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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |