Incidental Mutation 'R7754:Nlgn1'
| ID |
597425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn1
|
| Ensembl Gene |
ENSMUSG00000063887 |
| Gene Name |
neuroligin 1 |
| Synonyms |
NL1, Nlg1, 6330415N05Rik |
| MMRRC Submission |
045810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25488467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 623
(V623I)
|
| 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: V623I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: V623I
| 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 |
possibly damaging
Transcript: ENSMUST00000108308
AA Change: V594I
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: V594I
| 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 |
possibly damaging
Transcript: ENSMUST00000191835
AA Change: V594I
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: V594I
| 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: V623I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: V623I
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
T |
4: 88,786,496 (GRCm39) |
W41R |
unknown |
Het |
| Aatf |
G |
A |
11: 84,402,335 (GRCm39) |
S117L |
possibly damaging |
Het |
| Abca12 |
C |
A |
1: 71,342,046 (GRCm39) |
V972L |
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,117,162 (GRCm39) |
R495S |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,403,086 (GRCm39) |
H621Q |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,736 (GRCm39) |
L2537P |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,208,509 (GRCm39) |
A597T |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,797,809 (GRCm39) |
I1448N |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,288,863 (GRCm39) |
E1841K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,463,371 (GRCm39) |
P1457Q |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,163,145 (GRCm39) |
K331E |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,310 (GRCm39) |
Q2534K |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,135,188 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
T |
2: 104,087,504 (GRCm39) |
Y491N |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,002,703 (GRCm39) |
I3898V |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,316,277 (GRCm39) |
T346A |
probably benign |
Het |
| Efcab9 |
T |
C |
11: 32,472,941 (GRCm39) |
T169A |
possibly damaging |
Het |
| Fam163a |
A |
T |
1: 155,955,729 (GRCm39) |
I21N |
probably damaging |
Het |
| Fam171a2 |
C |
T |
11: 102,329,389 (GRCm39) |
D457N |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,321,200 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
A |
T |
6: 25,689,049 (GRCm39) |
L16H |
probably damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,330,175 (GRCm39) |
D265G |
probably benign |
Het |
| Idh1 |
G |
T |
1: 65,198,649 (GRCm39) |
A407D |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,521,415 (GRCm39) |
M44T |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,561 (GRCm39) |
M109V |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,879,089 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 95,960,761 (GRCm39) |
D572G |
unknown |
Het |
| Lcn11 |
G |
A |
2: 25,667,830 (GRCm39) |
V73I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,352,704 (GRCm39) |
T1951A |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,860,012 (GRCm39) |
|
probably null |
Het |
| Malrd1 |
G |
A |
2: 15,802,610 (GRCm39) |
|
probably null |
Het |
| Morc2b |
C |
A |
17: 33,356,218 (GRCm39) |
G518V |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
| Neto2 |
C |
A |
8: 86,396,329 (GRCm39) |
L140F |
probably damaging |
Het |
| Optc |
A |
G |
1: 133,834,730 (GRCm39) |
S15P |
possibly damaging |
Het |
| Or1e25 |
C |
T |
11: 73,494,332 (GRCm39) |
Q309* |
probably null |
Het |
| Or1l4b |
A |
G |
2: 37,036,858 (GRCm39) |
I211M |
possibly damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,945 (GRCm39) |
W88L |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,427 (GRCm39) |
M101K |
possibly damaging |
Het |
| Or9k2 |
T |
G |
10: 129,998,698 (GRCm39) |
T166P |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,705,407 (GRCm39) |
V640A |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,023 (GRCm39) |
S5P |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,404,975 (GRCm39) |
E400V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,804 (GRCm39) |
I3856V |
possibly damaging |
Het |
| Pld2 |
G |
A |
11: 70,443,695 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
G |
T |
6: 32,129,807 (GRCm39) |
H1839N |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,140,904 (GRCm39) |
V89A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,655,627 (GRCm39) |
D420G |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,699,529 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
T |
A |
17: 7,544,848 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
T |
3: 93,303,228 (GRCm39) |
D187V |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,203 (GRCm39) |
K248E |
probably damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,155,871 (GRCm39) |
H101L |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,174,974 (GRCm39) |
N305S |
probably benign |
Het |
| Serpina3f |
G |
T |
12: 104,183,565 (GRCm39) |
K142N |
possibly damaging |
Het |
| Ssh1 |
C |
A |
5: 114,104,295 (GRCm39) |
R116L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,693 (GRCm39) |
K405E |
possibly damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,634 (GRCm39) |
A70T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,618,540 (GRCm39) |
I16248N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,655,849 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,195,015 (GRCm39) |
M1L |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,675,191 (GRCm39) |
H366R |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,251,496 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
C |
8: 79,916,958 (GRCm39) |
V511A |
|
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 |
|
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'- TCTGATCCACCGAGAAGGGG -3'
(R):5'- GTTTCCTCACAGATTCTTGCTTG -3'
Sequencing Primer
(F):5'- CACCGAGAAGGGGCTTGG -3'
(R):5'- ACAGATTCTTGCTTGTCTTCCCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation