Incidental Mutation 'R0800:Nlgn2'
| ID |
76242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn2
|
| Ensembl Gene |
ENSMUSG00000051790 |
| Gene Name |
neuroligin 2 |
| Synonyms |
NLG2, NL2 |
| MMRRC Submission |
038980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69713949-69728610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69716823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 573
(F573L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045771]
[ENSMUST00000056484]
[ENSMUST00000108634]
|
| AlphaFold |
Q69ZK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045771
|
| SMART Domains |
Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spem1
|
12 |
196 |
3.7e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056484
AA Change: F573L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: F573L
| 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 |
possibly damaging
Transcript: ENSMUST00000108634
AA Change: F573L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: F573L
| 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 |
0.4369 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| 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 conditional ready allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
| Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
| Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
| Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
| Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
| Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
| Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
| Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
| Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
| Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
| Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
| Kprp |
T |
C |
3: 92,732,342 (GRCm39) |
Y236C |
unknown |
Het |
| Mmp12 |
A |
T |
9: 7,357,827 (GRCm39) |
M414L |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
| Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,305,615 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
| Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
| Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
| Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,675,240 (GRCm39) |
N131S |
possibly damaging |
Het |
| Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
probably benign |
Het |
| Zhx2 |
A |
C |
15: 57,686,124 (GRCm39) |
I498L |
probably damaging |
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 |
|
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 |
|
R5028:Nlgn2
|
UTSW |
11 |
69,718,563 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- TATCAGACTCAGGTGGCAGAGTGG -3'
(R):5'- AGAACTGTCTTCCTGGCCTGTAGC -3'
Sequencing Primer
(F):5'- TGTGCCGGAAGTGCCAG -3'
(R):5'- tctctgtctttctctgtgtctc -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation