Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01759:Nrxn2'

153519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrxn2

Ensembl Gene

ENSMUSG00000033768

Gene Name

neurexin II

Synonyms

6430591O13Rik, neurexin II beta, neurexin II alpha

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

6418731-6544169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6509929 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1206 (V1206A)

Ref Sequence

ENSEMBL: ENSMUSP00000109088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113458] [ENSMUST00000113459] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077182
AA Change: V1231A

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: V1231A

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	444	1.18e-33	SMART
LamG	498	651	1.51e-40	SMART
EGF	678	712	8.91e-3	SMART
LamG	737	875	4.91e-22	SMART
LamG	923	1059	1.08e-41	SMART
EGF	1084	1118	1.91e1	SMART
LamG	1146	1303	4.48e-16	SMART
low complexity region	1332	1362	N/A	INTRINSIC
low complexity region	1430	1445	N/A	INTRINSIC
4.1m	1448	1466	3.75e-4	SMART
low complexity region	1480	1499	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113458
AA Change: V196A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109085
Gene: ENSMUSG00000033768
AA Change: V196A

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
LamG	111	268	4.48e-16	SMART
low complexity region	297	327	N/A	INTRINSIC
low complexity region	383	404	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC
4.1m	605	623	3.75e-4	SMART
low complexity region	637	656	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113459
AA Change: V196A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768
AA Change: V196A

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
LamG	111	238	1.26e-19	SMART
low complexity region	267	297	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113461
AA Change: V1206A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: V1206A

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
LamG	286	428	8.4e-30	SMART
LamG	482	635	1.51e-40	SMART
EGF	662	696	8.91e-3	SMART
LamG	721	850	2.36e-24	SMART
LamG	898	1034	1.08e-41	SMART
EGF	1059	1093	1.91e1	SMART
LamG	1121	1248	1.26e-19	SMART
low complexity region	1277	1307	N/A	INTRINSIC
low complexity region	1363	1384	N/A	INTRINSIC
low complexity region	1567	1582	N/A	INTRINSIC
4.1m	1585	1603	3.75e-4	SMART
low complexity region	1617	1636	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113462
AA Change: V1239A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: V1239A

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	452	8.4e-30	SMART
LamG	506	659	1.51e-40	SMART
EGF	686	720	8.91e-3	SMART
LamG	745	883	4.91e-22	SMART
LamG	931	1067	1.08e-41	SMART
EGF	1092	1126	1.91e1	SMART
LamG	1154	1311	4.48e-16	SMART
low complexity region	1340	1370	N/A	INTRINSIC
low complexity region	1426	1447	N/A	INTRINSIC
low complexity region	1630	1645	N/A	INTRINSIC
4.1m	1648	1666	3.75e-4	SMART
low complexity region	1680	1699	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137166
AA Change: V1246A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: V1246A

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	459	8.87e-29	SMART
LamG	513	666	1.51e-40	SMART
EGF	693	727	8.91e-3	SMART
LamG	752	890	4.91e-22	SMART
LamG	938	1074	1.08e-41	SMART
EGF	1099	1133	1.91e1	SMART
LamG	1161	1318	4.48e-16	SMART
low complexity region	1347	1377	N/A	INTRINSIC
low complexity region	1433	1454	N/A	INTRINSIC
low complexity region	1637	1652	N/A	INTRINSIC
4.1m	1655	1673	3.75e-4	SMART
low complexity region	1687	1706	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148391

Coding Region Coverage

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 the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cdh17	T	A	4: 11,771,262		probably benign	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cep97	T	C	16: 55,930,573	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
L3mbtl3	A	G	10: 26,331,900	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	Het

Other mutations in Nrxn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Nrxn2	APN	19	6473593	missense	possibly damaging	0.84
IGL01020:Nrxn2	APN	19	6493443	missense	probably benign	0.02
IGL01064:Nrxn2	APN	19	6517053	missense	probably damaging	0.97
IGL01561:Nrxn2	APN	19	6490142	missense	probably damaging	1.00
IGL02071:Nrxn2	APN	19	6481753	missense	probably damaging	1.00
IGL02085:Nrxn2	APN	19	6492868	missense	possibly damaging	0.83
IGL02132:Nrxn2	APN	19	6472276	missense	probably damaging	1.00
IGL02476:Nrxn2	APN	19	6454985	missense	probably damaging	1.00
IGL02605:Nrxn2	APN	19	6450580	missense	probably benign	0.02
IGL03123:Nrxn2	APN	19	6481737	missense	probably damaging	0.98
IGL03288:Nrxn2	APN	19	6490696	missense	probably damaging	1.00
PIT4687001:Nrxn2	UTSW	19	6481308	missense	probably benign	0.06
R0019:Nrxn2	UTSW	19	6509957	splice site	probably benign
R0257:Nrxn2	UTSW	19	6490698	missense	possibly damaging	0.81
R0305:Nrxn2	UTSW	19	6519283	missense	probably damaging	1.00
R0453:Nrxn2	UTSW	19	6491521	missense	probably damaging	1.00
R0512:Nrxn2	UTSW	19	6517198	missense	probably damaging	1.00
R0539:Nrxn2	UTSW	19	6493404	missense	probably damaging	0.99
R0571:Nrxn2	UTSW	19	6473533	missense	probably damaging	1.00
R1373:Nrxn2	UTSW	19	6472301	missense	probably damaging	1.00
R1434:Nrxn2	UTSW	19	6443612	intron	probably null
R1454:Nrxn2	UTSW	19	6481446	missense	probably damaging	0.98
R1671:Nrxn2	UTSW	19	6473750	missense	probably damaging	1.00
R1692:Nrxn2	UTSW	19	6519268	missense	probably damaging	1.00
R1858:Nrxn2	UTSW	19	6488795	missense	probably benign	0.01
R1859:Nrxn2	UTSW	19	6488795	missense	probably benign	0.01
R2153:Nrxn2	UTSW	19	6504914	missense	probably damaging	1.00
R2196:Nrxn2	UTSW	19	6490109	missense	probably damaging	1.00
R2209:Nrxn2	UTSW	19	6493007	missense	probably benign	0.01
R2278:Nrxn2	UTSW	19	6481853	missense	probably damaging	1.00
R2441:Nrxn2	UTSW	19	6428301	missense	probably damaging	1.00
R3897:Nrxn2	UTSW	19	6519257	missense	probably damaging	1.00
R3943:Nrxn2	UTSW	19	6473335	missense	probably damaging	1.00
R4091:Nrxn2	UTSW	19	6473414	missense	probably damaging	1.00
R4162:Nrxn2	UTSW	19	6532143	missense	probably damaging	1.00
R4164:Nrxn2	UTSW	19	6532143	missense	probably damaging	1.00
R4495:Nrxn2	UTSW	19	6531399	missense	probably benign	0.05
R4599:Nrxn2	UTSW	19	6455252	missense	probably damaging	0.98
R4735:Nrxn2	UTSW	19	6498454	missense	possibly damaging	0.86
R4757:Nrxn2	UTSW	19	6509821	missense	probably damaging	1.00
R4890:Nrxn2	UTSW	19	6448278	missense	possibly damaging	0.90
R5052:Nrxn2	UTSW	19	6455204	missense	probably damaging	1.00
R5311:Nrxn2	UTSW	19	6531398	missense	probably benign	0.05
R5330:Nrxn2	UTSW	19	6490081	missense	probably damaging	0.96
R5331:Nrxn2	UTSW	19	6490081	missense	probably damaging	0.96
R5530:Nrxn2	UTSW	19	6498367	missense	possibly damaging	0.93
R5556:Nrxn2	UTSW	19	6490091	missense	probably damaging	1.00
R5763:Nrxn2	UTSW	19	6531339	missense	probably benign	0.15
R5829:Nrxn2	UTSW	19	6490849	missense	probably benign	0.03
R5988:Nrxn2	UTSW	19	6492871	missense	possibly damaging	0.83
R6003:Nrxn2	UTSW	19	6498328	missense	possibly damaging	0.93
R6032:Nrxn2	UTSW	19	6517132	missense	probably damaging	1.00
R6032:Nrxn2	UTSW	19	6517132	missense	probably damaging	1.00
R6288:Nrxn2	UTSW	19	6490561	missense	probably damaging	1.00
R6334:Nrxn2	UTSW	19	6531292	unclassified	probably null
R6373:Nrxn2	UTSW	19	6509830	missense	probably damaging	1.00
R6397:Nrxn2	UTSW	19	6532122	missense	probably damaging	1.00
R6669:Nrxn2	UTSW	19	6481191	missense	probably damaging	1.00
R6980:Nrxn2	UTSW	19	6450579	missense	probably benign	0.04
R6985:Nrxn2	UTSW	19	6481245	missense	probably damaging	1.00
R7184:Nrxn2	UTSW	19	6490552	missense	probably damaging	1.00
R7361:Nrxn2	UTSW	19	6517082	missense	probably benign	0.00
R7576:Nrxn2	UTSW	19	6531510	nonsense	probably null
R7604:Nrxn2	UTSW	19	6531961	missense	probably damaging	1.00
R7631:Nrxn2	UTSW	19	6481795	missense	possibly damaging	0.83
R7768:Nrxn2	UTSW	19	6481379	missense	possibly damaging	0.69
R7805:Nrxn2	UTSW	19	6531706	missense	probably benign
R7896:Nrxn2	UTSW	19	6532053	missense	possibly damaging	0.89
R7979:Nrxn2	UTSW	19	6532053	missense	possibly damaging	0.89
R7998:Nrxn2	UTSW	19	6509875	missense	not run
X0022:Nrxn2	UTSW	19	6509917	missense	probably damaging	1.00
Z1177:Nrxn2	UTSW	19	6498517	missense	not run

Posted On

2014-02-04