Incidental Mutation 'R7886:Nlgn1'
| ID |
609046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn1
|
| Ensembl Gene |
ENSMUSG00000063887 |
| Gene Name |
neuroligin 1 |
| Synonyms |
NL1, Nlg1, 6330415N05Rik |
| MMRRC Submission |
045938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25490071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 552
(D552G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075054]
[ENSMUST00000108308]
[ENSMUST00000191835]
[ENSMUST00000193603]
|
| AlphaFold |
Q99K10 |
| PDB Structure |
Crystal structure of a synaptic adhesion complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075054
AA Change: D552G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: D552G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
29 |
626 |
4.8e-199 |
PFAM |
|
Pfam:Abhydrolase_3
|
196 |
302 |
2.2e-8 |
PFAM |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108308
AA Change: D523G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: D523G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
29 |
597 |
2.5e-190 |
PFAM |
|
Pfam:Abhydrolase_3
|
176 |
306 |
4.3e-8 |
PFAM |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191835
AA Change: D523G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: D523G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
29 |
597 |
2.5e-190 |
PFAM |
|
Pfam:Abhydrolase_3
|
176 |
306 |
4.3e-8 |
PFAM |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193603
AA Change: D552G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: D552G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
29 |
626 |
1.2e-186 |
PFAM |
|
Pfam:Abhydrolase_3
|
196 |
309 |
3.7e-8 |
PFAM |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
839 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (53/53) |
| 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 knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
G |
6: 92,811,437 (GRCm39) |
I130S |
unknown |
Het |
| Ano5 |
A |
G |
7: 51,220,141 (GRCm39) |
H427R |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,989,532 (GRCm39) |
V182E |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,002,923 (GRCm39) |
Y147H |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,289 (GRCm39) |
S349G |
possibly damaging |
Het |
| Ccdc51 |
G |
T |
9: 108,920,655 (GRCm39) |
A181S |
probably damaging |
Het |
| Dcc |
G |
A |
18: 72,087,939 (GRCm39) |
Q100* |
probably null |
Het |
| Dchs2 |
A |
T |
3: 83,212,392 (GRCm39) |
I2064F |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,706 (GRCm39) |
V217I |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,492,629 (GRCm39) |
F31I |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,730,934 (GRCm39) |
R825H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Fdx2 |
A |
T |
9: 20,984,623 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,934,643 (GRCm39) |
D106G |
possibly damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,229 (GRCm39) |
R446W |
probably damaging |
Het |
| Get1 |
T |
A |
16: 95,946,768 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,572 (GRCm39) |
E362G |
|
Het |
| Hmcn1 |
A |
T |
1: 150,533,221 (GRCm39) |
I3022N |
possibly damaging |
Het |
| Ifna2 |
C |
A |
4: 88,601,506 (GRCm39) |
V171F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,235,748 (GRCm39) |
N1478D |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,077,045 (GRCm39) |
D282E |
probably damaging |
Het |
| Klhdc2 |
G |
A |
12: 69,351,406 (GRCm39) |
|
probably null |
Het |
| Macrod2 |
G |
A |
2: 141,566,565 (GRCm39) |
G188S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,128 (GRCm39) |
F186L |
possibly damaging |
Het |
| Mettl21a |
T |
C |
1: 64,654,343 (GRCm39) |
E58G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,497,278 (GRCm39) |
C6625S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,382,689 (GRCm39) |
S7T |
probably benign |
Het |
| Nfs1 |
T |
A |
2: 155,983,981 (GRCm39) |
D132V |
unknown |
Het |
| Numa1 |
C |
T |
7: 101,663,072 (GRCm39) |
T2066I |
probably benign |
Het |
| Or10k2 |
T |
C |
8: 84,268,576 (GRCm39) |
S268P |
possibly damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,880 (GRCm39) |
V311L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,021 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,657 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,202 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
T |
2: 76,121,547 (GRCm39) |
V345I |
probably benign |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,735 (GRCm39) |
S98P |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,452,641 (GRCm39) |
Q643* |
probably null |
Het |
| Pold2 |
T |
C |
11: 5,822,714 (GRCm39) |
Y402C |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,848 (GRCm39) |
T770A |
unknown |
Het |
| Pou4f1 |
A |
T |
14: 104,704,228 (GRCm39) |
V68E |
probably damaging |
Het |
| Ppfia1 |
G |
T |
7: 144,073,020 (GRCm39) |
Q265K |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,253,130 (GRCm39) |
|
probably null |
Het |
| Rdh19 |
A |
G |
10: 127,686,169 (GRCm39) |
T94A |
probably benign |
Het |
| Scgb1b12 |
A |
G |
7: 32,033,922 (GRCm39) |
T61A |
probably damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,366 (GRCm39) |
A337T |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,746 (GRCm39) |
E381G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,720,288 (GRCm39) |
I1304V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,193,638 (GRCm39) |
G54C |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,659 (GRCm39) |
Q905L |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,490 (GRCm39) |
N136K |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,108,733 (GRCm39) |
E138K |
probably benign |
Het |
| Zbed3 |
A |
G |
13: 95,472,633 (GRCm39) |
D19G |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,439,868 (GRCm39) |
K184R |
possibly damaging |
Het |
|
| Other mutations in Nlgn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Nlgn1
|
APN |
3 |
25,490,654 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00543:Nlgn1
|
APN |
3 |
25,487,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Nlgn1
|
APN |
3 |
25,966,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01533:Nlgn1
|
APN |
3 |
25,490,527 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02146:Nlgn1
|
APN |
3 |
25,966,846 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02616:Nlgn1
|
APN |
3 |
25,488,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03342:Nlgn1
|
APN |
3 |
26,187,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ligation
|
UTSW |
3 |
25,490,199 (GRCm39) |
nonsense |
probably null |
|
|
G1citation:Nlgn1
|
UTSW |
3 |
26,187,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0018:Nlgn1
|
UTSW |
3 |
25,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Nlgn1
|
UTSW |
3 |
25,490,006 (GRCm39) |
splice site |
probably benign |
|
|
R0010:Nlgn1
|
UTSW |
3 |
25,490,006 (GRCm39) |
splice site |
probably benign |
|
|
R0123:Nlgn1
|
UTSW |
3 |
25,490,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Nlgn1
|
UTSW |
3 |
25,490,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Nlgn1
|
UTSW |
3 |
26,187,625 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0798:Nlgn1
|
UTSW |
3 |
25,488,410 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Nlgn1
|
UTSW |
3 |
25,966,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1116:Nlgn1
|
UTSW |
3 |
25,488,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1289:Nlgn1
|
UTSW |
3 |
25,488,400 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1522:Nlgn1
|
UTSW |
3 |
25,490,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Nlgn1
|
UTSW |
3 |
25,966,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Nlgn1
|
UTSW |
3 |
25,490,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Nlgn1
|
UTSW |
3 |
26,187,671 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1856:Nlgn1
|
UTSW |
3 |
25,494,201 (GRCm39) |
nonsense |
probably null |
|
|
R1935:Nlgn1
|
UTSW |
3 |
26,385,939 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1936:Nlgn1
|
UTSW |
3 |
26,385,939 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1952:Nlgn1
|
UTSW |
3 |
25,490,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Nlgn1
|
UTSW |
3 |
25,490,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Nlgn1
|
UTSW |
3 |
25,488,034 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2114:Nlgn1
|
UTSW |
3 |
26,187,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Nlgn1
|
UTSW |
3 |
26,187,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Nlgn1
|
UTSW |
3 |
25,487,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2994:Nlgn1
|
UTSW |
3 |
25,490,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Nlgn1
|
UTSW |
3 |
25,487,860 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4190:Nlgn1
|
UTSW |
3 |
25,488,062 (GRCm39) |
missense |
probably benign |
|
|
R4196:Nlgn1
|
UTSW |
3 |
25,488,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Nlgn1
|
UTSW |
3 |
25,490,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4654:Nlgn1
|
UTSW |
3 |
26,187,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4757:Nlgn1
|
UTSW |
3 |
25,490,507 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4757:Nlgn1
|
UTSW |
3 |
25,490,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Nlgn1
|
UTSW |
3 |
25,490,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4884:Nlgn1
|
UTSW |
3 |
25,966,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Nlgn1
|
UTSW |
3 |
25,974,401 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5119:Nlgn1
|
UTSW |
3 |
25,487,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5842:Nlgn1
|
UTSW |
3 |
26,187,892 (GRCm39) |
splice site |
probably null |
|
|
R6218:Nlgn1
|
UTSW |
3 |
25,490,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Nlgn1
|
UTSW |
3 |
25,487,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6500:Nlgn1
|
UTSW |
3 |
25,488,094 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6822:Nlgn1
|
UTSW |
3 |
26,187,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6846:Nlgn1
|
UTSW |
3 |
25,490,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Nlgn1
|
UTSW |
3 |
25,490,199 (GRCm39) |
nonsense |
probably null |
|
|
R7147:Nlgn1
|
UTSW |
3 |
26,187,509 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7754:Nlgn1
|
UTSW |
3 |
25,488,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Nlgn1
|
UTSW |
3 |
25,490,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Nlgn1
|
UTSW |
3 |
25,487,816 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8304:Nlgn1
|
UTSW |
3 |
26,187,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Nlgn1
|
UTSW |
3 |
25,490,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8503:Nlgn1
|
UTSW |
3 |
26,187,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9035:Nlgn1
|
UTSW |
3 |
25,488,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Nlgn1
|
UTSW |
3 |
25,488,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Nlgn1
|
UTSW |
3 |
25,966,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9268:Nlgn1
|
UTSW |
3 |
25,490,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9368:Nlgn1
|
UTSW |
3 |
25,488,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9492:Nlgn1
|
UTSW |
3 |
25,488,480 (GRCm39) |
nonsense |
probably null |
|
|
R9596:Nlgn1
|
UTSW |
3 |
25,488,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Nlgn1
|
UTSW |
3 |
25,488,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Nlgn1
|
UTSW |
3 |
25,494,035 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Nlgn1
|
UTSW |
3 |
25,490,768 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGAATGTTCAAAGCACTGGTTC -3'
(R):5'- GCAGACCTTCACTCGAACTTTGG -3'
Sequencing Primer
(F):5'- ACTGGTTCTATCCCCAATATCAGAG -3'
(R):5'- CGAACTTTGGCTCACCTACATAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation