Incidental Mutation 'R5458:Nlgn2'
ID |
432889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlgn2
|
Ensembl Gene |
ENSMUSG00000051790 |
Gene Name |
neuroligin 2 |
Synonyms |
NLG2, NL2 |
MMRRC Submission |
043021-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5458 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69713949-69728610 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 69718726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 285
(Q285K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056484]
[ENSMUST00000108634]
|
AlphaFold |
Q69ZK9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056484
AA Change: Q285K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053097 Gene: ENSMUSG00000051790 AA Change: Q285K
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 |
possibly damaging
Transcript: ENSMUST00000108634
AA Change: Q285K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104274 Gene: ENSMUSG00000051790 AA Change: Q285K
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 |
unknown
Transcript: ENSMUST00000139893
AA Change: Q208K
|
SMART Domains |
Protein: ENSMUSP00000120428 Gene: ENSMUSG00000051790 AA Change: Q208K
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
|
Meta Mutation Damage Score |
0.1438 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
A |
G |
6: 125,027,013 (GRCm39) |
|
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,282,662 (GRCm39) |
D589G |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,236,049 (GRCm39) |
L208Q |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,325,636 (GRCm39) |
R512K |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,781,538 (GRCm39) |
S2197P |
probably benign |
Het |
Ankrd27 |
A |
G |
7: 35,291,236 (GRCm39) |
N11D |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,086,436 (GRCm39) |
V230A |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,291,924 (GRCm39) |
Y709* |
probably null |
Het |
Atp8b2 |
T |
C |
3: 89,853,329 (GRCm39) |
N748D |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,187,346 (GRCm39) |
V684A |
probably damaging |
Het |
Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
Bcr |
T |
C |
10: 74,990,792 (GRCm39) |
V766A |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,408,111 (GRCm39) |
N1404S |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,508 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 15,958,811 (GRCm39) |
D621G |
probably damaging |
Het |
Chek1 |
A |
G |
9: 36,625,725 (GRCm39) |
S307P |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,103,155 (GRCm39) |
M1345T |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,063,168 (GRCm39) |
T2697S |
probably damaging |
Het |
Ephb4 |
T |
C |
5: 137,368,114 (GRCm39) |
V753A |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,466,090 (GRCm39) |
Y1427H |
probably damaging |
Het |
Fggy |
A |
G |
4: 95,814,980 (GRCm39) |
Q445R |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,726 (GRCm39) |
S431G |
probably benign |
Het |
Gm5965 |
A |
T |
16: 88,575,395 (GRCm39) |
R189S |
probably benign |
Het |
Gnas |
A |
G |
2: 174,140,124 (GRCm39) |
I98V |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,242,910 (GRCm39) |
N1086D |
possibly damaging |
Het |
Lclat1 |
T |
C |
17: 73,546,914 (GRCm39) |
L277P |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
Myo3a |
T |
C |
2: 22,250,361 (GRCm39) |
I76T |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,258,201 (GRCm39) |
A510E |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pax5 |
T |
C |
4: 44,679,526 (GRCm39) |
D172G |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,340,611 (GRCm39) |
V1115D |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,016,230 (GRCm39) |
S964G |
probably benign |
Het |
Phip |
G |
T |
9: 82,808,553 (GRCm39) |
P474Q |
probably benign |
Het |
Pop5 |
C |
T |
5: 115,378,496 (GRCm39) |
|
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,913,933 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
C |
T |
12: 79,235,279 (GRCm39) |
A106T |
probably benign |
Het |
Rin3 |
A |
G |
12: 102,339,975 (GRCm39) |
T642A |
probably damaging |
Het |
Scmh1 |
C |
T |
4: 120,362,478 (GRCm39) |
|
probably benign |
Het |
Skint2 |
A |
G |
4: 112,481,377 (GRCm39) |
H80R |
possibly damaging |
Het |
Spata16 |
A |
T |
3: 26,831,686 (GRCm39) |
N265I |
probably damaging |
Het |
Srpk1 |
T |
C |
17: 28,818,446 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
T |
C |
6: 42,663,476 (GRCm39) |
T135A |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,796,389 (GRCm39) |
V381A |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,237,496 (GRCm39) |
I184K |
possibly damaging |
Het |
Unc13a |
C |
T |
8: 72,116,889 (GRCm39) |
V62M |
probably damaging |
Het |
Vrk2 |
A |
G |
11: 26,448,919 (GRCm39) |
V225A |
probably damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,879 (GRCm39) |
P171L |
probably damaging |
Het |
Wsb1 |
T |
C |
11: 79,139,262 (GRCm39) |
T75A |
probably 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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACATCCTGGTCCACTAGC -3'
(R):5'- TGAAAACATTGCCCACTTTGG -3'
Sequencing Primer
(F):5'- ACTAGCTCCCGGGAAGACTTC -3'
(R):5'- AAACATTGCCCACTTTGGAGGTG -3'
|
Posted On |
2016-10-06 |