Incidental Mutation 'R8171:Lypd6'
ID 634082
Institutional Source Beutler Lab
Gene Symbol Lypd6
Ensembl Gene ENSMUSG00000050447
Gene Name LY6/PLAUR domain containing 6
Synonyms E130115E03Rik
MMRRC Submission 067597-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R8171 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 50066429-50193569 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50190747 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 149 (T149M)
Ref Sequence ENSEMBL: ENSMUSP00000061578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053208] [ENSMUST00000112712] [ENSMUST00000128451] [ENSMUST00000169232]
AlphaFold Q8BPP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053208
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061578
Gene: ENSMUSG00000050447
AA Change: T149M

signal peptide 1 25 N/A INTRINSIC
LU 47 141 1.04e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112712
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108332
Gene: ENSMUSG00000050447
AA Change: T149M

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

signal peptide 1 25 N/A INTRINSIC
Blast:LU 47 123 4e-51 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000169232
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131002
Gene: ENSMUSG00000050447
AA Change: T149M

signal peptide 1 25 N/A INTRINSIC
LU 47 141 1.04e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,662,025 (GRCm38) A661E probably benign Het
4932438A13Rik T C 3: 36,975,713 (GRCm38) V2423A probably benign Het
4933425L06Rik T A 13: 105,109,783 (GRCm38) V284E probably benign Het
Abhd14a T A 9: 106,440,761 (GRCm38) T142S probably benign Het
Actn1 A G 12: 80,196,393 (GRCm38) probably null Het
Adss T C 1: 177,796,351 (GRCm38) N15S probably benign Het
Alpk2 A G 18: 65,305,983 (GRCm38) S780P probably benign Het
Asap1 G T 15: 64,110,966 (GRCm38) L830M probably damaging Het
Atic T C 1: 71,569,873 (GRCm38) V319A possibly damaging Het
Atp8a2 A T 14: 60,046,044 (GRCm38) I87N probably damaging Het
Bace2 G T 16: 97,424,586 (GRCm38) V407L possibly damaging Het
Bmp3 A T 5: 98,872,669 (GRCm38) Y317F probably damaging Het
Ccdc159 A G 9: 21,933,711 (GRCm38) E291G possibly damaging Het
Cct8l1 T A 5: 25,516,554 (GRCm38) L89Q probably damaging Het
Cep83 T A 10: 94,768,935 (GRCm38) N503K possibly damaging Het
Ces4a A G 8: 105,147,207 (GRCm38) Y436C probably damaging Het
Cftr T A 6: 18,258,288 (GRCm38) D579E probably damaging Het
Chd9 T A 8: 91,025,387 (GRCm38) V1751D possibly damaging Het
Clasp2 A T 9: 113,903,906 (GRCm38) T937S possibly damaging Het
Clock T A 5: 76,266,414 (GRCm38) D17V possibly damaging Het
Cpm T C 10: 117,683,315 (GRCm38) L376P probably damaging Het
Crocc2 T C 1: 93,189,001 (GRCm38) probably null Het
Csnk1g2 A G 10: 80,639,802 (GRCm38) D401G probably damaging Het
Cyb5r4 C T 9: 87,042,810 (GRCm38) L206F possibly damaging Het
Cyp1a1 T A 9: 57,700,196 (GRCm38) W36R probably benign Het
Cyp3a59 A T 5: 146,085,774 (GRCm38) H30L probably damaging Het
Dab2 G A 15: 6,423,926 (GRCm38) V182I probably benign Het
Dnah1 G T 14: 31,297,110 (GRCm38) F1342L probably damaging Het
Draxin A T 4: 148,115,666 (GRCm38) L109Q possibly damaging Het
Elfn1 G A 5: 139,971,357 (GRCm38) V39M probably damaging Het
Erlin1 A G 19: 44,069,329 (GRCm38) I19T probably benign Het
F830016B08Rik T A 18: 60,300,078 (GRCm38) S78T possibly damaging Het
Fer1l4 A G 2: 156,048,231 (GRCm38) V258A probably benign Het
Fgb T C 3: 83,042,515 (GRCm38) D445G probably damaging Het
Fgd6 T C 10: 94,074,332 (GRCm38) probably null Het
Frem3 T A 8: 80,615,240 (GRCm38) D1387E probably damaging Het
Gdf3 T C 6: 122,609,903 (GRCm38) T22A probably benign Het
Glcci1 C T 6: 8,593,167 (GRCm38) A511V probably benign Het
Gldc A T 19: 30,133,761 (GRCm38) N538K probably benign Het
Glipr1l1 C T 10: 112,078,384 (GRCm38) P217S probably benign Het
Gm35339 C A 15: 76,363,619 (GRCm38) F1614L Het
Gpr161 A G 1: 165,306,436 (GRCm38) N89S probably damaging Het
Gypa T A 8: 80,509,463 (GRCm38) S166T probably benign Het
Hcar1 A G 5: 123,879,089 (GRCm38) S180P probably damaging Het
Hcn1 T C 13: 117,602,734 (GRCm38) S11P unknown Het
Hectd4 A G 5: 121,318,756 (GRCm38) E728G possibly damaging Het
Ints14 A T 9: 64,973,250 (GRCm38) H213L possibly damaging Het
Itih1 A T 14: 30,937,090 (GRCm38) M323K possibly damaging Het
Ivl A G 3: 92,571,778 (GRCm38) S327P probably damaging Het
Kcnt2 T A 1: 140,509,465 (GRCm38) N545K probably benign Het
Kdm4b A T 17: 56,389,534 (GRCm38) R417W probably damaging Het
Kif13a T C 13: 46,778,968 (GRCm38) E1083G probably damaging Het
Klhl40 A T 9: 121,778,557 (GRCm38) H261L probably benign Het
Kpnb1 A G 11: 97,175,747 (GRCm38) probably null Het
Lamc3 C A 2: 31,914,971 (GRCm38) T621N probably benign Het
Lingo3 T C 10: 80,834,761 (GRCm38) H445R probably benign Het
Ly75 G A 2: 60,314,228 (GRCm38) T1297I possibly damaging Het
Mcrs1 A T 15: 99,248,732 (GRCm38) D139E probably damaging Het
Muc5b G A 7: 141,861,000 (GRCm38) S2561N unknown Het
Mybpc1 C T 10: 88,523,003 (GRCm38) G1095R probably damaging Het
Myh1 A G 11: 67,202,572 (GRCm38) Y163C probably damaging Het
Notch4 T A 17: 34,582,509 (GRCm38) C1110* probably null Het
Olfr1257 A G 2: 89,881,065 (GRCm38) I80V probably benign Het
Olfr527 A T 7: 140,336,230 (GRCm38) I123F probably damaging Het
Olfr705 C T 7: 106,714,618 (GRCm38) S21N probably benign Het
Olfr705 T A 7: 106,714,619 (GRCm38) S21C Het
Pcsk1 T A 13: 75,090,091 (GRCm38) C10* probably null Het
Pdlim5 A T 3: 142,312,187 (GRCm38) S107T probably benign Het
Plac8l1 T A 18: 42,180,380 (GRCm38) D99V probably damaging Het
Plin2 A T 4: 86,657,112 (GRCm38) V400E probably damaging Het
Plxna1 G A 6: 89,357,120 (GRCm38) P176S probably benign Het
Pnn A G 12: 59,070,437 (GRCm38) K238R probably damaging Het
Pou5f1 A G 17: 35,510,036 (GRCm38) E231G probably benign Het
Ppara A T 15: 85,797,876 (GRCm38) M258L probably benign Het
Prune2 G A 19: 17,120,518 (GRCm38) D1129N probably damaging Het
Rai14 G A 15: 10,633,163 (GRCm38) T47M probably damaging Het
Rdh5 T C 10: 128,918,100 (GRCm38) I117V probably benign Het
Rpain G A 11: 70,973,898 (GRCm38) C137Y probably damaging Het
Scn3a A G 2: 65,530,810 (GRCm38) V126A possibly damaging Het
Senp7 G T 16: 56,111,726 (GRCm38) L129F probably damaging Het
Setd1a A G 7: 127,791,227 (GRCm38) D1025G unknown Het
Sirt4 A T 5: 115,483,023 (GRCm38) V30E probably damaging Het
Slit1 C A 19: 41,727,073 (GRCm38) R113L probably damaging Het
Stxbp5l G A 16: 37,208,054 (GRCm38) T549I noncoding transcript Het
Sytl2 A G 7: 90,409,470 (GRCm38) M926V probably damaging Het
Tgfbr2 C T 9: 116,130,006 (GRCm38) W113* probably null Het
Tmem86a A G 7: 47,053,764 (GRCm38) Y213C probably damaging Het
Tpo T A 12: 30,104,046 (GRCm38) Y220F probably damaging Het
Ttc6 C A 12: 57,673,310 (GRCm38) A889E probably damaging Het
Tyw1 A G 5: 130,300,014 (GRCm38) D547G probably benign Het
Ubtfl1 A G 9: 18,409,227 (GRCm38) K17R probably benign Het
Usp46 T A 5: 74,002,693 (GRCm38) I331F probably benign Het
Vmn2r111 T C 17: 22,573,092 (GRCm38) H61R probably benign Het
Wdr75 T A 1: 45,822,546 (GRCm38) N715K probably benign Het
Zfp772 A T 7: 7,204,097 (GRCm38) C198* probably null Het
Other mutations in Lypd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Lypd6 APN 2 50,188,783 (GRCm38) missense probably benign 0.16
IGL02476:Lypd6 APN 2 50,190,728 (GRCm38) missense possibly damaging 0.84
R0098:Lypd6 UTSW 2 50,190,780 (GRCm38) missense probably benign 0.01
R0098:Lypd6 UTSW 2 50,190,780 (GRCm38) missense probably benign 0.01
R0302:Lypd6 UTSW 2 50,165,667 (GRCm38) splice site probably benign
R0464:Lypd6 UTSW 2 50,190,678 (GRCm38) missense probably damaging 1.00
R1577:Lypd6 UTSW 2 50,190,698 (GRCm38) nonsense probably null
R1843:Lypd6 UTSW 2 50,188,762 (GRCm38) missense possibly damaging 0.94
R2849:Lypd6 UTSW 2 50,165,652 (GRCm38) missense probably damaging 1.00
R4663:Lypd6 UTSW 2 50,173,611 (GRCm38) nonsense probably null
R4716:Lypd6 UTSW 2 50,188,843 (GRCm38) critical splice donor site probably null
R5802:Lypd6 UTSW 2 50,173,601 (GRCm38) missense probably benign 0.25
R8798:Lypd6 UTSW 2 50,188,762 (GRCm38) missense possibly damaging 0.94
R9653:Lypd6 UTSW 2 50,190,746 (GRCm38) missense probably benign 0.01
Z1177:Lypd6 UTSW 2 50,190,807 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-13