Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Nrxn3'

78783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrxn3

Ensembl Gene

ENSMUSG00000066392

Gene Name

neurexin III

Synonyms

4933401A11Rik, D12Bwg0831e, neurexin III alpha, neurexin III alpha, neurexin III beta, neurexin III beta, 9330112C09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 89499782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057634] [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000167887] [ENSMUST00000190626]

AlphaFold

Q6P9K9

Predicted Effect

probably null
Transcript: ENSMUST00000057634

SMART Domains

Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
LamG	94	246	3.28e-41	SMART
EGF	273	307	4.1e-2	SMART
LamG	332	470	4.87e-26	SMART
LamG	518	654	7.08e-37	SMART
EGF	688	722	1.99e1	SMART
LamG	750	907	1.14e-17	SMART
low complexity region	948	964	N/A	INTRINSIC
low complexity region	1028	1043	N/A	INTRINSIC
4.1m	1046	1064	4.38e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000163134

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
LamG	47	184	9.8e-31	SMART
EGF	201	235	8.07e-1	SMART
LamG	279	413	7.19e-38	SMART
LamG	467	619	3.28e-41	SMART
EGF	646	680	4.1e-2	SMART
LamG	705	843	4.87e-26	SMART
LamG	891	1027	7.08e-37	SMART
EGF	1052	1086	1.99e1	SMART
LamG	1114	1271	1.14e-17	SMART
low complexity region	1312	1328	N/A	INTRINSIC
low complexity region	1395	1406	N/A	INTRINSIC
low complexity region	1499	1514	N/A	INTRINSIC
4.1m	1517	1535	4.38e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167103

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
LamG	47	184	9.8e-31	SMART
EGF	201	235	8.07e-1	SMART
LamG	279	413	7.19e-38	SMART
LamG	467	619	3.28e-41	SMART
EGF	646	680	4.1e-2	SMART
LamG	705	834	5.76e-28	SMART
LamG	882	1018	7.08e-37	SMART
EGF	1043	1077	1.99e1	SMART
LamG	1105	1262	1.14e-17	SMART
low complexity region	1303	1319	N/A	INTRINSIC
low complexity region	1354	1382	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167887

SMART Domains

Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
LamG	94	246	3.28e-41	SMART
EGF	273	307	4.1e-2	SMART
LamG	332	470	4.87e-26	SMART
LamG	518	654	7.08e-37	SMART
EGF	688	722	1.99e1	SMART
LamG	750	907	1.14e-17	SMART
low complexity region	948	964	N/A	INTRINSIC
low complexity region	1028	1043	N/A	INTRINSIC
4.1m	1046	1064	4.38e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190626

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
LamG	94	246	2.1e-43	SMART
EGF	273	307	2e-4	SMART
LamG	332	470	3.1e-28	SMART
LamG	518	654	4.4e-39	SMART
EGF	688	722	9.6e-2	SMART
LamG	750	877	1.1e-22	SMART
low complexity region	918	934	N/A	INTRINSIC
low complexity region	972	1000	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. [provided by RefSeq, Dec 2012]
PHENOTYPE: Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,460,108 (GRCm39)	V196D	probably damaging	Het
Ago1	C	T	4: 126,353,610 (GRCm39)	V279M	probably damaging	Het
Bltp1	T	C	3: 37,027,601 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,966 (GRCm39)	D675G	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,708 (GRCm39)	Y291N	probably damaging	Het
Cdca5	T	C	19: 6,140,312 (GRCm39)	S158P	probably damaging	Het
Cdh8	A	G	8: 99,760,021 (GRCm39)	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,953,640 (GRCm39)		probably null	Het
Cyc1	C	T	15: 76,229,162 (GRCm39)	R143*	probably null	Het
Dcaf6	A	T	1: 165,216,293 (GRCm39)	S437T	probably benign	Het
Eif5b	A	G	1: 38,075,179 (GRCm39)	D552G	probably benign	Het
Epor	T	C	9: 21,870,593 (GRCm39)	D429G	probably damaging	Het
Farp2	A	G	1: 93,531,181 (GRCm39)	I560V	possibly damaging	Het
Fbxw21	T	A	9: 108,975,713 (GRCm39)	R228*	probably null	Het
Fyb1	T	C	15: 6,609,801 (GRCm39)	S125P	probably benign	Het
Gfm1	A	T	3: 67,382,086 (GRCm39)	Y720F	probably damaging	Het
Hspbap1	T	A	16: 35,645,681 (GRCm39)	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,090,153 (GRCm39)	R285G	probably damaging	Het
Kif12	G	A	4: 63,088,962 (GRCm39)	T153I	probably damaging	Het
Klhl31	T	C	9: 77,558,013 (GRCm39)	F243S	probably benign	Het
Large2	A	G	2: 92,199,676 (GRCm39)	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,491,550 (GRCm39)	V239A	probably damaging	Het
Mblac2	G	A	13: 81,898,266 (GRCm39)	R214H	probably damaging	Het
Mlf2	A	G	6: 124,911,654 (GRCm39)	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,519,483 (GRCm39)	Y134*	probably null	Het
Mtus1	T	C	8: 41,536,172 (GRCm39)	K515E	possibly damaging	Het
Nek1	A	G	8: 61,542,490 (GRCm39)	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241 (GRCm39)	N305S	probably benign	Het
Nsf	T	C	11: 103,763,473 (GRCm39)	D377G	probably damaging	Het
Pde4b	A	G	4: 102,344,599 (GRCm39)	E102G	probably damaging	Het
Pdlim4	G	T	11: 53,947,130 (GRCm39)	S56R	probably benign	Het
Poc5	T	C	13: 96,538,139 (GRCm39)	V268A	probably benign	Het
Sec23b	A	C	2: 144,401,157 (GRCm39)	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,424,048 (GRCm39)		probably benign	Het
Slc16a12	T	A	19: 34,650,084 (GRCm39)	N317I	possibly damaging	Het
Slc1a7	A	T	4: 107,850,162 (GRCm39)	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,473,173 (GRCm39)	S86A	probably benign	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,636 (GRCm39)	S16P	probably benign	Het
Tmtc1	A	C	6: 148,147,285 (GRCm39)	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,321,371 (GRCm39)	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,288,855 (GRCm39)	D215E	probably damaging	Het

Other mutations in Nrxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrxn3	APN	12	90,171,366 (GRCm39)	missense	probably damaging	1.00
IGL00961:Nrxn3	APN	12	90,171,320 (GRCm39)	missense	possibly damaging	0.95
IGL01073:Nrxn3	APN	12	89,221,510 (GRCm39)	missense	probably benign	0.25
IGL01338:Nrxn3	APN	12	89,221,804 (GRCm39)	missense	possibly damaging	0.86
IGL01409:Nrxn3	APN	12	89,477,128 (GRCm39)	missense	probably damaging	1.00
IGL01764:Nrxn3	APN	12	90,171,524 (GRCm39)	missense	possibly damaging	0.48
IGL02063:Nrxn3	APN	12	88,762,565 (GRCm39)	missense	possibly damaging	0.86
IGL02171:Nrxn3	APN	12	89,159,933 (GRCm39)	missense	probably damaging	1.00
IGL02309:Nrxn3	APN	12	89,943,175 (GRCm39)	missense	probably damaging	0.99
IGL02340:Nrxn3	APN	12	90,171,402 (GRCm39)	missense	possibly damaging	0.82
IGL02343:Nrxn3	APN	12	88,762,123 (GRCm39)	missense	probably damaging	1.00
IGL02600:Nrxn3	APN	12	89,478,682 (GRCm39)	splice site	probably benign
IGL02735:Nrxn3	APN	12	89,221,624 (GRCm39)	missense	probably benign	0.16
IGL03061:Nrxn3	APN	12	89,478,698 (GRCm39)	nonsense	probably null
IGL03206:Nrxn3	APN	12	89,227,278 (GRCm39)	missense	possibly damaging	0.88
IGL03337:Nrxn3	APN	12	89,221,790 (GRCm39)	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89,226,971 (GRCm39)	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89,226,971 (GRCm39)	missense	probably damaging	1.00
R0144:Nrxn3	UTSW	12	89,315,162 (GRCm39)	missense	probably damaging	1.00
R0334:Nrxn3	UTSW	12	89,780,412 (GRCm39)	critical splice donor site	probably null
R0531:Nrxn3	UTSW	12	88,762,112 (GRCm39)	missense	probably damaging	1.00
R0840:Nrxn3	UTSW	12	90,298,567 (GRCm39)	missense	possibly damaging	0.68
R1324:Nrxn3	UTSW	12	89,221,466 (GRCm39)	missense	possibly damaging	0.89
R1438:Nrxn3	UTSW	12	90,298,909 (GRCm39)	missense	probably damaging	1.00
R1484:Nrxn3	UTSW	12	89,221,547 (GRCm39)	missense	probably damaging	0.99
R1621:Nrxn3	UTSW	12	88,762,480 (GRCm39)	missense	probably benign
R1637:Nrxn3	UTSW	12	89,321,238 (GRCm39)	missense	possibly damaging	0.94
R1659:Nrxn3	UTSW	12	90,299,165 (GRCm39)	missense	probably damaging	1.00
R1746:Nrxn3	UTSW	12	89,221,789 (GRCm39)	missense	possibly damaging	0.63
R1801:Nrxn3	UTSW	12	90,250,356 (GRCm39)	missense	probably damaging	1.00
R1912:Nrxn3	UTSW	12	88,762,112 (GRCm39)	missense	probably damaging	1.00
R1940:Nrxn3	UTSW	12	89,227,151 (GRCm39)	missense	probably damaging	0.98
R1993:Nrxn3	UTSW	12	89,227,181 (GRCm39)	missense	possibly damaging	0.59
R2002:Nrxn3	UTSW	12	90,299,089 (GRCm39)	missense	probably damaging	1.00
R2125:Nrxn3	UTSW	12	89,227,290 (GRCm39)	splice site	probably null
R2179:Nrxn3	UTSW	12	89,221,448 (GRCm39)	missense	probably damaging	1.00
R2207:Nrxn3	UTSW	12	89,315,082 (GRCm39)	missense	probably damaging	1.00
R2284:Nrxn3	UTSW	12	89,477,135 (GRCm39)	missense	probably damaging	1.00
R2433:Nrxn3	UTSW	12	89,943,160 (GRCm39)	missense	probably damaging	1.00
R2969:Nrxn3	UTSW	12	89,321,241 (GRCm39)	missense	probably damaging	1.00
R3053:Nrxn3	UTSW	12	89,221,871 (GRCm39)	missense	probably damaging	0.99
R3076:Nrxn3	UTSW	12	89,227,186 (GRCm39)	missense	probably damaging	1.00
R3078:Nrxn3	UTSW	12	89,227,186 (GRCm39)	missense	probably damaging	1.00
R4033:Nrxn3	UTSW	12	89,499,771 (GRCm39)	missense	probably damaging	1.00
R4222:Nrxn3	UTSW	12	89,499,762 (GRCm39)	nonsense	probably null
R4321:Nrxn3	UTSW	12	90,166,005 (GRCm39)	missense	probably damaging	1.00
R4470:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4471:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4472:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4686:Nrxn3	UTSW	12	89,477,421 (GRCm39)	missense	probably damaging	0.99
R4776:Nrxn3	UTSW	12	90,298,730 (GRCm39)	missense	possibly damaging	0.55
R4821:Nrxn3	UTSW	12	90,171,483 (GRCm39)	missense	probably damaging	0.99
R4869:Nrxn3	UTSW	12	88,762,352 (GRCm39)	missense	possibly damaging	0.95
R4910:Nrxn3	UTSW	12	89,227,130 (GRCm39)	missense	possibly damaging	0.72
R4960:Nrxn3	UTSW	12	88,761,971 (GRCm39)	missense	possibly damaging	0.79
R4990:Nrxn3	UTSW	12	89,227,244 (GRCm39)	missense	probably damaging	1.00
R4991:Nrxn3	UTSW	12	89,227,244 (GRCm39)	missense	probably damaging	1.00
R5057:Nrxn3	UTSW	12	89,221,804 (GRCm39)	missense	probably damaging	0.99
R5329:Nrxn3	UTSW	12	89,780,354 (GRCm39)	missense	possibly damaging	0.92
R5888:Nrxn3	UTSW	12	89,478,855 (GRCm39)	missense	possibly damaging	0.91
R6249:Nrxn3	UTSW	12	89,221,448 (GRCm39)	missense	probably damaging	1.00
R6264:Nrxn3	UTSW	12	90,299,011 (GRCm39)	missense	probably damaging	1.00
R6373:Nrxn3	UTSW	12	89,943,237 (GRCm39)	missense	probably damaging	1.00
R6401:Nrxn3	UTSW	12	89,221,770 (GRCm39)	missense	possibly damaging	0.46
R6434:Nrxn3	UTSW	12	88,762,285 (GRCm39)	missense	probably benign	0.32
R6528:Nrxn3	UTSW	12	89,479,819 (GRCm39)	missense	probably damaging	1.00
R6612:Nrxn3	UTSW	12	89,780,102 (GRCm39)	intron	probably benign
R6632:Nrxn3	UTSW	12	89,159,924 (GRCm39)	missense	probably damaging	1.00
R6874:Nrxn3	UTSW	12	90,298,964 (GRCm39)	missense	probably damaging	0.99
R7122:Nrxn3	UTSW	12	89,477,377 (GRCm39)	missense	probably damaging	1.00
R7328:Nrxn3	UTSW	12	88,762,345 (GRCm39)	missense	probably benign
R7352:Nrxn3	UTSW	12	88,817,063 (GRCm39)	missense	probably benign
R7425:Nrxn3	UTSW	12	89,479,870 (GRCm39)	nonsense	probably null
R7444:Nrxn3	UTSW	12	89,477,464 (GRCm39)	missense	probably damaging	1.00
R7483:Nrxn3	UTSW	12	89,477,232 (GRCm39)	missense	probably damaging	1.00
R7599:Nrxn3	UTSW	12	89,478,832 (GRCm39)	missense	probably benign
R7738:Nrxn3	UTSW	12	88,817,074 (GRCm39)	missense	possibly damaging	0.68
R7765:Nrxn3	UTSW	12	89,780,254 (GRCm39)	missense	probably benign	0.03
R8139:Nrxn3	UTSW	12	90,171,438 (GRCm39)	missense	probably benign	0.01
R8192:Nrxn3	UTSW	12	90,171,569 (GRCm39)	missense	probably benign	0.08
R8351:Nrxn3	UTSW	12	89,477,413 (GRCm39)	missense	probably damaging	1.00
R8368:Nrxn3	UTSW	12	90,298,815 (GRCm39)	nonsense	probably null
R8397:Nrxn3	UTSW	12	90,298,583 (GRCm39)	missense	probably benign	0.17
R8426:Nrxn3	UTSW	12	88,762,097 (GRCm39)	missense	possibly damaging	0.91
R8451:Nrxn3	UTSW	12	89,477,413 (GRCm39)	missense	probably damaging	1.00
R8777:Nrxn3	UTSW	12	89,227,234 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Nrxn3	UTSW	12	89,227,234 (GRCm39)	missense	probably damaging	1.00
R8844:Nrxn3	UTSW	12	89,153,920 (GRCm39)	missense	possibly damaging	0.88
R8870:Nrxn3	UTSW	12	90,171,560 (GRCm39)	missense	probably benign	0.00
R9043:Nrxn3	UTSW	12	89,227,252 (GRCm39)	missense	probably damaging	1.00
R9102:Nrxn3	UTSW	12	90,298,924 (GRCm39)	missense	probably benign	0.01
R9167:Nrxn3	UTSW	12	89,154,068 (GRCm39)	missense	probably damaging	1.00
R9445:Nrxn3	UTSW	12	89,499,737 (GRCm39)	nonsense	probably null
R9447:Nrxn3	UTSW	12	89,221,678 (GRCm39)	missense	probably benign	0.35
X0019:Nrxn3	UTSW	12	90,165,995 (GRCm39)	missense	probably damaging	1.00
Z1176:Nrxn3	UTSW	12	89,484,679 (GRCm39)	missense	possibly damaging	0.45
Z1176:Nrxn3	UTSW	12	89,153,825 (GRCm39)	nonsense	probably null
Z1177:Nrxn3	UTSW	12	90,298,619 (GRCm39)	missense	probably benign	0.05
Z1177:Nrxn3	UTSW	12	89,227,082 (GRCm39)	missense	probably damaging	1.00
Z1177:Nrxn3	UTSW	12	88,762,458 (GRCm39)	missense	probably benign	0.00
Z1177:Nrxn3	UTSW	12	90,298,888 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-05