Incidental Mutation 'R5028:Nlgn2'
| ID |
391521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn2
|
| Ensembl Gene |
ENSMUSG00000051790 |
| Gene Name |
neuroligin 2 |
| Synonyms |
NLG2, NL2 |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69713949-69728610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69718563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 339
(D339G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056484]
[ENSMUST00000108634]
|
| AlphaFold |
Q69ZK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056484
AA Change: D339G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: D339G
| 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: D339G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: D339G
| 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
|
| Meta Mutation Damage Score |
0.1875 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
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 |
|
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'- CCTAAAGCATTCTGTGAAACCCTG -3'
(R):5'- ACTGTTCCAGAAGGCCATTG -3'
Sequencing Primer
(F):5'- ATGTGGTATGGTGACCTCCACATAAG -3'
(R):5'- GCCATTGCTCAAAGTGGTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation