Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Nrxn3'

367960

Institutional Source

Beutler Lab

Gene Symbol

Nrxn3

Ensembl Gene

ENSMUSG00000066392

Gene Name

neurexin III

Synonyms

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

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88722876-90334935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90331956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 417 (V417E)

Ref Sequence

ENSEMBL: ENSMUSP00000105757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057634] [ENSMUST00000110130] [ENSMUST00000110133] [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000167887] [ENSMUST00000190626]

AlphaFold

Q6P9K9

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000110130
AA Change: V417E

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105757
Gene: ENSMUSG00000066392
AA Change: V417E

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
LamG	107	264	1.14e-17	SMART
Blast:LamG	294	410	6e-47	BLAST
low complexity region	492	507	N/A	INTRINSIC
4.1m	510	528	4.38e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110133

SMART Domains

Protein: ENSMUSP00000105760
Gene: ENSMUSG00000066392

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
LamG	107	234	1.8e-20	SMART
Blast:LamG	264	330	1e-19	BLAST
low complexity region	358	373	N/A	INTRINSIC
4.1m	376	394	4.38e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163134
AA Change: V1421E

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: V1421E

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 benign
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

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,535	Y683*	probably null	Het
2610028H24Rik	A	T	10: 76,457,512	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546		probably benign	Het
Arfgef3	A	T	10: 18,654,247	S245T	probably benign	Het
Arntl	A	T	7: 113,285,037	K94I	probably damaging	Het
Atp1b2	A	T	11: 69,601,561	D224E	probably damaging	Het
Boc	G	A	16: 44,487,721	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183		probably benign	Het
Ces1b	A	T	8: 93,063,030	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541		probably benign	Het
Cic	T	G	7: 25,282,883	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946		probably benign	Het
Fam208b	A	G	13: 3,570,391	F2170S	probably damaging	Het
Fbxw7	T	G	3: 84,925,689	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068		probably null	Het
Gm2663	A	T	6: 40,995,953	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,548,096	Q140*	probably null	Het
Gnptab	G	A	10: 88,436,528	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734	E232V	probably benign	Het
Ifi207	T	A	1: 173,730,056	D372V	unknown	Het
Igkv8-28	A	T	6: 70,144,118	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532	Q337L	probably benign	Het
March10	T	A	11: 105,390,037	D474V	probably benign	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193		probably null	Het
Med12l	T	C	3: 59,233,212	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126	L342P	probably benign	Het
Ntng1	T	A	3: 109,934,713	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998	Q117R	probably benign	Het
Olfr1311	A	G	2: 112,020,931	Y308H	probably benign	Het
Olfr444	A	G	6: 42,955,521	I8V	probably benign	Het
Olfr589	A	G	7: 103,155,414	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871		probably benign	Het
Pard6b	A	G	2: 168,098,788	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932		probably benign	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824	D731V	probably null	Het
Sox6	T	G	7: 115,541,670	K483N	probably damaging	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,792,351	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833		probably benign	Het
Tec	T	C	5: 72,768,776	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640	M1K	probably null	Het
Trdn	T	A	10: 33,399,082		probably null	Het
Trp53	A	T	11: 69,586,921	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838		probably null	Het
Ulk1	C	T	5: 110,788,947		probably null	Het
Upp1	T	C	11: 9,135,976	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,388,661	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518	H287R	probably damaging	Het

Other mutations in Nrxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrxn3	APN	12	90204592	missense	probably damaging	1.00
IGL00961:Nrxn3	APN	12	90204546	missense	possibly damaging	0.95
IGL01073:Nrxn3	APN	12	89254740	missense	probably benign	0.25
IGL01338:Nrxn3	APN	12	89255034	missense	possibly damaging	0.86
IGL01377:Nrxn3	APN	12	89533012	critical splice donor site	probably null
IGL01409:Nrxn3	APN	12	89510358	missense	probably damaging	1.00
IGL01764:Nrxn3	APN	12	90204750	missense	possibly damaging	0.48
IGL02063:Nrxn3	APN	12	88795795	missense	possibly damaging	0.86
IGL02171:Nrxn3	APN	12	89193163	missense	probably damaging	1.00
IGL02309:Nrxn3	APN	12	89976407	missense	probably damaging	0.99
IGL02340:Nrxn3	APN	12	90204628	missense	possibly damaging	0.82
IGL02343:Nrxn3	APN	12	88795353	missense	probably damaging	1.00
IGL02600:Nrxn3	APN	12	89511912	splice site	probably benign
IGL02735:Nrxn3	APN	12	89254854	missense	probably benign	0.16
IGL03061:Nrxn3	APN	12	89511928	nonsense	probably null
IGL03206:Nrxn3	APN	12	89260508	missense	possibly damaging	0.88
IGL03337:Nrxn3	APN	12	89255020	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89260201	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89260201	missense	probably damaging	1.00
R0144:Nrxn3	UTSW	12	89348392	missense	probably damaging	1.00
R0334:Nrxn3	UTSW	12	89813642	critical splice donor site	probably null
R0531:Nrxn3	UTSW	12	88795342	missense	probably damaging	1.00
R0840:Nrxn3	UTSW	12	90331793	missense	possibly damaging	0.68
R1324:Nrxn3	UTSW	12	89254696	missense	possibly damaging	0.89
R1438:Nrxn3	UTSW	12	90332135	missense	probably damaging	1.00
R1484:Nrxn3	UTSW	12	89254777	missense	probably damaging	0.99
R1621:Nrxn3	UTSW	12	88795710	missense	probably benign
R1637:Nrxn3	UTSW	12	89354468	missense	possibly damaging	0.94
R1659:Nrxn3	UTSW	12	90332391	missense	probably damaging	1.00
R1746:Nrxn3	UTSW	12	89255019	missense	possibly damaging	0.63
R1801:Nrxn3	UTSW	12	90283582	missense	probably damaging	1.00
R1912:Nrxn3	UTSW	12	88795342	missense	probably damaging	1.00
R1940:Nrxn3	UTSW	12	89260381	missense	probably damaging	0.98
R1993:Nrxn3	UTSW	12	89260411	missense	possibly damaging	0.59
R2002:Nrxn3	UTSW	12	90332315	missense	probably damaging	1.00
R2125:Nrxn3	UTSW	12	89260520	splice site	probably null
R2179:Nrxn3	UTSW	12	89254678	missense	probably damaging	1.00
R2207:Nrxn3	UTSW	12	89348312	missense	probably damaging	1.00
R2284:Nrxn3	UTSW	12	89510365	missense	probably damaging	1.00
R2433:Nrxn3	UTSW	12	89976392	missense	probably damaging	1.00
R2969:Nrxn3	UTSW	12	89354471	missense	probably damaging	1.00
R3053:Nrxn3	UTSW	12	89255101	missense	probably damaging	0.99
R3076:Nrxn3	UTSW	12	89260416	missense	probably damaging	1.00
R3078:Nrxn3	UTSW	12	89260416	missense	probably damaging	1.00
R4033:Nrxn3	UTSW	12	89533001	missense	probably damaging	1.00
R4222:Nrxn3	UTSW	12	89532992	nonsense	probably null
R4321:Nrxn3	UTSW	12	90199231	missense	probably damaging	1.00
R4470:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4471:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4472:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4686:Nrxn3	UTSW	12	89510651	missense	probably damaging	0.99
R4821:Nrxn3	UTSW	12	90204709	missense	probably damaging	0.99
R4869:Nrxn3	UTSW	12	88795582	missense	possibly damaging	0.95
R4910:Nrxn3	UTSW	12	89260360	missense	possibly damaging	0.72
R4960:Nrxn3	UTSW	12	88795201	missense	possibly damaging	0.79
R4990:Nrxn3	UTSW	12	89260474	missense	probably damaging	1.00
R4991:Nrxn3	UTSW	12	89260474	missense	probably damaging	1.00
R5057:Nrxn3	UTSW	12	89255034	missense	probably damaging	0.99
R5329:Nrxn3	UTSW	12	89813584	missense	possibly damaging	0.92
R5888:Nrxn3	UTSW	12	89512085	missense	possibly damaging	0.91
R6249:Nrxn3	UTSW	12	89254678	missense	probably damaging	1.00
R6264:Nrxn3	UTSW	12	90332237	missense	probably damaging	1.00
R6373:Nrxn3	UTSW	12	89976469	missense	probably damaging	1.00
R6401:Nrxn3	UTSW	12	89255000	missense	possibly damaging	0.46
R6434:Nrxn3	UTSW	12	88795515	missense	probably benign	0.32
R6528:Nrxn3	UTSW	12	89513049	missense	probably damaging	1.00
R6612:Nrxn3	UTSW	12	89813332	intron	probably benign
R6632:Nrxn3	UTSW	12	89193154	missense	probably damaging	1.00
R6874:Nrxn3	UTSW	12	90332190	missense	probably damaging	0.99
R7122:Nrxn3	UTSW	12	89510607	missense	probably damaging	1.00
R7328:Nrxn3	UTSW	12	88795575	missense	probably benign
R7352:Nrxn3	UTSW	12	88850293	missense	probably benign
R7425:Nrxn3	UTSW	12	89513100	nonsense	probably null
R7444:Nrxn3	UTSW	12	89510694	missense	probably damaging	1.00
R7483:Nrxn3	UTSW	12	89510462	missense	probably damaging	1.00
R7599:Nrxn3	UTSW	12	89512062	missense	probably benign
R7738:Nrxn3	UTSW	12	88850304	missense	possibly damaging	0.68
R7765:Nrxn3	UTSW	12	89813484	missense	probably benign	0.03
R8139:Nrxn3	UTSW	12	90204664	missense	probably benign	0.01
R8192:Nrxn3	UTSW	12	90204795	missense	probably benign	0.08
R8351:Nrxn3	UTSW	12	89510643	missense	probably damaging	1.00
R8368:Nrxn3	UTSW	12	90332041	nonsense	probably null
R8397:Nrxn3	UTSW	12	90331809	missense	probably benign	0.17
R8426:Nrxn3	UTSW	12	88795327	missense	possibly damaging	0.91
R8451:Nrxn3	UTSW	12	89510643	missense	probably damaging	1.00
R8777:Nrxn3	UTSW	12	89260464	missense	probably damaging	1.00
R8777-TAIL:Nrxn3	UTSW	12	89260464	missense	probably damaging	1.00
R8844:Nrxn3	UTSW	12	89187150	missense	possibly damaging	0.88
R8870:Nrxn3	UTSW	12	90204786	missense	probably benign	0.00
R9043:Nrxn3	UTSW	12	89260482	missense	probably damaging	1.00
R9102:Nrxn3	UTSW	12	90332150	missense	probably benign	0.01
R9167:Nrxn3	UTSW	12	89187298	missense	probably damaging	1.00
R9445:Nrxn3	UTSW	12	89532967	nonsense	probably null
R9447:Nrxn3	UTSW	12	89254908	missense	probably benign	0.35
X0019:Nrxn3	UTSW	12	90199221	missense	probably damaging	1.00
Z1176:Nrxn3	UTSW	12	89187055	nonsense	probably null
Z1176:Nrxn3	UTSW	12	89517909	missense	possibly damaging	0.45
Z1177:Nrxn3	UTSW	12	88795688	missense	probably benign	0.00
Z1177:Nrxn3	UTSW	12	89260312	missense	probably damaging	1.00
Z1177:Nrxn3	UTSW	12	90331845	missense	probably benign	0.05
Z1177:Nrxn3	UTSW	12	90332114	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTAACAGATAAGAGTCTTTCCAC -3'
(R):5'- TCCCTGTTGTACTGCTGGAC -3'

Sequencing Primer
(F):5'- ACTTCAATCTTCGAAGGTGGC -3'
(R):5'- GGAACCCGTCTGATTCCTG -3'

Posted On

2015-12-29