Mutagenetix > Incidental Mutation

Incidental Mutation 'P0040:Nlgn2'

8029

Institutional Source

Beutler Lab

Gene Symbol

Nlgn2

Ensembl Gene

ENSMUSG00000051790

Gene Name

neuroligin 2

Synonyms

NLG2, NL2

MMRRC Submission

038288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69713949-69728610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69716556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 662 (A662T)

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

probably benign
Transcript: ENSMUST00000056484
AA Change: A662T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: A662T

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

probably benign
Transcript: ENSMUST00000108634
AA Change: A662T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: A662T

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

0.0577

Coding Region Coverage

1x: 72.9%
3x: 54.5%
10x: 17.9%
20x: 3.9%

Validation Efficiency

84% (31/37)

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	A	C	15: 74,543,188 (GRCm39)	L345R	probably damaging	Het
Fat2	A	T	11: 55,173,039 (GRCm39)	M2558K	possibly damaging	Het
Gper1	T	C	5: 139,412,243 (GRCm39)	V196A	probably benign	Het
Hars1	A	T	18: 36,906,628 (GRCm39)	I114N	probably damaging	Het
Mov10	C	T	3: 104,711,995 (GRCm39)	V199M	probably damaging	Het
Mttp	T	G	3: 137,818,327 (GRCm39)	D377A	possibly damaging	Het
P3h3	A	G	6: 124,830,099 (GRCm39)	I372T	probably damaging	Het
Plxnb2	T	A	15: 89,047,138 (GRCm39)	S753C	probably damaging	Het
Sphk1	C	T	11: 116,425,891 (GRCm39)		probably benign	Het
Xylt2	C	A	11: 94,559,617 (GRCm39)	V342L	possibly 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
R0800:Nlgn2	UTSW	11	69,716,823 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2012-11-20