Incidental Mutation 'R1550:Nlgn1'
| ID |
169828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn1
|
| Ensembl Gene |
ENSMUSG00000063887 |
| Gene Name |
neuroligin 1 |
| Synonyms |
NL1, Nlg1, 6330415N05Rik |
| MMRRC Submission |
039589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1550 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25966808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 215
(L215P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075054]
[ENSMUST00000108308]
[ENSMUST00000191835]
[ENSMUST00000193603]
|
| AlphaFold |
Q99K10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075054
AA Change: L235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: L235P
| 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: L215P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: L215P
| 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: L215P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: L215P
| 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: L235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: L235P
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.2%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,654,668 (GRCm39) |
V551A |
probably benign |
Het |
| Acss1 |
A |
T |
2: 150,484,715 (GRCm39) |
L176Q |
probably damaging |
Het |
| Aldh7a1 |
A |
G |
18: 56,683,454 (GRCm39) |
I117T |
possibly damaging |
Het |
| Arf5 |
C |
T |
6: 28,426,152 (GRCm39) |
R180C |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,576 (GRCm39) |
Y39* |
probably null |
Het |
| Arrdc1 |
A |
G |
2: 24,816,351 (GRCm39) |
L206P |
probably damaging |
Het |
| Cby3 |
A |
T |
11: 50,250,313 (GRCm39) |
Y173F |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,436,634 (GRCm39) |
C497S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,442 (GRCm39) |
I226V |
probably benign |
Het |
| Ddit4l |
T |
A |
3: 137,330,036 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,445,215 (GRCm39) |
T405I |
probably benign |
Het |
| Dhx40 |
A |
T |
11: 86,667,565 (GRCm39) |
|
probably null |
Het |
| Dlgap2 |
A |
G |
8: 14,872,499 (GRCm39) |
D659G |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,016,681 (GRCm39) |
E586G |
probably benign |
Het |
| Fam161a |
A |
G |
11: 22,970,470 (GRCm39) |
Q216R |
possibly damaging |
Het |
| Fbxw24 |
G |
T |
9: 109,436,112 (GRCm39) |
R307S |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,312,591 (GRCm39) |
A325S |
probably damaging |
Het |
| Gli1 |
A |
T |
10: 127,174,385 (GRCm39) |
F2Y |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,938,027 (GRCm39) |
V269A |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,195,143 (GRCm39) |
V292A |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,555,923 (GRCm39) |
V1001E |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,785,406 (GRCm39) |
I1552N |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,788 (GRCm39) |
T343A |
probably benign |
Het |
| Itk |
G |
T |
11: 46,280,153 (GRCm39) |
R29S |
probably damaging |
Het |
| Ivns1abp |
G |
T |
1: 151,237,242 (GRCm39) |
G469C |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,511,598 (GRCm39) |
N529Y |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,019,120 (GRCm39) |
L829P |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,033 (GRCm39) |
Y339F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,333,005 (GRCm39) |
V1504A |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,833,615 (GRCm39) |
D85G |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,977,136 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mgll |
C |
A |
6: 88,790,871 (GRCm39) |
H164N |
probably benign |
Het |
| Mtmr4 |
A |
T |
11: 87,504,342 (GRCm39) |
D1097V |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,536,241 (GRCm39) |
K571E |
probably damaging |
Het |
| Nfat5 |
A |
T |
8: 108,097,205 (GRCm39) |
N1527Y |
probably damaging |
Het |
| Or6b9 |
T |
A |
7: 106,555,235 (GRCm39) |
I303L |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,627,020 (GRCm39) |
S1173G |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,472,468 (GRCm39) |
V568E |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,383,313 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,427 (GRCm39) |
L31P |
probably damaging |
Het |
| Sema5a |
G |
A |
15: 32,618,995 (GRCm39) |
A508T |
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,418 (GRCm39) |
I283T |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,901,807 (GRCm39) |
L620Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,082,628 (GRCm39) |
C756S |
probably benign |
Het |
| Sirpa |
A |
T |
2: 129,471,961 (GRCm39) |
I463F |
probably damaging |
Het |
| Slc13a2 |
G |
T |
11: 78,293,990 (GRCm39) |
N257K |
probably damaging |
Het |
| Slc4a5 |
C |
A |
6: 83,248,039 (GRCm39) |
T530N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,714,790 (GRCm39) |
F125L |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,175,280 (GRCm39) |
Q1356K |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,363,010 (GRCm39) |
S856T |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,279 (GRCm39) |
T1207I |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,287,525 (GRCm39) |
Y173C |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,110,754 (GRCm39) |
I718F |
probably damaging |
Het |
| Tnfrsf11b |
A |
G |
15: 54,117,454 (GRCm39) |
V267A |
possibly damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,790,753 (GRCm39) |
N446Y |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,915,083 (GRCm39) |
C521Y |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,282,260 (GRCm39) |
D394G |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,692,549 (GRCm39) |
M142K |
possibly damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,282 (GRCm39) |
D91G |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,468 (GRCm39) |
Y322* |
probably null |
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 |
|
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'- CCATCAGTGATCAGTGCCTTCATTACC -3'
(R):5'- TCATGCCCTCCTGTTCTTAAAATGCAA -3'
Sequencing Primer
(F):5'- GATCAGTGCCTTCATTACCTTTCTG -3'
(R):5'- GGGGATAACTATAATTGCCAACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation