Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Nlgn2'

711301

Institutional Source

Beutler Lab

Gene Symbol

Nlgn2

Ensembl Gene

ENSMUSG00000051790

Gene Name

neuroligin 2

Synonyms

NL2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69823122-69837784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69828107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 252 (F252S)

Ref Sequence

ENSEMBL: ENSMUSP00000053097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056484] [ENSMUST00000108634]

AlphaFold

Q69ZK9

PDB Structure

Crystal structure of the extracellular domain of neuroligin 2A from mouse [X-RAY DIFFRACTION]

Predicted Effect

SMART Domains

Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: F252S

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 damaging
Transcript: ENSMUST00000108634
AA Change: F252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: F252S

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

SMART Domains

Protein: ENSMUSP00000120428
Gene: ENSMUSG00000051790
AA Change: F175S

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	262	9.3e-120	PFAM
Pfam:Abhydrolase_3	104	250	2e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 conditional ready allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	G	1: 136,227,610	S86R	probably benign	Het
Abca9	T	A	11: 110,158,328	Q218L	probably benign	Het
Atg2b	A	G	12: 105,648,423	F1083S	probably damaging	Het
Bche	T	C	3: 73,701,323	N257D	probably benign	Het
Cfap221	T	A	1: 119,932,821	M692L	probably benign	Het
Cfap46	G	T	7: 139,635,949	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,350,865		probably null	Het
Cyp4f39	T	C	17: 32,491,209		probably null	Het
Daam1	A	G	12: 71,959,830	T674A	probably benign	Het
Elp2	A	T	18: 24,626,163	I526L	probably benign	Het
Exoc4	T	A	6: 33,476,143	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,503	S226L	probably damaging	Het
Fry	G	A	5: 150,433,696	E1903K	possibly damaging	Het
Fry	G	A	5: 150,436,853	R1988K	probably damaging	Het
Gas1	A	T	13: 60,176,202	M206K	probably damaging	Het
Gbp10	T	A	5: 105,233,997	T96S	possibly damaging	Het
Gm14569	G	A	X: 36,430,896	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,332,218	T105A	probably benign	Het
Hoxc13	C	A	15: 102,921,616	C143*	probably null	Het
Htt	T	C	5: 34,848,980	I1411T	probably damaging	Het
Jmy	C	T	13: 93,499,170	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,780,416	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,822,210	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,331,396	T526K		Het
Lrrc29	T	A	8: 105,323,356	Y12F	probably benign	Het
Luzp1	T	A	4: 136,543,182	H905Q	probably damaging	Het
Lyst	T	A	13: 13,637,878	H958Q	probably benign	Het
Magi1	T	C	6: 94,283,297	N9S	probably benign	Het
Mmadhc	A	T	2: 50,281,107	V231E	probably benign	Het
Muc5b	T	A	7: 141,845,414	M364K	unknown	Het
Nae1	A	G	8: 104,528,185		probably null	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nlrp9a	A	T	7: 26,570,605	N874I	possibly damaging	Het
Nodal	T	C	10: 61,423,600	I272T	probably damaging	Het
Olfr1234	C	A	2: 89,362,779	G217*	probably null	Het
Olfr1259	A	T	2: 89,943,940	Y58*	probably null	Het
Olfr599	T	C	7: 103,338,989	S312P	probably benign	Het
Olfr645	G	A	7: 104,084,403	R226*	probably null	Het
Orm1	C	A	4: 63,345,132	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,447,206	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,499,479	Q776*	probably null	Het
Phf14	A	G	6: 11,933,780	R214G	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Pigz	A	G	16: 31,945,369	E415G	probably damaging	Het
Pramel5	T	C	4: 144,271,456	T406A	probably benign	Het
Prtg	A	G	9: 72,911,971	E1082G	probably benign	Het
Rtp3	A	G	9: 110,985,963	C445R	unknown	Het
Scn3b	A	T	9: 40,282,556	E193V	probably damaging	Het
Scn7a	A	T	2: 66,680,112	N1315K	probably damaging	Het
Snx14	C	T	9: 88,407,437	G254D	probably damaging	Het
Srbd1	T	C	17: 86,099,277	D560G	probably benign	Het
Srp72	T	A	5: 76,976,482	L65*	probably null	Het
Steap1	T	A	5: 5,740,664	I95F		Het
Taf3	A	G	2: 9,951,112		probably null	Het
Taok2	T	C	7: 126,870,228	N1143D		Het
Tas2r114	C	T	6: 131,689,931	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 138,209,822	K548E	probably damaging	Het
Tcp1	T	A	17: 12,922,618	L328Q	probably benign	Het
Tns2	A	G	15: 102,113,188	H1096R	probably damaging	Het
Trps1	A	T	15: 50,846,256	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 89,102,861	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,200,962	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Zfp748	A	G	13: 67,545,392	V54A	probably benign	Het

Other mutations in Nlgn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Nlgn2	APN	11	69825849	missense	possibly damaging	0.78
IGL02649:Nlgn2	APN	11	69825802	missense	probably benign	0.04
IGL02887:Nlgn2	APN	11	69827254	missense	probably benign	0.24
IGL02904:Nlgn2	APN	11	69825840	missense	possibly damaging	0.91
P0040:Nlgn2	UTSW	11	69825730	missense	probably benign	0.01
R0800:Nlgn2	UTSW	11	69825997	missense	possibly damaging	0.92
R1901:Nlgn2	UTSW	11	69825900	missense	probably damaging	1.00
R1960:Nlgn2	UTSW	11	69827310	missense	probably damaging	1.00
R1997:Nlgn2	UTSW	11	69828050	missense	probably damaging	1.00
R2020:Nlgn2	UTSW	11	69828441	missense	probably damaging	1.00
R2426:Nlgn2	UTSW	11	69827086	missense	probably damaging	1.00
R3768:Nlgn2	UTSW	11	69828404	missense	possibly damaging	0.95
R4584:Nlgn2	UTSW	11	69834278	missense	possibly damaging	0.48
R4609:Nlgn2	UTSW	11	69834086	missense	probably damaging	0.99
R5028:Nlgn2	UTSW	11	69827737	missense	probably benign	0.11
R5141:Nlgn2	UTSW	11	69825390	missense	probably damaging	1.00
R5149:Nlgn2	UTSW	11	69825390	missense	probably damaging	1.00
R5150:Nlgn2	UTSW	11	69825390	missense	probably damaging	1.00
R5458:Nlgn2	UTSW	11	69827900	missense	possibly damaging	0.87
R5930:Nlgn2	UTSW	11	69834149	missense	probably damaging	1.00
R6823:Nlgn2	UTSW	11	69825924	missense	probably damaging	1.00
R7096:Nlgn2	UTSW	11	69825690	missense	probably damaging	1.00
R7310:Nlgn2	UTSW	11	69830583	missense	possibly damaging	0.64
R7318:Nlgn2	UTSW	11	69825969	missense	probably damaging	1.00
R7643:Nlgn2	UTSW	11	69827885	missense	probably damaging	1.00
R7912:Nlgn2	UTSW	11	69825934	missense	probably damaging	1.00
R8679:Nlgn2	UTSW	11	69825483	missense	probably benign	0.00
R8870:Nlgn2	UTSW	11	69825471	missense	possibly damaging	0.78
R8932:Nlgn2	UTSW	11	69828168	missense	probably damaging	1.00
R9232:Nlgn2	UTSW	11	69828029	missense	probably damaging	1.00
Z1186:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1187:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1188:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1189:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1190:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1191:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57
Z1192:Nlgn2	UTSW	11	69828394	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TTTGAGCAATGGCCTTCTGG -3'
(R):5'- CTTACGCTGCATTAAGCCCCTG -3'

Sequencing Primer
(F):5'- AGACCTCAGGCTAGGCTGTTATC -3'
(R):5'- GCCCCTGGCTGAGAGGC -3'

Posted On

2022-05-16