Incidental Mutation 'IGL02649:Nlgn2'
ID 302083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlgn2
Ensembl Gene ENSMUSG00000051790
Gene Name neuroligin 2
Synonyms NLG2, NL2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02649
Quality Score
Status
Chromosome 11
Chromosomal Location 69713949-69728610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69716628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 638 (T638A)
Ref Sequence ENSEMBL: ENSMUSP00000104274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056484] [ENSMUST00000108634]
AlphaFold Q69ZK9
Predicted Effect probably benign
Transcript: ENSMUST00000045771
SMART Domains Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

DomainStartEndE-ValueType
Pfam:Spem1 12 196 3.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056484
AA Change: T638A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: T638A

DomainStartEndE-ValueType
Pfam:COesterase 31 601 1.6e-199 PFAM
Pfam:Abhydrolase_3 180 372 4.8e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108634
AA Change: T638A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: T638A

DomainStartEndE-ValueType
Pfam:COesterase 30 601 2e-186 PFAM
Pfam:Abhydrolase_3 180 327 3.3e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139893
SMART Domains Protein: ENSMUSP00000120428
Gene: ENSMUSG00000051790

DomainStartEndE-ValueType
Pfam:COesterase 1 262 9.3e-120 PFAM
Pfam:Abhydrolase_3 104 250 2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140477
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,486,472 (GRCm39) I4F probably benign Het
Adamts17 T G 7: 66,499,626 (GRCm39) probably benign Het
Adcy1 A T 11: 7,117,156 (GRCm39) M1008L probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrnl1 T G 19: 57,638,873 (GRCm39) probably benign Het
Brd3 T A 2: 27,344,362 (GRCm39) E456V probably damaging Het
Cabin1 A T 10: 75,573,252 (GRCm39) L712H probably damaging Het
Ccna1 T A 3: 54,961,807 (GRCm39) T38S probably damaging Het
Chadl T A 15: 81,580,059 (GRCm39) I59F probably benign Het
Chmp3 T C 6: 71,529,417 (GRCm39) M27T possibly damaging Het
Clcn1 C T 6: 42,275,763 (GRCm39) T295I probably damaging Het
Col6a6 A G 9: 105,604,369 (GRCm39) probably null Het
Dennd2a T A 6: 39,447,290 (GRCm39) H776L probably benign Het
Dimt1 G A 13: 107,085,219 (GRCm39) R55K probably benign Het
Dlg5 T A 14: 24,196,319 (GRCm39) D1626V probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Hectd4 T C 5: 121,487,465 (GRCm39) S3487P possibly damaging Het
Hivep1 T C 13: 42,310,787 (GRCm39) V1009A possibly damaging Het
Ifna12 A T 4: 88,521,091 (GRCm39) V152E probably damaging Het
Igf2r A T 17: 12,930,974 (GRCm39) C903S possibly damaging Het
Ipo9 T C 1: 135,313,672 (GRCm39) D1002G possibly damaging Het
Isyna1 T C 8: 71,048,904 (GRCm39) S328P probably damaging Het
Itprid2 T C 2: 79,472,303 (GRCm39) probably benign Het
Lamc1 G A 1: 153,122,788 (GRCm39) T764I possibly damaging Het
Lta4h T C 10: 93,308,831 (GRCm39) V377A probably benign Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Myo3a A T 2: 22,328,418 (GRCm39) L329F probably benign Het
Oasl2 A G 5: 115,035,753 (GRCm39) T10A probably damaging Het
Or14j8 A T 17: 38,263,864 (GRCm39) F17Y probably damaging Het
Or5k1 T A 16: 58,617,713 (GRCm39) R165S probably damaging Het
Pde10a A T 17: 9,172,604 (GRCm39) N296I probably damaging Het
Plb1 A G 5: 32,519,912 (GRCm39) I1385M probably benign Het
Pld1 T C 3: 28,141,378 (GRCm39) V647A probably damaging Het
Pnp T C 14: 51,185,303 (GRCm39) probably benign Het
Ppl A T 16: 4,905,327 (GRCm39) I1656K probably damaging Het
Rimbp3 G T 16: 17,027,472 (GRCm39) E299* probably null Het
Sbsn C A 7: 30,452,683 (GRCm39) A566D probably damaging Het
Sh3rf1 T A 8: 61,816,225 (GRCm39) M494K probably damaging Het
Slc2a2 T A 3: 28,772,885 (GRCm39) V226E probably damaging Het
Smarca2 T A 19: 26,617,986 (GRCm39) I339N possibly damaging Het
Tenm2 G T 11: 36,097,912 (GRCm39) S445R possibly damaging Het
Tlcd5 C A 9: 43,022,783 (GRCm39) K190N probably benign Het
Tnip2 A T 5: 34,671,075 (GRCm39) L56Q probably damaging Het
Trpv1 C T 11: 73,141,612 (GRCm39) S485F probably damaging Het
Vmn2r23 T C 6: 123,681,437 (GRCm39) M115T probably benign Het
Zbtb38 G A 9: 96,568,672 (GRCm39) T804I probably damaging Het
Zfhx3 T C 8: 109,520,167 (GRCm39) S430P possibly damaging Het
Other mutations in Nlgn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Nlgn2 APN 11 69,716,675 (GRCm39) missense possibly damaging 0.78
IGL02887:Nlgn2 APN 11 69,718,080 (GRCm39) missense probably benign 0.24
IGL02904:Nlgn2 APN 11 69,716,666 (GRCm39) missense possibly damaging 0.91
P0040:Nlgn2 UTSW 11 69,716,556 (GRCm39) missense probably benign 0.01
R0800:Nlgn2 UTSW 11 69,716,823 (GRCm39) missense possibly damaging 0.92
R1901:Nlgn2 UTSW 11 69,716,726 (GRCm39) missense probably damaging 1.00
R1960:Nlgn2 UTSW 11 69,718,136 (GRCm39) missense probably damaging 1.00
R1997:Nlgn2 UTSW 11 69,718,876 (GRCm39) missense probably damaging 1.00
R2020:Nlgn2 UTSW 11 69,719,267 (GRCm39) missense probably damaging 1.00
R2426:Nlgn2 UTSW 11 69,717,912 (GRCm39) missense probably damaging 1.00
R3768:Nlgn2 UTSW 11 69,719,230 (GRCm39) missense possibly damaging 0.95
R4584:Nlgn2 UTSW 11 69,725,104 (GRCm39) missense possibly damaging 0.48
R4609:Nlgn2 UTSW 11 69,724,912 (GRCm39) missense probably damaging 0.99
R5028:Nlgn2 UTSW 11 69,718,563 (GRCm39) missense probably benign 0.11
R5141:Nlgn2 UTSW 11 69,716,216 (GRCm39) missense probably damaging 1.00
R5149:Nlgn2 UTSW 11 69,716,216 (GRCm39) missense probably damaging 1.00
R5150:Nlgn2 UTSW 11 69,716,216 (GRCm39) missense probably damaging 1.00
R5458:Nlgn2 UTSW 11 69,718,726 (GRCm39) missense possibly damaging 0.87
R5930:Nlgn2 UTSW 11 69,724,975 (GRCm39) missense probably damaging 1.00
R6823:Nlgn2 UTSW 11 69,716,750 (GRCm39) missense probably damaging 1.00
R7096:Nlgn2 UTSW 11 69,716,516 (GRCm39) missense probably damaging 1.00
R7310:Nlgn2 UTSW 11 69,721,409 (GRCm39) missense possibly damaging 0.64
R7318:Nlgn2 UTSW 11 69,716,795 (GRCm39) missense probably damaging 1.00
R7643:Nlgn2 UTSW 11 69,718,711 (GRCm39) missense probably damaging 1.00
R7912:Nlgn2 UTSW 11 69,716,760 (GRCm39) missense probably damaging 1.00
R8679:Nlgn2 UTSW 11 69,716,309 (GRCm39) missense probably benign 0.00
R8870:Nlgn2 UTSW 11 69,716,297 (GRCm39) missense possibly damaging 0.78
R8932:Nlgn2 UTSW 11 69,718,994 (GRCm39) missense probably damaging 1.00
R9232:Nlgn2 UTSW 11 69,718,855 (GRCm39) missense probably damaging 1.00
R9402:Nlgn2 UTSW 11 69,718,933 (GRCm39) missense
Z1186:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1187:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1188:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1189:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1190:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1191:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Z1192:Nlgn2 UTSW 11 69,719,220 (GRCm39) missense possibly damaging 0.57
Posted On 2015-04-16