Incidental Mutation 'IGL02904:Nlgn2'
ID 363755
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 # IGL02904
Quality Score
Status
Chromosome 11
Chromosomal Location 69713949-69728610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69716666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 625 (Y625C)
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 possibly damaging
Transcript: ENSMUST00000056484
AA Change: Y625C

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: Y625C

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 possibly damaging
Transcript: ENSMUST00000108634
AA Change: Y625C

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: Y625C

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign Het
Other mutations in Nlgn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Nlgn2 APN 11 69,716,675 (GRCm39) missense possibly damaging 0.78
IGL02649:Nlgn2 APN 11 69,716,628 (GRCm39) missense probably benign 0.04
IGL02887:Nlgn2 APN 11 69,718,080 (GRCm39) missense probably benign 0.24
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 2015-12-18