Incidental Mutation 'R3768:Nlgn2'
| ID |
273127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn2
|
| Ensembl Gene |
ENSMUSG00000051790 |
| Gene Name |
neuroligin 2 |
| Synonyms |
NLG2, NL2 |
| MMRRC Submission |
040745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3768 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69713949-69728610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69719230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 207
(V207I)
|
| 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: V207I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: V207I
| 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: V207I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: V207I
| 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: V130I
|
| SMART Domains |
Protein: ENSMUSP00000120428
Gene: ENSMUSG00000051790
AA Change: V130I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,204,217 (GRCm39) |
R353G |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,606,202 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,292,715 (GRCm39) |
Y906C |
probably benign |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,113,893 (GRCm39) |
K160R |
probably damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,281,785 (GRCm39) |
H142L |
probably benign |
Het |
| B3gnt2 |
T |
C |
11: 22,786,765 (GRCm39) |
K141R |
probably damaging |
Het |
| Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
| Cnga4 |
A |
G |
7: 105,056,887 (GRCm39) |
N330S |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Cxcl15 |
A |
C |
5: 90,949,303 (GRCm39) |
D156A |
unknown |
Het |
| D630045J12Rik |
A |
G |
6: 38,119,844 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,510,085 (GRCm39) |
N1581I |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Dscaml1 |
T |
A |
9: 45,643,435 (GRCm39) |
F1285I |
possibly damaging |
Het |
| Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,335,449 (GRCm39) |
D1425N |
probably benign |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
| Ncor2 |
A |
G |
5: 125,105,751 (GRCm39) |
V1613A |
probably damaging |
Het |
| Or10v1 |
G |
A |
19: 11,873,676 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,304 (GRCm39) |
I284T |
probably damaging |
Het |
| Osbpl3 |
G |
A |
6: 50,324,982 (GRCm39) |
P172L |
possibly damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,188,405 (GRCm39) |
V338D |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,466,326 (GRCm39) |
S792R |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,632 (GRCm39) |
F171I |
probably damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
| Tarm1 |
A |
T |
7: 3,546,097 (GRCm39) |
S69T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,153,878 (GRCm39) |
K846R |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,964,844 (GRCm39) |
H358L |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGTGCTGAGAAAACCTAGG -3'
(R):5'- AGTGCTGCTTCTGGTCTGAC -3'
Sequencing Primer
(F):5'- TACTCCCTGGAGGTGTCACAG -3'
(R):5'- GGTCTGACTGTGTCCTTGTCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation