Mutagenetix > Incidental Mutation

Incidental Mutation 'R1936:Nlgn1'

215772

Institutional Source

Beutler Lab

Gene Symbol

Nlgn1

Ensembl Gene

ENSMUSG00000063887

Gene Name

neuroligin 1

Synonyms

NL1, Nlg1, 6330415N05Rik

MMRRC Submission

039954-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1936 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

25480379-26386609 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 26385939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000193603]

AlphaFold

Q99K10

PDB Structure

Crystal structure of a synaptic adhesion complex [X-RAY DIFFRACTION]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099182

SMART Domains

Protein: ENSMUSP00000096787
Gene: ENSMUSG00000074664

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
low complexity region	80	86	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192774

Predicted Effect

probably benign
Transcript: ENSMUST00000193603

SMART Domains

Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195446

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

99% (98/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,894,061 (GRCm39)	Q226R	possibly damaging	Het
Abca13	G	A	11: 9,243,595 (GRCm39)	M1819I	probably benign	Het
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Cacna2d4	A	G	6: 119,247,722 (GRCm39)	D341G	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,339 (GRCm39)	Y175C	probably damaging	Het
Cep170b	G	T	12: 112,702,172 (GRCm39)	D322Y	probably damaging	Het
Cflar	T	A	1: 58,791,784 (GRCm39)	Y362*	probably null	Het
Chml	A	T	1: 175,514,825 (GRCm39)	C365*	probably null	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dennd1c	G	A	17: 57,380,889 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,323 (GRCm39)	M761K	possibly damaging	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Epha8	T	C	4: 136,667,554 (GRCm39)	D309G	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gimap3	A	T	6: 48,742,683 (GRCm39)	F82L	probably damaging	Het
Gm4862	T	C	3: 138,834,253 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr152	A	G	19: 4,192,531 (GRCm39)	D24G	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
Hip1r	T	A	5: 124,134,134 (GRCm39)	M270K	probably damaging	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Itprid1	G	T	6: 55,874,666 (GRCm39)	L205F	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Mark3	A	G	12: 111,584,799 (GRCm39)	M132V	probably damaging	Het
Mast3	A	G	8: 71,237,444 (GRCm39)	Y577H	probably damaging	Het
Med24	A	T	11: 98,609,642 (GRCm39)		probably null	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Or10ad1c	T	A	15: 98,085,462 (GRCm39)	H72L	probably benign	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or5t15	A	G	2: 86,681,745 (GRCm39)	M99T	probably benign	Het
Or8b12i	A	G	9: 20,082,477 (GRCm39)	L130P	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pphln1	A	G	15: 93,386,868 (GRCm39)	D234G	possibly damaging	Het
Prdm2	T	C	4: 142,861,032 (GRCm39)	S753G	probably benign	Het
Prss32	A	G	17: 24,075,024 (GRCm39)	R125G	possibly damaging	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Psmd11	T	C	11: 80,319,570 (GRCm39)	L20P	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Sdr9c7	A	G	10: 127,739,503 (GRCm39)	K206R	probably benign	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc1a2	A	G	2: 102,607,950 (GRCm39)	N530D	probably benign	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Smchd1	T	C	17: 71,770,786 (GRCm39)	Y132C	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Speg	C	T	1: 75,408,052 (GRCm39)	T3249I	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tdrd6	A	G	17: 43,937,358 (GRCm39)	L1230P	probably damaging	Het
Tesk2	A	G	4: 116,599,021 (GRCm39)	Y43C	probably benign	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmprss11f	T	A	5: 86,692,723 (GRCm39)	Q67L	probably benign	Het
Tnfrsf23	A	G	7: 143,222,291 (GRCm39)	F174L	probably benign	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trim25	A	T	11: 88,895,576 (GRCm39)	T206S	probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trpc4	T	A	3: 54,187,311 (GRCm39)	M421K	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vmn2r94	G	A	17: 18,464,554 (GRCm39)	R579*	probably null	Het
Vps72	T	A	3: 95,029,851 (GRCm39)	V290D	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp26	A	G	9: 20,348,849 (GRCm39)	Y572H	probably benign	Het
Zfp292	A	G	4: 34,807,452 (GRCm39)	V1864A	probably benign	Het
Zfp952	A	T	17: 33,222,643 (GRCm39)	H374L	possibly damaging	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	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
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'- AGAATCACTGCCTTTCTCGGG -3'
(R):5'- TGTTCCTGGTCTTCAGCCAG -3'

Sequencing Primer
(F):5'- TCGGAAGACTAGGAGCCTC -3'
(R):5'- GGTCTTCAGCCAGCCTCC -3'

Posted On

2014-07-14