Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Nrxn1'

553439

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7140 (G1)

Quality Score

125.008

Status

Validated

Chromosome

Chromosomal Location

90033631-91093071 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 91088764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054059] [ENSMUST00000072671] [ENSMUST00000095183] [ENSMUST00000160800] [ENSMUST00000160844] [ENSMUST00000161402] [ENSMUST00000174331]

AlphaFold

Q9CS84

Predicted Effect

probably benign
Transcript: ENSMUST00000054059

SMART Domains

Protein: ENSMUSP00000057294
Gene: ENSMUSG00000024109

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 benign
Transcript: ENSMUST00000072671

SMART Domains

Protein: ENSMUSP00000072458
Gene: ENSMUSG00000024109

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

probably benign
Transcript: ENSMUST00000095183

SMART Domains

Protein: ENSMUSP00000092806
Gene: ENSMUSG00000071033

Domain	Start	End	E-Value	Type
low complexity region	1	40	N/A	INTRINSIC
low complexity region	47	61	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160800

SMART Domains

Protein: ENSMUSP00000124561
Gene: ENSMUSG00000024109

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 benign
Transcript: ENSMUST00000160844

SMART Domains

Protein: ENSMUSP00000125407
Gene: ENSMUSG00000024109

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

probably benign
Transcript: ENSMUST00000161402

SMART Domains

Protein: ENSMUSP00000124116
Gene: ENSMUSG00000024109

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

probably benign
Transcript: ENSMUST00000174331

SMART Domains

Protein: ENSMUSP00000133491
Gene: ENSMUSG00000024109

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,120,901		probably null	Het
Ap2a2	G	A	7: 141,598,864	A148T	probably benign	Het
Arhgef3	A	T	14: 27,401,707	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,925,852	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,322,455	K203*	probably null	Het
C1qtnf6	T	A	15: 78,525,083	Y188F	probably benign	Het
Capn10	T	C	1: 92,945,271	V573A	possibly damaging	Het
Cbx4	T	C	11: 119,081,928	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,688,869		probably null	Het
Ccng2	C	A	5: 93,268,755	P45Q	probably benign	Het
Cd86	T	C	16: 36,620,901	H68R	probably benign	Het
Cmtm4	A	G	8: 104,355,195	Y187H	probably damaging	Het
Cst11	T	C	2: 148,768,729	N134S	probably benign	Het
Cyp3a25	A	T	5: 146,003,045	F51I	probably benign	Het
Dnhd1	A	G	7: 105,693,766	E1439G	probably benign	Het
Dock4	T	C	12: 40,636,159	V131A	probably benign	Het
Dpysl2	A	G	14: 66,862,533	S85P	probably benign	Het
Dync1i2	A	G	2: 71,247,939	H324R	probably benign	Het
Elf1	A	G	14: 79,567,270	D162G	probably benign	Het
Eri3	G	A	4: 117,649,407		probably null	Het
Fbxl21	T	C	13: 56,532,332	S203P	probably damaging	Het
Foxi1	G	A	11: 34,205,758	R291C	probably damaging	Het
Gm13089	T	G	4: 143,698,432	H147P	probably benign	Het
Gprin3	C	T	6: 59,355,143	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,316,533	C212R	probably benign	Het
Hivep3	T	C	4: 120,097,121	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,139,102	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,937,141	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,144,995	T360A	probably damaging	Het
Izumo1	A	G	7: 45,626,112	T282A	probably benign	Het
Kidins220	T	A	12: 25,036,624	I1019N	probably damaging	Het
Med13l	T	C	5: 118,741,972	V1043A	probably benign	Het
Mon2	C	T	10: 123,035,453	V420I	probably benign	Het
Naip6	T	A	13: 100,300,200	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,487,055	I285T	probably benign	Het
Notch3	A	G	17: 32,156,377	V357A	possibly damaging	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1009	T	A	2: 85,721,474	L23Q	probably damaging	Het
Olfr1200	G	A	2: 88,767,964	A117V	probably damaging	Het
Olfr1362	C	T	13: 21,611,127	V281M	possibly damaging	Het
Olfr821	T	G	10: 130,034,214	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,683,272	A176V	probably null	Het
Pabpc6	C	A	17: 9,668,428	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,144,186	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,739,131	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pigu	A	C	2: 155,301,240	L248R	possibly damaging	Het
Pinx1	C	A	14: 63,860,385		probably null	Het
Pon3	T	C	6: 5,221,664	N322S	possibly damaging	Het
Rnft1	A	G	11: 86,491,760	I270V	probably benign	Het
Scgb2b11	A	G	7: 32,210,581	F27L	probably damaging	Het
Slc5a4b	C	T	10: 76,075,109	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,103,019	H345L	probably benign	Het
Sox1	C	T	8: 12,397,405	P349S	possibly damaging	Het
Spata31	A	G	13: 64,921,099	N354D	probably benign	Het
Speg	T	C	1: 75,406,770		probably null	Het
Stpg1	T	C	4: 135,533,722	I281T	probably benign	Het
Sult3a1	T	C	10: 33,877,287	L193P	probably damaging	Het
Tenm3	A	T	8: 48,292,236	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,730,047	S7P	probably benign	Het
Tlr1	T	C	5: 64,925,678	I519V	probably benign	Het
Tmem238	A	G	7: 4,789,073	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,434,484		probably null	Het
Togaram2	A	T	17: 71,714,766	H742L	probably benign	Het
Trpc7	A	T	13: 56,789,674	Y656*	probably null	Het
Wdr35	T	A	12: 9,022,785	Y920N	probably damaging	Het
Xab2	G	A	8: 3,618,117	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,140,113	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,628,481	A169S	probably benign	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
R5910:Nrxn1	UTSW	17	90704318	nonsense	probably null
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
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
R8801:Nrxn1	UTSW	17	90701965	critical splice donor site	probably benign
R8814:Nrxn1	UTSW	17	90630101	missense	probably damaging	1.00
R8873:Nrxn1	UTSW	17	90565393	nonsense	probably null
R8954:Nrxn1	UTSW	17	90590187	missense	probably damaging	1.00
R9086:Nrxn1	UTSW	17	90162364	missense	probably damaging	1.00
R9110:Nrxn1	UTSW	17	90561805	nonsense	probably null
R9498:Nrxn1	UTSW	17	90589969	missense	probably damaging	1.00
R9499:Nrxn1	UTSW	17	90630022	missense	probably damaging	1.00
R9552:Nrxn1	UTSW	17	90630022	missense	probably damaging	1.00
R9780:Nrxn1	UTSW	17	90623614	missense	possibly damaging	0.54
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'- TGGAAGCTCATCTCGCTCTC -3'
(R):5'- GTTCTGCAGCTATCCCATAGG -3'

Sequencing Primer
(F):5'- AGCACGCGTTCCACTTG -3'
(R):5'- GACTGGGGTCTCCGCTTTC -3'

Posted On

2019-05-15