Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03288:Nrxn2'

415804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrxn2

Ensembl Gene

ENSMUSG00000033768

Gene Name

neurexin II

Synonyms

neurexin II alpha, neurexin II beta, 6430591O13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03288

Quality Score

Status

Chromosome

Chromosomal Location

6468786-6583247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6540726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 893 (D893G)

Ref Sequence

ENSEMBL: ENSMUSP00000109089 (fasta)

Gene Model

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

AlphaFold

E9Q7X7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077182
AA Change: D885G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: D885G

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

probably benign
Transcript: ENSMUST00000113461
AA Change: D860G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: D860G

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: D893G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: D893G

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

probably benign
Transcript: ENSMUST00000137166
AA Change: D900G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: D900G

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,761,959 (GRCm39)	K1589R	probably benign	Het
Armc3	T	C	2: 19,240,293 (GRCm39)	F17L	probably damaging	Het
Ccdc17	T	A	4: 116,456,626 (GRCm39)	L465H	probably damaging	Het
Cdh9	A	T	15: 16,856,135 (GRCm39)	D725V	probably damaging	Het
Cert1	T	A	13: 96,770,700 (GRCm39)	D536E	probably benign	Het
Chl1	C	T	6: 103,652,058 (GRCm39)	R309C	probably damaging	Het
Dbt	T	A	3: 116,341,847 (GRCm39)	*483K	probably null	Het
Ddx46	A	G	13: 55,785,907 (GRCm39)	D29G	unknown	Het
Des	T	C	1: 75,338,985 (GRCm39)	I222T	possibly damaging	Het
Dnah8	A	G	17: 30,891,323 (GRCm39)	N776S	probably benign	Het
Fbn1	A	T	2: 125,145,103 (GRCm39)	L2712Q	probably benign	Het
Glb1l3	A	C	9: 26,729,601 (GRCm39)	V622G	probably damaging	Het
Grin2a	T	C	16: 9,487,704 (GRCm39)	D398G	possibly damaging	Het
Itgb3	T	C	11: 104,524,293 (GRCm39)	M143T	probably damaging	Het
Lama2	G	A	10: 27,245,047 (GRCm39)	R245C	probably damaging	Het
Lgals9	G	A	11: 78,875,626 (GRCm39)	A6V	probably benign	Het
Lman2l	A	T	1: 36,482,628 (GRCm39)	Y83N	probably damaging	Het
Lrp2	T	A	2: 69,256,383 (GRCm39)	T4586S	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Myo18b	A	C	5: 112,937,863 (GRCm39)	L1754R	probably damaging	Het
Myom2	T	C	8: 15,172,679 (GRCm39)	L1202S	probably damaging	Het
Nav3	T	C	10: 109,594,878 (GRCm39)	E1441G	probably damaging	Het
Nme8	T	C	13: 19,880,776 (GRCm39)	E60G	possibly damaging	Het
Npffr2	G	T	5: 89,731,020 (GRCm39)	A317S	probably damaging	Het
Nup153	T	C	13: 46,858,681 (GRCm39)	E410G	possibly damaging	Het
Or11h7	T	C	14: 50,890,832 (GRCm39)	I46T	possibly damaging	Het
Or7e178	A	G	9: 20,247,207 (GRCm39)		probably null	Het
Pcdhb10	A	G	18: 37,546,358 (GRCm39)	D478G	probably damaging	Het
Phf13	T	C	4: 152,076,826 (GRCm39)	D122G	possibly damaging	Het
Pkhd1	A	T	1: 20,271,243 (GRCm39)	H3103Q	probably benign	Het
Prr11	A	C	11: 86,987,787 (GRCm39)		probably null	Het
Rac3	C	T	11: 120,614,092 (GRCm39)	T118M	possibly damaging	Het
Rad54b	T	C	4: 11,569,833 (GRCm39)	S50P	possibly damaging	Het
Rp1	T	C	1: 4,419,747 (GRCm39)	Q455R	possibly damaging	Het
Semp2l1	T	A	1: 32,584,841 (GRCm39)	E356D	probably benign	Het
Sorl1	T	C	9: 41,944,858 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,147,827 (GRCm39)	I858F	possibly damaging	Het
Stxbp5	A	T	10: 9,742,447 (GRCm39)		probably null	Het
Svep1	A	C	4: 58,116,532 (GRCm39)	V906G	probably benign	Het
Tlr4	A	G	4: 66,757,990 (GRCm39)	E261G	probably damaging	Het
Zfp704	C	T	3: 9,504,951 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,580,996 (GRCm39)		probably benign	Het

Other mutations in Nrxn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Nrxn2	APN	19	6,523,623 (GRCm39)	missense	possibly damaging	0.84
IGL01020:Nrxn2	APN	19	6,543,473 (GRCm39)	missense	probably benign	0.02
IGL01064:Nrxn2	APN	19	6,567,083 (GRCm39)	missense	probably damaging	0.97
IGL01561:Nrxn2	APN	19	6,540,172 (GRCm39)	missense	probably damaging	1.00
IGL01759:Nrxn2	APN	19	6,559,959 (GRCm39)	missense	probably damaging	1.00
IGL02071:Nrxn2	APN	19	6,531,783 (GRCm39)	missense	probably damaging	1.00
IGL02085:Nrxn2	APN	19	6,542,898 (GRCm39)	missense	possibly damaging	0.83
IGL02132:Nrxn2	APN	19	6,522,306 (GRCm39)	missense	probably damaging	1.00
IGL02476:Nrxn2	APN	19	6,505,015 (GRCm39)	missense	probably damaging	1.00
IGL02605:Nrxn2	APN	19	6,500,610 (GRCm39)	missense	probably benign	0.02
IGL03123:Nrxn2	APN	19	6,531,767 (GRCm39)	missense	probably damaging	0.98
PIT4687001:Nrxn2	UTSW	19	6,531,338 (GRCm39)	missense	probably benign	0.06
R0019:Nrxn2	UTSW	19	6,559,987 (GRCm39)	splice site	probably benign
R0257:Nrxn2	UTSW	19	6,540,728 (GRCm39)	missense	possibly damaging	0.81
R0305:Nrxn2	UTSW	19	6,569,313 (GRCm39)	missense	probably damaging	1.00
R0453:Nrxn2	UTSW	19	6,541,551 (GRCm39)	missense	probably damaging	1.00
R0512:Nrxn2	UTSW	19	6,567,228 (GRCm39)	missense	probably damaging	1.00
R0539:Nrxn2	UTSW	19	6,543,434 (GRCm39)	missense	probably damaging	0.99
R0571:Nrxn2	UTSW	19	6,523,563 (GRCm39)	missense	probably damaging	1.00
R1373:Nrxn2	UTSW	19	6,522,331 (GRCm39)	missense	probably damaging	1.00
R1434:Nrxn2	UTSW	19	6,493,642 (GRCm39)	splice site	probably null
R1454:Nrxn2	UTSW	19	6,531,476 (GRCm39)	missense	probably damaging	0.98
R1671:Nrxn2	UTSW	19	6,523,780 (GRCm39)	missense	probably damaging	1.00
R1692:Nrxn2	UTSW	19	6,569,298 (GRCm39)	missense	probably damaging	1.00
R1858:Nrxn2	UTSW	19	6,538,825 (GRCm39)	missense	probably benign	0.01
R1859:Nrxn2	UTSW	19	6,538,825 (GRCm39)	missense	probably benign	0.01
R2153:Nrxn2	UTSW	19	6,554,944 (GRCm39)	missense	probably damaging	1.00
R2196:Nrxn2	UTSW	19	6,540,139 (GRCm39)	missense	probably damaging	1.00
R2209:Nrxn2	UTSW	19	6,543,037 (GRCm39)	missense	probably benign	0.01
R2278:Nrxn2	UTSW	19	6,531,883 (GRCm39)	missense	probably damaging	1.00
R2441:Nrxn2	UTSW	19	6,478,331 (GRCm39)	missense	probably damaging	1.00
R3897:Nrxn2	UTSW	19	6,569,287 (GRCm39)	missense	probably damaging	1.00
R3943:Nrxn2	UTSW	19	6,523,365 (GRCm39)	missense	probably damaging	1.00
R4091:Nrxn2	UTSW	19	6,523,444 (GRCm39)	missense	probably damaging	1.00
R4162:Nrxn2	UTSW	19	6,582,173 (GRCm39)	missense	probably damaging	1.00
R4164:Nrxn2	UTSW	19	6,582,173 (GRCm39)	missense	probably damaging	1.00
R4495:Nrxn2	UTSW	19	6,581,429 (GRCm39)	missense	probably benign	0.05
R4599:Nrxn2	UTSW	19	6,505,282 (GRCm39)	missense	probably damaging	0.98
R4735:Nrxn2	UTSW	19	6,548,484 (GRCm39)	missense	possibly damaging	0.86
R4757:Nrxn2	UTSW	19	6,559,851 (GRCm39)	missense	probably damaging	1.00
R4890:Nrxn2	UTSW	19	6,498,308 (GRCm39)	missense	possibly damaging	0.90
R5052:Nrxn2	UTSW	19	6,505,234 (GRCm39)	missense	probably damaging	1.00
R5311:Nrxn2	UTSW	19	6,581,428 (GRCm39)	missense	probably benign	0.05
R5330:Nrxn2	UTSW	19	6,540,111 (GRCm39)	missense	probably damaging	0.96
R5331:Nrxn2	UTSW	19	6,540,111 (GRCm39)	missense	probably damaging	0.96
R5530:Nrxn2	UTSW	19	6,548,397 (GRCm39)	missense	possibly damaging	0.93
R5556:Nrxn2	UTSW	19	6,540,121 (GRCm39)	missense	probably damaging	1.00
R5763:Nrxn2	UTSW	19	6,581,369 (GRCm39)	missense	probably benign	0.15
R5829:Nrxn2	UTSW	19	6,540,879 (GRCm39)	missense	probably benign	0.03
R5988:Nrxn2	UTSW	19	6,542,901 (GRCm39)	missense	possibly damaging	0.83
R6003:Nrxn2	UTSW	19	6,548,358 (GRCm39)	missense	possibly damaging	0.93
R6032:Nrxn2	UTSW	19	6,567,162 (GRCm39)	missense	probably damaging	1.00
R6032:Nrxn2	UTSW	19	6,567,162 (GRCm39)	missense	probably damaging	1.00
R6288:Nrxn2	UTSW	19	6,540,591 (GRCm39)	missense	probably damaging	1.00
R6334:Nrxn2	UTSW	19	6,581,322 (GRCm39)	splice site	probably null
R6373:Nrxn2	UTSW	19	6,559,860 (GRCm39)	missense	probably damaging	1.00
R6397:Nrxn2	UTSW	19	6,582,152 (GRCm39)	missense	probably damaging	1.00
R6669:Nrxn2	UTSW	19	6,531,221 (GRCm39)	missense	probably damaging	1.00
R6980:Nrxn2	UTSW	19	6,500,609 (GRCm39)	missense	probably benign	0.04
R6985:Nrxn2	UTSW	19	6,531,275 (GRCm39)	missense	probably damaging	1.00
R7184:Nrxn2	UTSW	19	6,540,582 (GRCm39)	missense	probably damaging	1.00
R7361:Nrxn2	UTSW	19	6,567,112 (GRCm39)	missense	probably benign	0.00
R7576:Nrxn2	UTSW	19	6,581,540 (GRCm39)	nonsense	probably null
R7604:Nrxn2	UTSW	19	6,581,991 (GRCm39)	missense	probably damaging	1.00
R7631:Nrxn2	UTSW	19	6,531,825 (GRCm39)	missense	possibly damaging	0.83
R7768:Nrxn2	UTSW	19	6,531,409 (GRCm39)	missense	possibly damaging	0.69
R7805:Nrxn2	UTSW	19	6,581,736 (GRCm39)	missense	probably benign
R7896:Nrxn2	UTSW	19	6,582,083 (GRCm39)	missense	possibly damaging	0.89
R7998:Nrxn2	UTSW	19	6,559,905 (GRCm39)	missense	probably damaging	0.98
R8383:Nrxn2	UTSW	19	6,522,343 (GRCm39)	missense	probably damaging	1.00
R8505:Nrxn2	UTSW	19	6,540,163 (GRCm39)	missense	probably damaging	1.00
R8843:Nrxn2	UTSW	19	6,555,057 (GRCm39)	missense	probably damaging	1.00
R8881:Nrxn2	UTSW	19	6,554,920 (GRCm39)	missense	probably benign	0.07
R9086:Nrxn2	UTSW	19	6,540,108 (GRCm39)	missense	probably damaging	1.00
R9139:Nrxn2	UTSW	19	6,498,299 (GRCm39)	missense	probably benign	0.02
R9420:Nrxn2	UTSW	19	6,581,931 (GRCm39)	missense	probably benign	0.40
R9445:Nrxn2	UTSW	19	6,522,448 (GRCm39)	missense	probably damaging	0.99
R9564:Nrxn2	UTSW	19	6,559,887 (GRCm39)	missense	probably damaging	1.00
R9609:Nrxn2	UTSW	19	6,540,203 (GRCm39)	missense	probably damaging	1.00
R9708:Nrxn2	UTSW	19	6,581,882 (GRCm39)	missense	probably benign	0.00
R9794:Nrxn2	UTSW	19	6,567,064 (GRCm39)	missense	possibly damaging	0.48
X0022:Nrxn2	UTSW	19	6,559,947 (GRCm39)	missense	probably damaging	1.00
Z1177:Nrxn2	UTSW	19	6,548,547 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02