Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03123:Nrxn2'

410041

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 #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

6468786-6583247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6531767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 744 (T744A)

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: T736A

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

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: T736A

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 damaging
Transcript: ENSMUST00000113461
AA Change: T720A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: T720A

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: T744A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: T744A

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 damaging
Transcript: ENSMUST00000137166
AA Change: T751A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: T751A

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: ENSMUST00000140435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150792

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
Caprin2	G	T	6: 148,796,505 (GRCm39)	A36E	probably damaging	Het
Castor1	A	T	11: 4,170,278 (GRCm39)	T119S	probably damaging	Het
Dnase1l2	T	C	17: 24,661,226 (GRCm39)	M28V	possibly damaging	Het
Eci1	T	A	17: 24,655,300 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,855 (GRCm39)	S178T	probably damaging	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Exoc3l4	A	G	12: 111,388,547 (GRCm39)	E12G	probably damaging	Het
Frmd7	G	A	X: 49,984,835 (GRCm39)	T445I	probably benign	Het
Golga4	A	G	9: 118,365,953 (GRCm39)	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,772,812 (GRCm39)	Y57H	probably damaging	Het
Hnmt	T	C	2: 23,909,171 (GRCm39)	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Htra3	C	T	5: 35,823,477 (GRCm39)	V280I	probably damaging	Het
Impg2	G	T	16: 56,087,485 (GRCm39)	E992D	probably damaging	Het
Kctd4	T	C	14: 76,200,418 (GRCm39)	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,942,544 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,759,652 (GRCm39)	T1202M	unknown	Het
Lrp11	A	T	10: 7,478,689 (GRCm39)	D326V	probably damaging	Het
Lrrcc1	A	T	3: 14,601,144 (GRCm39)	I59F	probably damaging	Het
Lyg2	G	A	1: 37,954,845 (GRCm39)		probably benign	Het
Med16	A	G	10: 79,732,667 (GRCm39)	V699A	probably damaging	Het
Myo18b	G	T	5: 113,022,804 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,812 (GRCm39)	I126N	probably damaging	Het
Oser1	A	T	2: 163,253,309 (GRCm39)		probably benign	Het
Pcdhgc5	T	C	18: 37,952,966 (GRCm39)	V80A	probably benign	Het
Pi4ka	C	T	16: 17,100,539 (GRCm39)	G1857D	possibly damaging	Het
Pitpnc1	C	T	11: 107,228,237 (GRCm39)		probably null	Het
Pofut2	A	G	10: 77,102,844 (GRCm39)	E137G	probably benign	Het
Rgsl1	A	T	1: 153,701,687 (GRCm39)	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,465,050 (GRCm39)	I314T	probably benign	Het
Rps2	C	T	17: 24,939,263 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,224 (GRCm39)	K1148E	probably damaging	Het
Slc45a2	A	G	15: 11,012,741 (GRCm39)	D248G	probably benign	Het
Slit2	G	T	5: 48,368,681 (GRCm39)	R352L	probably damaging	Het
Smg1	A	G	7: 117,756,404 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 177,994,272 (GRCm39)	C1217*	probably null	Het
Tbcb	A	G	7: 29,926,261 (GRCm39)		probably benign	Het
Tinf2	T	C	14: 55,918,346 (GRCm39)	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,515,218 (GRCm39)	D332G	possibly damaging	Het
Tram1	A	G	1: 13,659,829 (GRCm39)	F40L	probably benign	Het
Trank1	A	T	9: 111,196,475 (GRCm39)	I1500L	probably damaging	Het
Wdfy4	G	A	14: 32,884,827 (GRCm39)	P25L	probably benign	Het
Wnt5a	G	T	14: 28,244,882 (GRCm39)	Q376H	probably damaging	Het
Zfp526	A	C	7: 24,924,049 (GRCm39)	T103P	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
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

2016-08-02