Incidental Mutation 'IGL02751:Lap3'
ID306305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lap3
Ensembl Gene ENSMUSG00000039682
Gene Nameleucine aminopeptidase 3
SynonymsPep-7, LAP, peptidase S, Pep-S, Pep7
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome5
Chromosomal Location45493374-45512691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45504796 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 313 (C313R)
Ref Sequence ENSEMBL: ENSMUSP00000040222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046122] [ENSMUST00000198534]
Predicted Effect probably damaging
Transcript: ENSMUST00000046122
AA Change: C313R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: C313R

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Peptidase_M17_N 37 169 1.5e-21 PFAM
Pfam:Peptidase_M17 197 508 1.3e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146811
Predicted Effect probably benign
Transcript: ENSMUST00000198534
SMART Domains Protein: ENSMUSP00000142831
Gene: ENSMUSG00000039682

DomainStartEndE-ValueType
SCOP:d1lam_1 11 56 2e-10 SMART
PDB:1LCP|B 12 107 5e-25 PDB
SCOP:d1lam_2 63 106 2e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Lap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Lap3 APN 5 45506169 unclassified probably benign
IGL00945:Lap3 APN 5 45504773 unclassified probably null
IGL01694:Lap3 APN 5 45498595 critical splice donor site probably null
IGL02427:Lap3 APN 5 45511133 missense probably damaging 0.99
R0110:Lap3 UTSW 5 45495290 splice site probably benign
R0666:Lap3 UTSW 5 45511928 missense possibly damaging 0.53
R1023:Lap3 UTSW 5 45495211 missense probably benign 0.04
R1157:Lap3 UTSW 5 45507148 missense probably damaging 1.00
R1294:Lap3 UTSW 5 45498521 missense probably benign 0.03
R1449:Lap3 UTSW 5 45509519 critical splice donor site probably null
R1869:Lap3 UTSW 5 45503387 missense probably benign 0.00
R1900:Lap3 UTSW 5 45511910 missense probably damaging 1.00
R1971:Lap3 UTSW 5 45506166 unclassified probably benign
R2009:Lap3 UTSW 5 45493557 missense probably benign 0.37
R4171:Lap3 UTSW 5 45509491 missense probably benign 0.45
R4708:Lap3 UTSW 5 45511138 missense probably damaging 1.00
R4941:Lap3 UTSW 5 45506197 missense probably benign 0.19
R5558:Lap3 UTSW 5 45504751 missense probably benign 0.00
R5761:Lap3 UTSW 5 45504805 missense probably benign 0.01
R5893:Lap3 UTSW 5 45511279 intron probably benign
R6407:Lap3 UTSW 5 45511925 missense probably damaging 1.00
R7144:Lap3 UTSW 5 45496948 missense probably benign 0.00
R7161:Lap3 UTSW 5 45498467 missense probably benign 0.23
R7489:Lap3 UTSW 5 45500506 missense probably damaging 1.00
Posted On2015-04-16