Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Nrxn2'

34816

Institutional Source

Beutler Lab

Gene Symbol

Nrxn2

Ensembl Gene

ENSMUSG00000033768

Gene Name

neurexin II

Synonyms

6430591O13Rik, neurexin II beta, neurexin II alpha

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6418731-6544169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6490698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 894 (I894V)

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: I886V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: I886V

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: I861V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: I861V

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: I894V

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: I894V

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: I901V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: I901V

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

Meta Mutation Damage Score

0.1289

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Nrxn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Nrxn2	APN	19	6473593	missense	possibly damaging	0.84
IGL01020:Nrxn2	APN	19	6493443	missense	probably benign	0.02
IGL01064:Nrxn2	APN	19	6517053	missense	probably damaging	0.97
IGL01561:Nrxn2	APN	19	6490142	missense	probably damaging	1.00
IGL01759:Nrxn2	APN	19	6509929	missense	probably damaging	1.00
IGL02071:Nrxn2	APN	19	6481753	missense	probably damaging	1.00
IGL02085:Nrxn2	APN	19	6492868	missense	possibly damaging	0.83
IGL02132:Nrxn2	APN	19	6472276	missense	probably damaging	1.00
IGL02476:Nrxn2	APN	19	6454985	missense	probably damaging	1.00
IGL02605:Nrxn2	APN	19	6450580	missense	probably benign	0.02
IGL03123:Nrxn2	APN	19	6481737	missense	probably damaging	0.98
IGL03288:Nrxn2	APN	19	6490696	missense	probably damaging	1.00
PIT4687001:Nrxn2	UTSW	19	6481308	missense	probably benign	0.06
R0019:Nrxn2	UTSW	19	6509957	splice site	probably benign
R0305:Nrxn2	UTSW	19	6519283	missense	probably damaging	1.00
R0453:Nrxn2	UTSW	19	6491521	missense	probably damaging	1.00
R0512:Nrxn2	UTSW	19	6517198	missense	probably damaging	1.00
R0539:Nrxn2	UTSW	19	6493404	missense	probably damaging	0.99
R0571:Nrxn2	UTSW	19	6473533	missense	probably damaging	1.00
R1373:Nrxn2	UTSW	19	6472301	missense	probably damaging	1.00
R1434:Nrxn2	UTSW	19	6443612	splice site	probably null
R1454:Nrxn2	UTSW	19	6481446	missense	probably damaging	0.98
R1671:Nrxn2	UTSW	19	6473750	missense	probably damaging	1.00
R1692:Nrxn2	UTSW	19	6519268	missense	probably damaging	1.00
R1858:Nrxn2	UTSW	19	6488795	missense	probably benign	0.01
R1859:Nrxn2	UTSW	19	6488795	missense	probably benign	0.01
R2153:Nrxn2	UTSW	19	6504914	missense	probably damaging	1.00
R2196:Nrxn2	UTSW	19	6490109	missense	probably damaging	1.00
R2209:Nrxn2	UTSW	19	6493007	missense	probably benign	0.01
R2278:Nrxn2	UTSW	19	6481853	missense	probably damaging	1.00
R2441:Nrxn2	UTSW	19	6428301	missense	probably damaging	1.00
R3897:Nrxn2	UTSW	19	6519257	missense	probably damaging	1.00
R3943:Nrxn2	UTSW	19	6473335	missense	probably damaging	1.00
R4091:Nrxn2	UTSW	19	6473414	missense	probably damaging	1.00
R4162:Nrxn2	UTSW	19	6532143	missense	probably damaging	1.00
R4164:Nrxn2	UTSW	19	6532143	missense	probably damaging	1.00
R4495:Nrxn2	UTSW	19	6531399	missense	probably benign	0.05
R4599:Nrxn2	UTSW	19	6455252	missense	probably damaging	0.98
R4735:Nrxn2	UTSW	19	6498454	missense	possibly damaging	0.86
R4757:Nrxn2	UTSW	19	6509821	missense	probably damaging	1.00
R4890:Nrxn2	UTSW	19	6448278	missense	possibly damaging	0.90
R5052:Nrxn2	UTSW	19	6455204	missense	probably damaging	1.00
R5311:Nrxn2	UTSW	19	6531398	missense	probably benign	0.05
R5330:Nrxn2	UTSW	19	6490081	missense	probably damaging	0.96
R5331:Nrxn2	UTSW	19	6490081	missense	probably damaging	0.96
R5530:Nrxn2	UTSW	19	6498367	missense	possibly damaging	0.93
R5556:Nrxn2	UTSW	19	6490091	missense	probably damaging	1.00
R5763:Nrxn2	UTSW	19	6531339	missense	probably benign	0.15
R5829:Nrxn2	UTSW	19	6490849	missense	probably benign	0.03
R5988:Nrxn2	UTSW	19	6492871	missense	possibly damaging	0.83
R6003:Nrxn2	UTSW	19	6498328	missense	possibly damaging	0.93
R6032:Nrxn2	UTSW	19	6517132	missense	probably damaging	1.00
R6032:Nrxn2	UTSW	19	6517132	missense	probably damaging	1.00
R6288:Nrxn2	UTSW	19	6490561	missense	probably damaging	1.00
R6334:Nrxn2	UTSW	19	6531292	splice site	probably null
R6373:Nrxn2	UTSW	19	6509830	missense	probably damaging	1.00
R6397:Nrxn2	UTSW	19	6532122	missense	probably damaging	1.00
R6669:Nrxn2	UTSW	19	6481191	missense	probably damaging	1.00
R6980:Nrxn2	UTSW	19	6450579	missense	probably benign	0.04
R6985:Nrxn2	UTSW	19	6481245	missense	probably damaging	1.00
R7184:Nrxn2	UTSW	19	6490552	missense	probably damaging	1.00
R7361:Nrxn2	UTSW	19	6517082	missense	probably benign	0.00
R7576:Nrxn2	UTSW	19	6531510	nonsense	probably null
R7604:Nrxn2	UTSW	19	6531961	missense	probably damaging	1.00
R7631:Nrxn2	UTSW	19	6481795	missense	possibly damaging	0.83
R7768:Nrxn2	UTSW	19	6481379	missense	possibly damaging	0.69
R7805:Nrxn2	UTSW	19	6531706	missense	probably benign
R7896:Nrxn2	UTSW	19	6532053	missense	possibly damaging	0.89
R7998:Nrxn2	UTSW	19	6509875	missense	probably damaging	0.98
R8383:Nrxn2	UTSW	19	6472313	missense	probably damaging	1.00
R8505:Nrxn2	UTSW	19	6490133	missense	probably damaging	1.00
R8843:Nrxn2	UTSW	19	6505027	missense	probably damaging	1.00
R8881:Nrxn2	UTSW	19	6504890	missense	probably benign	0.07
R9086:Nrxn2	UTSW	19	6490078	missense	probably damaging	1.00
R9139:Nrxn2	UTSW	19	6448269	missense	probably benign	0.02
R9420:Nrxn2	UTSW	19	6531901	missense	probably benign	0.40
R9445:Nrxn2	UTSW	19	6472418	missense	probably damaging	0.99
R9564:Nrxn2	UTSW	19	6509857	missense	probably damaging	1.00
R9609:Nrxn2	UTSW	19	6490173	missense	probably damaging	1.00
R9708:Nrxn2	UTSW	19	6531852	missense	probably benign	0.00
R9794:Nrxn2	UTSW	19	6517034	missense	possibly damaging	0.48
X0022:Nrxn2	UTSW	19	6509917	missense	probably damaging	1.00
Z1177:Nrxn2	UTSW	19	6498517	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCTTTTCCAGGAAGACGAGGCCC -3'
(R):5'- GTTGCCGTTGCCTGAGTTGAAC -3'

Sequencing Primer
(F):5'- GAAGACGAGGCCCTGTTC -3'
(R):5'- TTGAACAGCAGAAGTCCATCTGG -3'

Posted On

2013-05-09