Incidental Mutation 'R1116:Nlgn1'
ID |
97234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlgn1
|
Ensembl Gene |
ENSMUSG00000063887 |
Gene Name |
neuroligin 1 |
Synonyms |
NL1, Nlg1, 6330415N05Rik |
MMRRC Submission |
039189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1116 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 25488038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 766
(S766A)
|
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 benign
Transcript: ENSMUST00000075054
AA Change: S766A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000074565 Gene: ENSMUSG00000063887 AA Change: S766A
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 benign
Transcript: ENSMUST00000108308
AA Change: S737A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103944 Gene: ENSMUSG00000063887 AA Change: S737A
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 benign
Transcript: ENSMUST00000191835
AA Change: S737A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142086 Gene: ENSMUSG00000063887 AA Change: S737A
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 benign
Transcript: ENSMUST00000193603
AA Change: S766A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142200 Gene: ENSMUSG00000063887 AA Change: S766A
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 |
|
Meta Mutation Damage Score |
0.0574 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.8%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,506,792 (GRCm39) |
|
probably benign |
Het |
Acacb |
C |
T |
5: 114,349,017 (GRCm39) |
P1028S |
probably damaging |
Het |
Acad10 |
A |
G |
5: 121,768,814 (GRCm39) |
F717S |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,314,172 (GRCm39) |
Y705N |
probably benign |
Het |
Adm |
A |
G |
7: 110,227,501 (GRCm39) |
I6V |
probably benign |
Het |
Agps |
T |
G |
2: 75,692,269 (GRCm39) |
|
probably benign |
Het |
Atr |
C |
T |
9: 95,749,689 (GRCm39) |
Q501* |
probably null |
Het |
Cacna2d3 |
A |
G |
14: 28,786,278 (GRCm39) |
|
probably benign |
Het |
Ccnt1 |
G |
A |
15: 98,442,219 (GRCm39) |
R350W |
probably damaging |
Het |
Cfap74 |
G |
A |
4: 155,518,453 (GRCm39) |
E564K |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,717,554 (GRCm39) |
E1250G |
probably damaging |
Het |
Cryz |
A |
C |
3: 154,327,240 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
C |
A |
14: 31,029,824 (GRCm39) |
V494F |
probably benign |
Het |
Dpep3 |
G |
T |
8: 106,705,461 (GRCm39) |
D96E |
probably damaging |
Het |
Dyrk3 |
G |
A |
1: 131,056,919 (GRCm39) |
A418V |
probably damaging |
Het |
Ehf |
T |
A |
2: 103,097,354 (GRCm39) |
N231I |
probably damaging |
Het |
Eif4g3 |
T |
C |
4: 137,819,086 (GRCm39) |
|
probably null |
Het |
Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam178b |
A |
T |
1: 36,617,669 (GRCm39) |
C82* |
probably null |
Het |
Gm1647 |
C |
T |
3: 69,064,205 (GRCm39) |
Q31* |
probably null |
Het |
Got1 |
T |
A |
19: 43,491,413 (GRCm39) |
K346* |
probably null |
Het |
Grid2ip |
G |
A |
5: 143,368,669 (GRCm39) |
G656D |
possibly damaging |
Het |
Grm2 |
A |
G |
9: 106,525,126 (GRCm39) |
Y530H |
probably damaging |
Het |
Hyou1 |
T |
C |
9: 44,295,978 (GRCm39) |
I381T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Marchf11 |
T |
C |
15: 26,409,381 (GRCm39) |
L360P |
probably damaging |
Het |
Mettl17 |
T |
C |
14: 52,127,055 (GRCm39) |
V281A |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,191,657 (GRCm39) |
D131E |
probably benign |
Het |
Mug1 |
G |
C |
6: 121,847,604 (GRCm39) |
V661L |
probably benign |
Het |
Myo18b |
A |
T |
5: 112,951,145 (GRCm39) |
D1488E |
probably damaging |
Het |
Nkg7 |
G |
A |
7: 43,086,878 (GRCm39) |
V51I |
probably benign |
Het |
Or4d2b |
T |
A |
11: 87,780,234 (GRCm39) |
M163L |
probably benign |
Het |
Otog |
T |
C |
7: 45,950,025 (GRCm39) |
|
probably benign |
Het |
Pax2 |
T |
C |
19: 44,745,863 (GRCm39) |
S11P |
probably damaging |
Het |
Pck2 |
A |
G |
14: 55,782,823 (GRCm39) |
D392G |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,943,966 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
G |
16: 15,600,943 (GRCm39) |
D2868G |
probably benign |
Het |
Prl3d2 |
T |
C |
13: 27,309,985 (GRCm39) |
L149P |
probably damaging |
Het |
Purg |
A |
T |
8: 33,876,773 (GRCm39) |
H137L |
probably benign |
Het |
Slc38a8 |
A |
T |
8: 120,222,872 (GRCm39) |
L150Q |
probably damaging |
Het |
Tifab |
T |
A |
13: 56,324,025 (GRCm39) |
R139S |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,400,442 (GRCm39) |
H353R |
probably benign |
Het |
Ulbp3 |
A |
T |
10: 3,070,180 (GRCm39) |
|
noncoding transcript |
Het |
Upk2 |
A |
G |
9: 44,365,086 (GRCm39) |
|
probably null |
Het |
Zdhhc25 |
G |
A |
15: 88,484,823 (GRCm39) |
V53I |
probably benign |
Het |
Zfp738 |
T |
A |
13: 67,818,362 (GRCm39) |
|
probably null |
Het |
Zfp810 |
C |
T |
9: 22,190,381 (GRCm39) |
E176K |
probably benign |
Het |
Zfp846 |
T |
A |
9: 20,504,559 (GRCm39) |
W140R |
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 |
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 |
R7886:Nlgn1
|
UTSW |
3 |
25,490,071 (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'- AGAGTCTTCCGAGTTGAAAGCCAAG -3'
(R):5'- GCTAAGTGTCACTATCGCAGTGGG -3'
Sequencing Primer
(F):5'- CGAGTTGAAAGCCAAGGAATCTTC -3'
(R):5'- TCTGCTGTTTCTCAACATCTTGG -3'
|
Posted On |
2014-01-05 |