Mutagenetix > Incidental Mutations

Incidental Mutation 'R5910:Nrxn1'

460962

Institutional Source

Beutler Lab

Gene Symbol

Nrxn1

Ensembl Gene

ENSMUSG00000024109

Gene Name

neurexin I

Synonyms

neurexin I beta, alpha-latrotoxin receptor (calcium-dependent), A230068P09Rik, neurexin I alpha, neurexin I alpha, neurexin I beta, 1700062G21Rik, 9330127H16Rik, neurexin I alpha, neurexin I beta

MMRRC Submission

044107-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90033631-91093071 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 90704318 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 294 (Y294*)

Ref Sequence

ENSEMBL: ENSMUSP00000133491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054059] [ENSMUST00000072671] [ENSMUST00000160800] [ENSMUST00000160844] [ENSMUST00000161402] [ENSMUST00000174331]

Predicted Effect

probably null
Transcript: ENSMUST00000054059
AA Change: Y294*

SMART Domains

Protein: ENSMUSP00000057294
Gene: ENSMUSG00000024109
AA Change: Y294*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	304	438	2.3e-36	SMART
LamG	492	644	2.74e-43	SMART
EGF	671	705	1.58e-3	SMART
LamG	730	869	7.27e-25	SMART
LamG	917	1053	8.46e-35	SMART
EGF	1078	1112	1.87e1	SMART
LamG	1140	1297	7.74e-20	SMART
low complexity region	1324	1355	N/A	INTRINSIC
low complexity region	1426	1441	N/A	INTRINSIC
4.1m	1444	1462	1.19e-6	SMART
low complexity region	1481	1493	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000072671
AA Change: Y294*

SMART Domains

Protein: ENSMUSP00000072458
Gene: ENSMUSG00000024109
AA Change: Y294*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	304	438	2.3e-36	SMART
LamG	492	644	2.74e-43	SMART
EGF	671	705	1.58e-3	SMART
LamG	730	869	7.27e-25	SMART
LamG	917	1053	8.46e-35	SMART
EGF	1078	1112	1.87e1	SMART
LamG	1140	1297	7.74e-20	SMART
low complexity region	1324	1355	N/A	INTRINSIC
low complexity region	1423	1438	N/A	INTRINSIC
4.1m	1441	1459	1.19e-6	SMART
low complexity region	1478	1490	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160467

Predicted Effect

probably null
Transcript: ENSMUST00000160800
AA Change: Y290*

SMART Domains

Protein: ENSMUSP00000124561
Gene: ENSMUSG00000024109
AA Change: Y290*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	300	434	2.3e-36	SMART
LamG	488	640	2.74e-43	SMART
EGF	667	701	1.58e-3	SMART
LamG	726	865	7.27e-25	SMART
LamG	913	1049	8.46e-35	SMART
EGF	1074	1108	1.87e1	SMART
LamG	1136	1293	7.74e-20	SMART
low complexity region	1320	1351	N/A	INTRINSIC
low complexity region	1422	1437	N/A	INTRINSIC
4.1m	1440	1458	1.19e-6	SMART
low complexity region	1477	1489	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160844
AA Change: Y294*

SMART Domains

Protein: ENSMUSP00000125407
Gene: ENSMUSG00000024109
AA Change: Y294*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	304	446	1.24e-32	SMART
LamG	500	652	2.74e-43	SMART
EGF	679	713	1.58e-3	SMART
LamG	738	877	7.27e-25	SMART
LamG	925	1061	8.46e-35	SMART
EGF	1086	1120	1.87e1	SMART
LamG	1148	1305	7.74e-20	SMART
low complexity region	1332	1363	N/A	INTRINSIC
low complexity region	1434	1449	N/A	INTRINSIC
4.1m	1452	1470	1.19e-6	SMART
low complexity region	1489	1501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161102

Predicted Effect

probably null
Transcript: ENSMUST00000161402
AA Change: Y294*

SMART Domains

Protein: ENSMUSP00000124116
Gene: ENSMUSG00000024109
AA Change: Y294*

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	304	453	3.46e-31	SMART
LamG	507	659	2.74e-43	SMART
EGF	686	720	1.58e-3	SMART
LamG	745	884	7.27e-25	SMART
LamG	932	1068	8.46e-35	SMART
EGF	1093	1127	1.87e1	SMART
LamG	1155	1312	7.74e-20	SMART
low complexity region	1339	1370	N/A	INTRINSIC
low complexity region	1441	1456	N/A	INTRINSIC
4.1m	1459	1477	1.19e-6	SMART
low complexity region	1496	1508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161637

Predicted Effect

probably null
Transcript: ENSMUST00000174331
AA Change: Y294*

SMART Domains

Protein: ENSMUSP00000133491
Gene: ENSMUSG00000024109
AA Change: Y294*

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
LamG	50	192	2.29e-31	SMART
EGF	216	256	4.26e0	SMART
LamG	304	446	1.24e-32	SMART
LamG	500	652	2.74e-43	SMART
EGF	679	713	1.58e-3	SMART
LamG	738	877	7.27e-25	SMART
LamG	925	1061	8.46e-35	SMART
EGF	1086	1120	1.87e1	SMART
LamG	1148	1275	3.29e-23	SMART
low complexity region	1302	1333	N/A	INTRINSIC
low complexity region	1404	1419	N/A	INTRINSIC
4.1m	1422	1440	1.19e-6	SMART
low complexity region	1459	1471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197224

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

MGI Phenotype

FUNCTION: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are synaptic transmembrane receptors that bind endogenous ligands that include neuroligins, dystroglycan, and neurexophilins. Neurexin complexes are required for efficient neurotransmission and are involved in synaptogenesis. In vertebrates, alternate promoter usage results in multiple isoform classes, of which the alpha and beta classes are the best characterized. In humans, allelic variants in this gene are associated with Pitt-Hopkins-like syndrome-2, while deletions have been associated with autism and schizophrenia. Mouse knockouts display decreased spontaneous and evoked vesicle release resulting in impaired synaptic transmission. In addition, knockout mice show altered social approach, reduced social investigation, reduced locomotor activity, and in males, increased aggression. Alternative splicing and promoter usage result in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,668,117	N976D	probably damaging	Het
Adamts1	G	A	16: 85,802,149	R188W	probably benign	Het
Adcy4	A	T	14: 55,779,013	V327D	probably damaging	Het
Alg8	T	C	7: 97,390,286	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,693,217	S933G	probably benign	Het
Ap2a2	A	G	7: 141,598,778	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,366,615	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,635,020	Y310C	probably damaging	Het
Atm	A	T	9: 53,448,080	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,977,426	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,996,543		probably null	Het
Cdh23	A	G	10: 60,377,821	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,969,128	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,780,271	T778I	possibly damaging	Het
Cfap54	A	T	10: 93,065,181	N170K	probably damaging	Het
Cmya5	A	T	13: 93,092,643	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514	E846D	probably damaging	Het
Col5a1	A	G	2: 28,036,888	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,350,424	T680S	possibly damaging	Het
Dsp	T	C	13: 38,192,469	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,770,827		probably null	Het
Eif4e2	T	A	1: 87,220,974	Y64N	probably damaging	Het
Fcgbp	C	T	7: 28,085,503		probably benign	Het
Gm11639	A	T	11: 104,690,934	E34V	probably benign	Het
Gm7275	A	T	16: 48,073,463		noncoding transcript	Het
Grin3b	G	T	10: 79,973,021	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,895,252	S223F	possibly damaging	Het
Hbp1	T	C	12: 31,937,652	H183R	probably benign	Het
Hectd3	A	G	4: 117,002,134	M652V	probably benign	Het
Hist1h2bm	A	G	13: 21,722,300	N68S	probably benign	Het
Hmgxb4	T	C	8: 74,999,565	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,601,454	K271R	probably benign	Het
Ilvbl	A	T	10: 78,577,113	K156N	probably benign	Het
Iqce	A	T	5: 140,702,218		probably benign	Het
Itpr2	C	A	6: 146,329,571	V1194L	probably benign	Het
Kif18b	A	G	11: 102,913,544	F384L	probably benign	Het
Klf14	A	G	6: 30,957,839	Y287H	probably benign	Het
Klhl6	A	G	16: 19,957,094	M238T	probably benign	Het
Lbp	G	A	2: 158,324,557	V344I	probably benign	Het
Lrp12	T	C	15: 39,876,043		probably null	Het
Mapk7	T	A	11: 61,493,621	M1L	probably benign	Het
Muc5b	A	G	7: 141,861,311	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,496,078		probably null	Het
Nfxl1	T	C	5: 72,540,365	R347G	probably benign	Het
Npnt	C	A	3: 132,906,418	C231F	probably damaging	Het
Nrap	T	A	19: 56,342,311	H1070L	probably benign	Het
Olfr1261	A	G	2: 89,993,438	D15G	probably benign	Het
Olfr1412	T	C	1: 92,588,707	Y126H	probably damaging	Het
Otog	A	G	7: 46,298,598	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,096,028		probably null	Het
Pcdhb11	T	C	18: 37,423,743	F709L	probably benign	Het
Phf12	G	A	11: 78,027,398	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,746,870	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,743,497	L140P	probably benign	Het
Pou2f3	C	T	9: 43,134,474		probably null	Het
Prkcd	A	T	14: 30,595,981	N548K	probably benign	Het
Pygb	A	G	2: 150,815,700	D361G	probably benign	Het
Rpl9	A	T	5: 65,388,701		probably benign	Het
Rubcnl	A	T	14: 75,035,472	T211S	probably benign	Het
Rusc1	C	T	3: 89,091,720	G252S	probably benign	Het
Scnn1g	A	G	7: 121,738,095	T60A	probably damaging	Het
Sipa1l2	T	G	8: 125,491,684	T305P	probably benign	Het
Slc18b1	T	A	10: 23,824,667		probably benign	Het
Sp100	G	A	1: 85,681,140		probably null	Het
Tekt5	A	T	16: 10,387,153		probably null	Het
Tlnrd1	T	A	7: 83,884,485		probably benign	Het
Tpcn1	A	G	5: 120,547,397		probably benign	Het
Tpcn2	T	C	7: 145,260,982	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,527,745	K643E	probably damaging	Het
Trim33	T	C	3: 103,344,576	C914R	probably damaging	Het
Trip11	G	A	12: 101,883,479	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,135,589	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,433		probably benign	Het
Ube3b	T	A	5: 114,415,309	I914N	possibly damaging	Het
Usp24	A	G	4: 106,380,468	T1107A	probably damaging	Het
Usp40	A	T	1: 87,968,400	C811*	probably null	Het
Vps11	T	C	9: 44,359,135		probably null	Het
Wdr91	A	T	6: 34,891,487	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,196,232	S452*	probably null	Het

Other mutations in Nrxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Nrxn1	APN	17	90059474	critical splice donor site	probably null
IGL01644:Nrxn1	APN	17	90620873	missense	possibly damaging	0.94
IGL01820:Nrxn1	APN	17	90643103	missense	probably damaging	0.98
IGL01902:Nrxn1	APN	17	91088491	splice site	probably null
IGL02079:Nrxn1	APN	17	90643083	missense	probably damaging	0.99
IGL02089:Nrxn1	APN	17	91088401	missense	probably benign	0.01
IGL02133:Nrxn1	APN	17	90643243	missense	probably damaging	1.00
IGL02179:Nrxn1	APN	17	90630083	missense	probably damaging	0.99
IGL02199:Nrxn1	APN	17	90037258	missense	probably damaging	1.00
IGL02262:Nrxn1	APN	17	90704208	missense	probably damaging	1.00
IGL02941:Nrxn1	APN	17	90208383	missense	probably damaging	1.00
PIT4449001:Nrxn1	UTSW	17	90597579	missense	probably damaging	1.00
PIT4791001:Nrxn1	UTSW	17	90455503	intron	probably benign
R0123:Nrxn1	UTSW	17	90995487	splice site	probably null
R0212:Nrxn1	UTSW	17	90362758	unclassified	probably benign
R0277:Nrxn1	UTSW	17	90700742	critical splice donor site	probably null
R0323:Nrxn1	UTSW	17	90700742	critical splice donor site	probably null
R0384:Nrxn1	UTSW	17	90208347	missense	probably damaging	1.00
R0395:Nrxn1	UTSW	17	91088314	missense	possibly damaging	0.90
R0606:Nrxn1	UTSW	17	90565373	missense	probably damaging	1.00
R0616:Nrxn1	UTSW	17	90362857	missense	probably damaging	1.00
R0624:Nrxn1	UTSW	17	91088689	missense	unknown
R0633:Nrxn1	UTSW	17	90704181	missense	probably damaging	1.00
R0927:Nrxn1	UTSW	17	90037330	missense	probably damaging	1.00
R1035:Nrxn1	UTSW	17	90163874	missense	probably damaging	0.96
R1221:Nrxn1	UTSW	17	90643294	missense	probably damaging	0.97
R1403:Nrxn1	UTSW	17	90643053	missense	probably benign	0.11
R1403:Nrxn1	UTSW	17	90643053	missense	probably benign	0.11
R1691:Nrxn1	UTSW	17	90162289	missense	probably damaging	0.98
R1703:Nrxn1	UTSW	17	90208417	missense	probably damaging	1.00
R1709:Nrxn1	UTSW	17	90037187	missense	probably damaging	1.00
R1721:Nrxn1	UTSW	17	90162404	missense	probably damaging	1.00
R1792:Nrxn1	UTSW	17	90588824	missense	probably damaging	0.96
R1980:Nrxn1	UTSW	17	91088318	missense	probably benign	0.01
R2116:Nrxn1	UTSW	17	90704277	missense	probably damaging	1.00
R2117:Nrxn1	UTSW	17	90704277	missense	probably damaging	1.00
R2162:Nrxn1	UTSW	17	90162431	missense	probably damaging	1.00
R3119:Nrxn1	UTSW	17	90597519	nonsense	probably null
R3409:Nrxn1	UTSW	17	90208367	missense	probably damaging	1.00
R3683:Nrxn1	UTSW	17	90623452	missense	probably damaging	1.00
R3885:Nrxn1	UTSW	17	90623471	missense	probably damaging	1.00
R3939:Nrxn1	UTSW	17	90208421	missense	probably damaging	1.00
R4475:Nrxn1	UTSW	17	90701982	missense	probably damaging	0.98
R4640:Nrxn1	UTSW	17	90560768	missense	probably damaging	1.00
R4678:Nrxn1	UTSW	17	90623422	missense	probably damaging	1.00
R4690:Nrxn1	UTSW	17	90037081	missense	probably damaging	1.00
R4790:Nrxn1	UTSW	17	90455049	missense	possibly damaging	0.86
R4877:Nrxn1	UTSW	17	91088177	missense	probably benign	0.33
R4989:Nrxn1	UTSW	17	90620846	intron	probably benign
R5204:Nrxn1	UTSW	17	90162364	missense	probably damaging	1.00
R5205:Nrxn1	UTSW	17	90163874	missense	probably damaging	0.96
R5239:Nrxn1	UTSW	17	90704109	missense	probably damaging	1.00
R5250:Nrxn1	UTSW	17	90535441	intron	probably benign
R5473:Nrxn1	UTSW	17	90590092	missense	probably damaging	1.00
R5629:Nrxn1	UTSW	17	90590032	missense	possibly damaging	0.75
R5743:Nrxn1	UTSW	17	90643224	missense	probably damaging	1.00
R5961:Nrxn1	UTSW	17	90454943	missense	probably damaging	0.99
R5979:Nrxn1	UTSW	17	91088203	missense	possibly damaging	0.54
R5992:Nrxn1	UTSW	17	90623507	missense	probably benign	0.01
R6024:Nrxn1	UTSW	17	90590098	missense	possibly damaging	0.88
R6031:Nrxn1	UTSW	17	90588790	missense	probably damaging	1.00
R6031:Nrxn1	UTSW	17	90588790	missense	probably damaging	1.00
R6185:Nrxn1	UTSW	17	90037136	missense	probably damaging	1.00
R6220:Nrxn1	UTSW	17	91088476	missense	probably benign	0.14
R6306:Nrxn1	UTSW	17	90565446	missense	possibly damaging	0.55
R6621:Nrxn1	UTSW	17	90162182	missense	probably damaging	1.00
R6669:Nrxn1	UTSW	17	90059563	missense	probably damaging	0.98
R6770:Nrxn1	UTSW	17	90037179	missense	probably damaging	1.00
R6798:Nrxn1	UTSW	17	90629950	missense	probably damaging	1.00
R6923:Nrxn1	UTSW	17	91088233	missense	probably benign	0.06
R7140:Nrxn1	UTSW	17	91088764	start gained	probably benign
R7374:Nrxn1	UTSW	17	90588669	critical splice donor site	probably null
R7564:Nrxn1	UTSW	17	90362906	missense	possibly damaging	0.64
R7570:Nrxn1	UTSW	17	90162379	missense	probably benign	0.35
R7800:Nrxn1	UTSW	17	91089207	unclassified	probably benign
R7828:Nrxn1	UTSW	17	90059551	missense	probably damaging	0.99
R7974:Nrxn1	UTSW	17	90700779	missense	probably damaging	1.00
R8001:Nrxn1	UTSW	17	91088536	missense	possibly damaging	0.49
R8189:Nrxn1	UTSW	17	90704209	missense	probably damaging	0.96
R8258:Nrxn1	UTSW	17	90163821	missense	probably damaging	0.99
R8259:Nrxn1	UTSW	17	90163821	missense	probably damaging	0.99
R8298:Nrxn1	UTSW	17	90704169	missense	probably damaging	1.00
RF005:Nrxn1	UTSW	17	90362876	missense	probably damaging	1.00
RF024:Nrxn1	UTSW	17	90362876	missense	probably damaging	1.00
X0021:Nrxn1	UTSW	17	90590212	missense	probably damaging	1.00
X0063:Nrxn1	UTSW	17	90362831	missense	possibly damaging	0.54
Z1088:Nrxn1	UTSW	17	90059505	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCAAAGGCCCCTGATC -3'
(R):5'- AGTGGTTTGTTTAAAGTACACTCCC -3'

Sequencing Primer
(F):5'- GGCCCCTGATCCCAAATTAATG -3'
(R):5'- CCCATGTGAGTGCTTGACAG -3'

Posted On

2017-02-28