Incidental Mutation 'IGL01327:Nlgn3'
ID74327
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 #IGL01327
Quality Score
Status
ChromosomeX
Chromosomal Location101299168-101325963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101318622 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 399 (V399A)
Ref Sequence ENSEMBL: ENSMUSP00000113863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065858] [ENSMUST00000118111] [ENSMUST00000130555] [ENSMUST00000151528]
Predicted Effect probably benign
Transcript: ENSMUST00000065858
AA Change: V513A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066304
Gene: ENSMUSG00000031302
AA Change: V513A

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: V399A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113863
Gene: ENSMUSG00000031302
AA Change: V399A

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
AA Change: V493A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122213
Gene: ENSMUSG00000031302
AA Change: V493A

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: V533A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123283
Gene: ENSMUSG00000031302
AA Change: V533A

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 Y209C probably benign Het
Adcy7 T G 8: 88,318,790 probably benign Het
Aldh1a2 T A 9: 71,285,966 F486I possibly damaging Het
Alox12 T A 11: 70,254,549 H66L probably benign Het
Apoh T G 11: 108,397,361 Y102D probably damaging Het
Arl9 T C 5: 77,006,554 V43A possibly damaging Het
Atf6 A G 1: 170,788,606 probably null Het
Atp4a T A 7: 30,713,250 I127N possibly damaging Het
AY358078 T A 14: 51,805,709 probably benign Het
Baat T G 4: 49,490,338 K249Q probably damaging Het
Brat1 C T 5: 140,718,208 Q739* probably null Het
C8g A G 2: 25,499,077 F165L probably damaging Het
Cel T G 2: 28,557,955 D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 T803K unknown Het
Cpxm1 A G 2: 130,396,357 L95P probably benign Het
Ctsr A G 13: 61,162,675 probably benign Het
Cyth1 A G 11: 118,193,613 probably null Het
Dync1h1 A T 12: 110,616,692 probably benign Het
Ezh1 C T 11: 101,203,436 C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 W38R probably benign Het
Gm9611 T C 14: 42,294,665 T39A possibly damaging Het
Gnpat T A 8: 124,878,633 L287H probably damaging Het
Golm1 G T 13: 59,645,144 N182K possibly damaging Het
Hdac6 T C X: 7,931,774 M899V probably benign Het
Hsf3 T A X: 96,314,972 M272L probably benign Het
Kif19a C T 11: 114,781,799 probably benign Het
Lcn2 T G 2: 32,386,018 Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 S180R probably damaging Het
Ly6h A G 15: 75,565,099 probably benign Het
Macf1 T C 4: 123,509,912 N705D probably benign Het
Mst1r C T 9: 107,907,844 P234S probably benign Het
Msto1 T A 3: 88,910,632 probably null Het
Myo5a T A 9: 75,187,538 probably benign Het
Nipa1 T C 7: 55,979,661 I235V probably benign Het
Olfr1367 A G 13: 21,347,207 N93S probably benign Het
Olfr412 T A 11: 74,364,912 M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 S289P probably benign Het
Ppl T C 16: 5,087,644 N1596D probably benign Het
Psmb6 T A 11: 70,526,586 S114R possibly damaging Het
Pum1 C A 4: 130,730,543 Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 I75V probably benign Het
Slc24a3 T A 2: 145,602,558 I284N probably benign Het
Slc44a3 C T 3: 121,527,193 G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 D736A probably benign Het
Stra6 A G 9: 58,152,571 D605G probably benign Het
Tas2r126 T A 6: 42,434,750 H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 G14R probably benign Het
Ticrr C T 7: 79,694,461 T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 N518K probably benign Het
Trpm4 C A 7: 45,315,073 W533C probably damaging Het
Tsen54 T C 11: 115,821,712 Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 T219M probably damaging Het
Usp19 T C 9: 108,498,961 L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 Y43F probably benign Het
Vsig1 T A X: 140,937,680 V283E possibly damaging Het
Other mutations in Nlgn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Nlgn3 APN X 101320092 missense probably benign 0.28
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
Z1176:Nlgn3 UTSW X 101317982 missense probably benign 0.30
Z1176:Nlgn3 UTSW X 101319877 missense probably damaging 1.00
Posted On2013-10-07