Incidental Mutation 'IGL01128:Nlgn3'
ID53351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlgn3
Ensembl Gene ENSMUSG00000031302
Gene Nameneuroligin 3
SynonymsNL3, A230085M13Rik, HNL3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01128
Quality Score
Status
ChromosomeX
Chromosomal Location101299168-101325963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101320092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 790 (T790S)
Ref Sequence ENSEMBL: ENSMUSP00000123283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065858] [ENSMUST00000118111] [ENSMUST00000130555] [ENSMUST00000151528]
Predicted Effect probably benign
Transcript: ENSMUST00000065858
AA Change: T770S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066304
Gene: ENSMUSG00000031302
AA Change: T770S

DomainStartEndE-ValueType
Pfam:COesterase 16 601 2.3e-194 PFAM
Pfam:Abhydrolase_3 180 342 1.7e-7 PFAM
transmembrane domain 685 707 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113671
Predicted Effect probably benign
Transcript: ENSMUST00000118111
AA Change: T656S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113863
Gene: ENSMUSG00000031302
AA Change: T656S

DomainStartEndE-ValueType
Pfam:COesterase 3 487 3.6e-161 PFAM
Pfam:Abhydrolase_3 66 232 2.4e-7 PFAM
transmembrane domain 571 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130555
SMART Domains Protein: ENSMUSP00000122213
Gene: ENSMUSG00000031302

DomainStartEndE-ValueType
Pfam:COesterase 16 510 4.6e-179 PFAM
Pfam:Abhydrolase_3 160 323 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144860
Predicted Effect probably benign
Transcript: ENSMUST00000151528
AA Change: T790S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123283
Gene: ENSMUSG00000031302
AA Change: T790S

DomainStartEndE-ValueType
Pfam:COesterase 16 621 3.4e-207 PFAM
Pfam:Abhydrolase_3 200 363 1.2e-6 PFAM
transmembrane domain 705 727 N/A INTRINSIC
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 member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice show impaired context and cued conditioning, hyperactivity, altered social behavior, less vocalization, smaller brains, and impaired olfaction. Males carrying a knock-in allele show impaired social interaction, and enhanced spatial learning and inhibitory synaptic transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Nlgn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Nlgn3 APN X 101318622 missense probably benign 0.08
IGL01414:Nlgn3 APN X 101302260 missense probably benign 0.00
R1296:Nlgn3 UTSW X 101308916 splice site probably benign
R1794:Nlgn3 UTSW X 101320033 missense probably benign 0.30
R5144:Nlgn3 UTSW X 101318285 missense probably benign 0.21
R5145:Nlgn3 UTSW X 101318285 missense probably benign 0.21
R5146:Nlgn3 UTSW X 101318285 missense probably benign 0.21
R8677:Nlgn3 UTSW X 101308784 missense probably damaging 1.00
R8678:Nlgn3 UTSW X 101308784 missense probably damaging 1.00
R8684:Nlgn3 UTSW X 101319819 nonsense probably null
R8696:Nlgn3 UTSW X 101308784 missense probably damaging 1.00
Z1176:Nlgn3 UTSW X 101317982 missense probably benign 0.30
Z1176:Nlgn3 UTSW X 101319877 missense probably damaging 1.00
Posted On2013-06-21