Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Nrxn2'

249802

Institutional Source

Beutler Lab

Gene Symbol

Nrxn2

Ensembl Gene

ENSMUSG00000033768

Gene Name

neurexin II

Synonyms

neurexin II alpha, neurexin II beta, 6430591O13Rik

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2441 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

6468786-6583247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6478331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 85 (G85W)

Ref Sequence

ENSEMBL: ENSMUSP00000119762 (fasta)

Gene Model

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

AlphaFold

E9Q7X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077182
AA Change: G85W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: G85W

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: G85W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: G85W

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 benign
Transcript: ENSMUST00000113462
AA Change: G85W

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: G85W

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: ENSMUST00000128272

Predicted Effect

probably damaging
Transcript: ENSMUST00000137166
AA Change: G85W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: G85W

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

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Boc	A	G	16: 44,308,986 (GRCm39)	V842A	probably damaging	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Erich6	A	T	3: 58,526,232 (GRCm39)	L590Q	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tbx15	T	G	3: 99,259,827 (GRCm39)	M566R	probably damaging	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Tsen34	A	T	7: 3,697,994 (GRCm39)	K87N	possibly damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Vwa3b	T	C	1: 37,182,150 (GRCm39)		probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAGTCCATGGCACTGTG -3'
(R):5'- CTGAGCGTGAGTGCAGATAG -3'

Sequencing Primer
(F):5'- AGTCCATGGCACTGTGAATCG -3'
(R):5'- AGTGCAGATAGGCGCACGTC -3'

Posted On

2014-11-12