW 17 17566730 missense probably damaging 1.00
R5535:Lnpep UTSW 17 17538694 missense probably benign 0.02
R5680:Lnpep UTSW 17 17579182 nonsense probably null
R6134:Lnpep UTSW 17 17553192 missense probably benign
R6142:Lnpep UTSW 17 17566681 critical splice donor site probably null
R6189:Lnpep UTSW 17 17566739 missense possibly damaging 0.46
R6225:Lnpep UTSW 17 17578983 missense possibly damaging 0.66
R6350:Lnpep UTSW 17 17562809 missense probably benign 0.01
R6357:Lnpep UTSW 17 17552914 missense probably benign 0.00
R6765:Lnpep UTSW 17 17530496 missense probably damaging 1.00
R6794:Lnpep UTSW 17 17531159 missense probably damaging 1.00
R7013:Lnpep UTSW 17 17568363 missense probably benign 0.04
R7208:Lnpep UTSW 17 17552910 nonsense probably null
R7268:Lnpep UTSW 17 17538541 missense probably benign
X0004:Lnpep UTSW 17 17544812 missense probably benign 0.00
Posted On2014-05-07