Incidental Mutation 'IGL02947:Lnpep'
List |< first << previous [record 21 of 50] next >> last >|
ID364786
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 #IGL02947
Quality Score
Status
Chromosome17
Chromosomal Location17521410-17625050 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17570972 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 437 (T437A)
Ref Sequence ENSEMBL: ENSMUSP00000036998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041047]
Predicted Effect probably damaging
Transcript: ENSMUST00000041047
AA Change: T437A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: T437A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cpb2 A C 14: 75,283,318 Y391S probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Gpn3 T C 5: 122,378,488 V60A possibly damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Kpna7 T C 5: 144,994,074 I320M probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr446 A G 6: 42,927,896 I222V probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Tmem53 C T 4: 117,268,088 Q111* probably null Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Lnpep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01983:Lnpep APN 17 17531178 missense probably damaging 1.00
IGL02008:Lnpep APN 17 17570957 missense probably benign 0.40
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
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
R7564:Lnpep UTSW 17 17578592 missense probably benign 0.22
R7746:Lnpep UTSW 17 17538562 missense probably benign
R7853:Lnpep UTSW 17 17562847 missense probably benign 0.00
R7881:Lnpep UTSW 17 17566739 missense probably benign 0.01
R8015:Lnpep UTSW 17 17546499 missense probably damaging 1.00
R8070:Lnpep UTSW 17 17538638 missense probably damaging 1.00
R8835:Lnpep UTSW 17 17529856 missense possibly damaging 0.81
R8843:Lnpep UTSW 17 17552941 missense probably damaging 1.00
X0004:Lnpep UTSW 17 17544812 missense probably benign 0.00
Posted On2015-12-18