Incidental Mutation 'IGL02476:Lypd6'
ID 294938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lypd6
Ensembl Gene ENSMUSG00000050447
Gene Name LY6/PLAUR domain containing 6
Synonyms E130115E03Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # IGL02476
Quality Score
Status
Chromosome 2
Chromosomal Location 49956441-50083581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50080740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 143 (T143A)
Ref Sequence ENSEMBL: ENSMUSP00000131002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053208] [ENSMUST00000112712] [ENSMUST00000128451] [ENSMUST00000169232]
AlphaFold Q8BPP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053208
AA Change: T143A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061578
Gene: ENSMUSG00000050447
AA Change: T143A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LU 47 141 1.04e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112712
AA Change: T143A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108332
Gene: ENSMUSG00000050447
AA Change: T143A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LU 47 141 1.04e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128451
SMART Domains Protein: ENSMUSP00000116803
Gene: ENSMUSG00000050447

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Blast:LU 47 123 4e-51 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000169232
AA Change: T143A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131002
Gene: ENSMUSG00000050447
AA Change: T143A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LU 47 141 1.04e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,320,683 (GRCm39) probably benign Het
Birc6 A G 17: 75,003,386 (GRCm39) E4752G possibly damaging Het
Chd1 C T 17: 15,954,535 (GRCm39) P468S probably damaging Het
Cnot3 A G 7: 3,661,067 (GRCm39) D556G probably benign Het
Csnk1d A G 11: 120,863,338 (GRCm39) Y201H probably damaging Het
Dhtkd1 A G 2: 5,935,717 (GRCm39) S132P possibly damaging Het
Dhx58 G T 11: 100,593,090 (GRCm39) Q206K probably benign Het
Dio1 C A 4: 107,149,574 (GRCm39) V195F probably damaging Het
Dio3 T C 12: 110,245,916 (GRCm39) V84A probably benign Het
Dnai4 T A 4: 102,944,545 (GRCm39) I3L possibly damaging Het
Extl3 T C 14: 65,314,693 (GRCm39) K163R probably benign Het
Fat2 A T 11: 55,201,950 (GRCm39) S375T probably damaging Het
Fbrs A G 7: 127,086,841 (GRCm39) D73G probably damaging Het
Fnip1 A G 11: 54,390,393 (GRCm39) probably benign Het
Frmpd4 A G X: 166,280,851 (GRCm39) V343A probably damaging Het
Gcc1 T C 6: 28,420,468 (GRCm39) D283G probably benign Het
Ghr T C 15: 3,349,528 (GRCm39) D550G probably damaging Het
Glycam1 G A 15: 103,471,307 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,369,417 (GRCm39) S1374P probably damaging Het
Grm1 A T 10: 10,565,197 (GRCm39) M1037K probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Ifi205 G T 1: 173,842,627 (GRCm39) N356K probably damaging Het
Ifi206 A G 1: 173,309,132 (GRCm39) L288P probably benign Het
Ift57 T C 16: 49,584,252 (GRCm39) V291A probably benign Het
Kif13a A C 13: 46,938,772 (GRCm39) C166G probably damaging Het
Mtus2 G A 5: 148,014,748 (GRCm39) A514T probably benign Het
Neu2 T C 1: 87,524,674 (GRCm39) W220R probably damaging Het
Notch3 T C 17: 32,377,612 (GRCm39) S155G possibly damaging Het
Nrxn2 A G 19: 6,505,015 (GRCm39) E286G probably damaging Het
Onecut3 A G 10: 80,349,724 (GRCm39) E406G probably benign Het
Oog2 T A 4: 143,921,799 (GRCm39) D236E probably benign Het
Pck1 A G 2: 173,000,075 (GRCm39) H502R probably benign Het
Pld1 A G 3: 28,102,188 (GRCm39) Y313C probably damaging Het
Rhox3f A T X: 36,763,192 (GRCm39) probably benign Het
Rpl34 A G 3: 130,520,613 (GRCm39) probably benign Het
Sema4c T C 1: 36,595,031 (GRCm39) K31E probably damaging Het
Septin11 T C 5: 93,296,443 (GRCm39) probably null Het
Slc4a9 T A 18: 36,668,498 (GRCm39) probably null Het
Snrnp200 T A 2: 127,059,408 (GRCm39) S434T probably benign Het
Snx13 A T 12: 35,136,940 (GRCm39) I134F probably damaging Het
Syt2 T C 1: 134,675,369 (GRCm39) S407P probably benign Het
Tbc1d19 T C 5: 54,046,755 (GRCm39) probably null Het
Tbc1d32 G T 10: 56,074,638 (GRCm39) Q192K possibly damaging Het
Ubr4 T A 4: 139,148,560 (GRCm39) C1681* probably null Het
Vmn1r43 T A 6: 89,847,043 (GRCm39) I148F possibly damaging Het
Vwa8 T C 14: 79,162,781 (GRCm39) V187A possibly damaging Het
Other mutations in Lypd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Lypd6 APN 2 50,078,795 (GRCm39) missense probably benign 0.16
R0098:Lypd6 UTSW 2 50,080,792 (GRCm39) missense probably benign 0.01
R0098:Lypd6 UTSW 2 50,080,792 (GRCm39) missense probably benign 0.01
R0302:Lypd6 UTSW 2 50,055,679 (GRCm39) splice site probably benign
R0464:Lypd6 UTSW 2 50,080,690 (GRCm39) missense probably damaging 1.00
R1577:Lypd6 UTSW 2 50,080,710 (GRCm39) nonsense probably null
R1843:Lypd6 UTSW 2 50,078,774 (GRCm39) missense possibly damaging 0.94
R2849:Lypd6 UTSW 2 50,055,664 (GRCm39) missense probably damaging 1.00
R4663:Lypd6 UTSW 2 50,063,623 (GRCm39) nonsense probably null
R4716:Lypd6 UTSW 2 50,078,855 (GRCm39) critical splice donor site probably null
R5802:Lypd6 UTSW 2 50,063,613 (GRCm39) missense probably benign 0.25
R8171:Lypd6 UTSW 2 50,080,759 (GRCm39) missense possibly damaging 0.90
R8798:Lypd6 UTSW 2 50,078,774 (GRCm39) missense possibly damaging 0.94
R9653:Lypd6 UTSW 2 50,080,758 (GRCm39) missense probably benign 0.01
Z1177:Lypd6 UTSW 2 50,080,819 (GRCm39) frame shift probably null
Posted On 2015-04-16