Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00490:Nrxn2'

332212

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 #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

6468786-6583247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6523623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 514 (H514Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166] [ENSMUST00000137821]

AlphaFold

E9Q7X7

Predicted Effect

probably benign
Transcript: ENSMUST00000077182
AA Change: H530Q

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: H530Q

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: ENSMUST00000113461
AA Change: H514Q

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: H514Q

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

possibly damaging
Transcript: ENSMUST00000113462
AA Change: H538Q

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: H538Q

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

noncoding transcript
Transcript: ENSMUST00000124815

Predicted Effect

probably benign
Transcript: ENSMUST00000137166
AA Change: H545Q

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: H545Q

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

probably benign
Transcript: ENSMUST00000137821

SMART Domains

Protein: ENSMUSP00000122920
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
EGF	6	43	1.73e1	SMART
low complexity region	59	67	N/A	INTRINSIC
LamG	101	212	1.63e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157014

Predicted Effect

probably benign
Transcript: ENSMUST00000155158

SMART Domains

Protein: ENSMUSP00000118878
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
Blast:LamG	2	45	8e-7	BLAST
LamG	71	205	1.18e-33	SMART

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 129,905,665 (GRCm39)	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,171,172 (GRCm39)	M291T	probably benign	Het
Coq8b	C	A	7: 26,956,902 (GRCm39)	H518Q	probably benign	Het
Crebrf	A	G	17: 26,962,067 (GRCm39)	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,287,515 (GRCm39)	S244T	possibly damaging	Het
Ddr2	A	T	1: 169,832,763 (GRCm39)	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,691,164 (GRCm39)	D251E	probably damaging	Het
Fam210a	G	T	18: 68,401,983 (GRCm39)	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,364,572 (GRCm39)	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,221,337 (GRCm39)	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,731,526 (GRCm39)	K335N	probably benign	Het
Loxhd1	A	T	18: 77,518,770 (GRCm39)	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,747,413 (GRCm39)	L484P	probably damaging	Het
Myt1l	T	A	12: 29,877,423 (GRCm39)	V358E	unknown	Het
Mzt1	A	G	14: 99,278,106 (GRCm39)		probably benign	Het
Nup214	G	A	2: 31,923,991 (GRCm39)	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,442,969 (GRCm39)	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,239,198 (GRCm39)		probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Smcr8	T	A	11: 60,669,458 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,740,621 (GRCm39)	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,031,861 (GRCm39)	P689L	probably damaging	Het
Tep1	C	A	14: 51,070,930 (GRCm39)	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,845,048 (GRCm39)	E8G	probably benign	Het
Tmem236	A	G	2: 14,224,189 (GRCm39)	Y326C	probably damaging	Het
Trip4	C	T	9: 65,740,692 (GRCm39)	G573R	probably damaging	Het
Trrap	C	T	5: 144,762,035 (GRCm39)	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,816 (GRCm39)	N435S	probably damaging	Het
Ube3a	A	G	7: 58,921,858 (GRCm39)	N77D	probably damaging	Het
Uvrag	A	T	7: 98,628,948 (GRCm39)	I373N	probably damaging	Het

Other mutations in Nrxn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03288:Nrxn2	APN	19	6,540,726 (GRCm39)	missense	probably damaging	1.00
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

2015-08-05