Incidental Mutation 'R5150:Nlgn2'
ID |
395312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlgn2
|
Ensembl Gene |
ENSMUSG00000051790 |
Gene Name |
neuroligin 2 |
Synonyms |
NLG2, NL2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5150 (G1)
|
Quality Score |
89 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69713949-69728610 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 69716216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 775
(R775H)
|
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 damaging
Transcript: ENSMUST00000056484
AA Change: R775H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053097 Gene: ENSMUSG00000051790 AA Change: R775H
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 damaging
Transcript: ENSMUST00000108634
AA Change: R775H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104274 Gene: ENSMUSG00000051790 AA Change: R775H
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
93% (57/61) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
probably null |
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 |
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'- AGTCTGACAAATCCACGGG -3'
(R):5'- TCTATTACAAGCGGGACCGG -3'
Sequencing Primer
(F):5'- AAAGCCCGGTGCCAAGTC -3'
(R):5'- TTAGCCCACCAGGAGGCTC -3'
|
Posted On |
2016-06-21 |