Mutagenetix > Incidental Mutation

Incidental Mutation 'R4162:Nrxn2'

321584

Institutional Source

Beutler Lab

Gene Symbol

Nrxn2

Ensembl Gene

ENSMUSG00000033768

Gene Name

neurexin II

Synonyms

neurexin II alpha, neurexin II beta, 6430591O13Rik

MMRRC Submission

041005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6468786-6583247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6582173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 660 (V660I)

Ref Sequence

ENSEMBL: ENSMUSP00000109085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113451] [ENSMUST00000113458] [ENSMUST00000113459] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]

AlphaFold

E9Q7X7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077182
AA Change: V1503I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: V1503I

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: ENSMUST00000113451

SMART Domains

Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	95	525	2e-26	PFAM
Pfam:MFS_1	128	484	7.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113458
AA Change: V660I

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

SMART Domains

Protein: ENSMUSP00000109085
Gene: ENSMUSG00000033768
AA Change: V660I

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 benign
Transcript: ENSMUST00000113459

SMART Domains

Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768

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: V1640I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: V1640I

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: V1703I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: V1703I

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: ENSMUST00000129698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137166
AA Change: V1710I

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: V1710I

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: ENSMUST00000137184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149574

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (38/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	A	10: 83,342,518 (GRCm39)	I431F	possibly damaging	Het
Atrn	A	G	2: 130,836,148 (GRCm39)		probably benign	Het
Cep57	C	T	9: 13,723,929 (GRCm39)		probably null	Het
Cgas	G	A	9: 78,341,686 (GRCm39)	R364C	probably damaging	Het
Cybc1	T	C	11: 121,115,492 (GRCm39)	D109G	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gli3	G	T	13: 15,899,700 (GRCm39)	S1029I	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5592	A	G	7: 40,867,202 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,507,042 (GRCm39)	K478E	probably damaging	Het
Il18	T	C	9: 50,490,712 (GRCm39)	S116P	probably damaging	Het
Itsn1	C	A	16: 91,649,790 (GRCm39)	P155T	probably benign	Het
Kdm5b	C	T	1: 134,552,899 (GRCm39)	P1292S	probably benign	Het
Mef2b	T	C	8: 70,618,961 (GRCm39)	F181S	probably damaging	Het
Mfn1	T	C	3: 32,617,147 (GRCm39)		probably benign	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Pank4	T	C	4: 155,064,051 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,540,068 (GRCm39)	E1075V	probably damaging	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Saxo5	C	T	8: 3,529,067 (GRCm39)	P214L	probably damaging	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,586 (GRCm39)	S2378P	probably damaging	Het
Thap12	C	T	7: 98,359,285 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,496 (GRCm39)	Y57H	probably damaging	Het
Ttc39c	A	G	18: 12,857,994 (GRCm39)		probably null	Het
Tubgcp3	C	T	8: 12,689,547 (GRCm39)	R573Q	possibly damaging	Het
Ush2a	A	C	1: 188,475,877 (GRCm39)	K2938T	probably benign	Het
Vasp	A	T	7: 18,993,397 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,683,619 (GRCm39)	T3686K	unknown	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
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
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'- ACGCCATGTACAAGTACCGC -3'
(R):5'- AAATCAACCCAGGGCTGTGAG -3'

Sequencing Primer
(F):5'- TGTACAAGTACCGCAACCG -3'
(R):5'- AGCCCCAGAGCTGACAGTG -3'

Posted On

2015-06-12