Incidental Mutation 'R6375:Lynx1'
ID 514932
Institutional Source Beutler Lab
Gene Symbol Lynx1
Ensembl Gene ENSMUSG00000022594
Gene Name Ly6/neurotoxin 1
Synonyms
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 74619705-74624828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74623168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 88 (Y88C)
Ref Sequence ENSEMBL: ENSMUSP00000023259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023259] [ENSMUST00000057932] [ENSMUST00000189128]
AlphaFold P0DP60
Predicted Effect probably damaging
Transcript: ENSMUST00000023259
AA Change: Y88C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023259
Gene: ENSMUSG00000022594
AA Change: Y88C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LU 21 104 4.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057932
SMART Domains Protein: ENSMUSP00000051457
Gene: ENSMUSG00000075605

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LU 23 95 4.44e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189696
Meta Mutation Damage Score 0.2399 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to nicotine, neurodegeneration, brain vacuoles amd improved cue-conditioned learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W probably damaging Het
Other mutations in Lynx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Lynx1 APN 15 74,623,491 (GRCm39) missense probably benign 0.27
PIT4366001:Lynx1 UTSW 15 74,623,258 (GRCm39) missense possibly damaging 0.79
R2512:Lynx1 UTSW 15 74,623,169 (GRCm39) missense probably damaging 1.00
R3926:Lynx1 UTSW 15 74,623,205 (GRCm39) missense probably damaging 1.00
R5463:Lynx1 UTSW 15 74,623,462 (GRCm39) nonsense probably null
R5982:Lynx1 UTSW 15 74,623,264 (GRCm39) missense possibly damaging 0.88
R7128:Lynx1 UTSW 15 74,623,398 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCGTAGGTAGCCATGGGAC -3'
(R):5'- GACTGGGCTATCCAAGGTTC -3'

Sequencing Primer
(F):5'- TAGCCATGGGACCTCGTG -3'
(R):5'- ACTGGGCTATCCAAGGTTCTGATC -3'
Posted On 2018-05-04