Incidental Mutation 'R7140:Nrxn1'
ID 553439
Institutional Source Beutler Lab
Gene Symbol Nrxn1
Ensembl Gene ENSMUSG00000024109
Gene Name neurexin I
Synonyms alpha-latrotoxin receptor (calcium-dependent), 1700062G21Rik, neurexin I alpha, neurexin I alpha, 9330127H16Rik, neurexin I beta, neurexin I beta, A230068P09Rik, 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 17
Chromosomal Location 90341059-91400499 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 91396192 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,610,929 (GRCm39) probably null Het
Ap2a2 G A 7: 141,178,777 (GRCm39) A148T probably benign Het
Arhgef3 A T 14: 27,123,664 (GRCm39) N442Y probably damaging Het
B3gat3 A G 19: 8,903,216 (GRCm39) Y191C probably damaging Het
B430306N03Rik A T 17: 48,629,483 (GRCm39) K203* probably null Het
C1qtnf6 T A 15: 78,409,283 (GRCm39) Y188F probably benign Het
Capn10 T C 1: 92,872,993 (GRCm39) V573A possibly damaging Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ccdc43 G T 11: 102,579,695 (GRCm39) probably null Het
Ccng2 C A 5: 93,416,614 (GRCm39) P45Q probably benign Het
Cd86 T C 16: 36,441,263 (GRCm39) H68R probably benign Het
Cmtm4 A G 8: 105,081,827 (GRCm39) Y187H probably damaging Het
Cst11 T C 2: 148,610,649 (GRCm39) N134S probably benign Het
Cyp3a25 A T 5: 145,939,855 (GRCm39) F51I probably benign Het
Dnhd1 A G 7: 105,342,973 (GRCm39) E1439G probably benign Het
Dock4 T C 12: 40,686,158 (GRCm39) V131A probably benign Het
Dpysl2 A G 14: 67,099,982 (GRCm39) S85P probably benign Het
Dync1i2 A G 2: 71,078,283 (GRCm39) H324R probably benign Het
Elf1 A G 14: 79,804,710 (GRCm39) D162G probably benign Het
Eri3 G A 4: 117,506,604 (GRCm39) probably null Het
Fbxl21 T C 13: 56,680,145 (GRCm39) S203P probably damaging Het
Foxi1 G A 11: 34,155,758 (GRCm39) R291C probably damaging Het
Gprin3 C T 6: 59,332,128 (GRCm39) A60T possibly damaging Het
Hecw1 A G 13: 14,491,118 (GRCm39) C212R probably benign Het
Hivep3 T C 4: 119,954,318 (GRCm39) L878P probably damaging Het
Hs6st3 A T 14: 119,376,514 (GRCm39) N230Y probably damaging Het
Htr3b A G 9: 48,848,441 (GRCm39) V268A possibly damaging Het
Ip6k3 T C 17: 27,363,969 (GRCm39) T360A probably damaging Het
Izumo1 A G 7: 45,275,536 (GRCm39) T282A probably benign Het
Kidins220 T A 12: 25,086,623 (GRCm39) I1019N probably damaging Het
Med13l T C 5: 118,880,037 (GRCm39) V1043A probably benign Het
Mon2 C T 10: 122,871,358 (GRCm39) V420I probably benign Het
Naip6 T A 13: 100,436,708 (GRCm39) Y605F possibly damaging Het
Nek7 A G 1: 138,414,793 (GRCm39) I285T probably benign Het
Notch3 A G 17: 32,375,351 (GRCm39) V357A possibly damaging Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or2w4 C T 13: 21,795,297 (GRCm39) V281M possibly damaging Het
Or4a67 G A 2: 88,598,308 (GRCm39) A117V probably damaging Het
Or5g9 T A 2: 85,551,818 (GRCm39) L23Q probably damaging Het
Or6c74 T G 10: 129,870,083 (GRCm39) M196R possibly damaging Het
Ostm1 C T 10: 42,559,268 (GRCm39) A176V probably null Het
Pabpc6 C A 17: 9,887,357 (GRCm39) S398I possibly damaging Het
Pcdhac2 C A 18: 37,277,239 (GRCm39) P73H possibly damaging Het
Pcdhga9 A G 18: 37,872,184 (GRCm39) D671G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pigu A C 2: 155,143,160 (GRCm39) L248R possibly damaging Het
Pinx1 C A 14: 64,097,834 (GRCm39) probably null Het
Pon3 T C 6: 5,221,664 (GRCm39) N322S possibly damaging Het
Pramel23 T G 4: 143,425,002 (GRCm39) H147P probably benign Het
Rnft1 A G 11: 86,382,586 (GRCm39) I270V probably benign Het
Scgb2b11 A G 7: 31,910,006 (GRCm39) F27L probably damaging Het
Slc5a4b C T 10: 75,910,943 (GRCm39) V298I probably damaging Het
Slco1a6 T A 6: 142,048,745 (GRCm39) H345L probably benign Het
Sox1 C T 8: 12,447,405 (GRCm39) P349S possibly damaging Het
Spata31 A G 13: 65,068,913 (GRCm39) N354D probably benign Het
Speg T C 1: 75,383,414 (GRCm39) probably null Het
Stpg1 T C 4: 135,261,033 (GRCm39) I281T probably benign Het
Sult3a1 T C 10: 33,753,283 (GRCm39) L193P probably damaging Het
Tenm3 A T 8: 48,745,271 (GRCm39) C1097S probably damaging Het
Tfap2a A G 13: 40,883,523 (GRCm39) S7P probably benign Het
Tlr1 T C 5: 65,083,021 (GRCm39) I519V probably benign Het
Tmem238 A G 7: 4,792,072 (GRCm39) V157A possibly damaging Het
Tmem45b A T 9: 31,345,780 (GRCm39) probably null Het
Togaram2 A T 17: 72,021,761 (GRCm39) H742L probably benign Het
Trpc7 A T 13: 56,937,487 (GRCm39) Y656* probably null Het
Wdr35 T A 12: 9,072,785 (GRCm39) Y920N probably damaging Het
Xab2 G A 8: 3,668,117 (GRCm39) R154C possibly damaging Het
Zfp759 A T 13: 67,288,177 (GRCm39) H576L possibly damaging Het
Zfp958 G T 8: 4,678,481 (GRCm39) A169S probably benign Het
Other mutations in Nrxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Nrxn1 APN 17 90,366,902 (GRCm39) critical splice donor site probably null
IGL01644:Nrxn1 APN 17 90,928,301 (GRCm39) missense possibly damaging 0.94
IGL01820:Nrxn1 APN 17 90,950,531 (GRCm39) missense probably damaging 0.98
IGL01902:Nrxn1 APN 17 91,395,919 (GRCm39) splice site probably null
IGL02079:Nrxn1 APN 17 90,950,511 (GRCm39) missense probably damaging 0.99
IGL02089:Nrxn1 APN 17 91,395,829 (GRCm39) missense probably benign 0.01
IGL02133:Nrxn1 APN 17 90,950,671 (GRCm39) missense probably damaging 1.00
IGL02179:Nrxn1 APN 17 90,937,511 (GRCm39) missense probably damaging 0.99
IGL02199:Nrxn1 APN 17 90,344,686 (GRCm39) missense probably damaging 1.00
IGL02262:Nrxn1 APN 17 91,011,636 (GRCm39) missense probably damaging 1.00
IGL02941:Nrxn1 APN 17 90,515,811 (GRCm39) missense probably damaging 1.00
PIT4449001:Nrxn1 UTSW 17 90,905,007 (GRCm39) missense probably damaging 1.00
PIT4791001:Nrxn1 UTSW 17 90,762,931 (GRCm39) intron probably benign
R0123:Nrxn1 UTSW 17 91,302,915 (GRCm39) splice site probably null
R0212:Nrxn1 UTSW 17 90,670,186 (GRCm39) unclassified probably benign
R0277:Nrxn1 UTSW 17 91,008,170 (GRCm39) critical splice donor site probably null
R0323:Nrxn1 UTSW 17 91,008,170 (GRCm39) critical splice donor site probably null
R0384:Nrxn1 UTSW 17 90,515,775 (GRCm39) missense probably damaging 1.00
R0395:Nrxn1 UTSW 17 91,395,742 (GRCm39) missense possibly damaging 0.90
R0606:Nrxn1 UTSW 17 90,872,801 (GRCm39) missense probably damaging 1.00
R0616:Nrxn1 UTSW 17 90,670,285 (GRCm39) missense probably damaging 1.00
R0624:Nrxn1 UTSW 17 91,396,117 (GRCm39) missense unknown
R0633:Nrxn1 UTSW 17 91,011,609 (GRCm39) missense probably damaging 1.00
R0927:Nrxn1 UTSW 17 90,344,758 (GRCm39) missense probably damaging 1.00
R1035:Nrxn1 UTSW 17 90,471,302 (GRCm39) missense probably damaging 0.96
R1221:Nrxn1 UTSW 17 90,950,722 (GRCm39) missense probably damaging 0.97
R1403:Nrxn1 UTSW 17 90,950,481 (GRCm39) missense probably benign 0.11
R1403:Nrxn1 UTSW 17 90,950,481 (GRCm39) missense probably benign 0.11
R1691:Nrxn1 UTSW 17 90,469,717 (GRCm39) missense probably damaging 0.98
R1703:Nrxn1 UTSW 17 90,515,845 (GRCm39) missense probably damaging 1.00
R1709:Nrxn1 UTSW 17 90,344,615 (GRCm39) missense probably damaging 1.00
R1721:Nrxn1 UTSW 17 90,469,832 (GRCm39) missense probably damaging 1.00
R1792:Nrxn1 UTSW 17 90,896,252 (GRCm39) missense probably damaging 0.96
R1980:Nrxn1 UTSW 17 91,395,746 (GRCm39) missense probably benign 0.01
R2116:Nrxn1 UTSW 17 91,011,705 (GRCm39) missense probably damaging 1.00
R2117:Nrxn1 UTSW 17 91,011,705 (GRCm39) missense probably damaging 1.00
R2162:Nrxn1 UTSW 17 90,469,859 (GRCm39) missense probably damaging 1.00
R3119:Nrxn1 UTSW 17 90,904,947 (GRCm39) nonsense probably null
R3409:Nrxn1 UTSW 17 90,515,795 (GRCm39) missense probably damaging 1.00
R3683:Nrxn1 UTSW 17 90,930,880 (GRCm39) missense probably damaging 1.00
R3885:Nrxn1 UTSW 17 90,930,899 (GRCm39) missense probably damaging 1.00
R3939:Nrxn1 UTSW 17 90,515,849 (GRCm39) missense probably damaging 1.00
R4475:Nrxn1 UTSW 17 91,009,410 (GRCm39) missense probably damaging 0.98
R4640:Nrxn1 UTSW 17 90,868,196 (GRCm39) missense probably damaging 1.00
R4678:Nrxn1 UTSW 17 90,930,850 (GRCm39) missense probably damaging 1.00
R4690:Nrxn1 UTSW 17 90,344,509 (GRCm39) missense probably damaging 1.00
R4790:Nrxn1 UTSW 17 90,762,477 (GRCm39) missense possibly damaging 0.86
R4877:Nrxn1 UTSW 17 91,395,605 (GRCm39) missense probably benign 0.33
R4989:Nrxn1 UTSW 17 90,928,274 (GRCm39) intron probably benign
R5204:Nrxn1 UTSW 17 90,469,792 (GRCm39) missense probably damaging 1.00
R5205:Nrxn1 UTSW 17 90,471,302 (GRCm39) missense probably damaging 0.96
R5239:Nrxn1 UTSW 17 91,011,537 (GRCm39) missense probably damaging 1.00
R5250:Nrxn1 UTSW 17 90,842,869 (GRCm39) intron probably benign
R5473:Nrxn1 UTSW 17 90,897,520 (GRCm39) missense probably damaging 1.00
R5629:Nrxn1 UTSW 17 90,897,460 (GRCm39) missense possibly damaging 0.75
R5743:Nrxn1 UTSW 17 90,950,652 (GRCm39) missense probably damaging 1.00
R5910:Nrxn1 UTSW 17 91,011,746 (GRCm39) nonsense probably null
R5961:Nrxn1 UTSW 17 90,762,371 (GRCm39) missense probably damaging 0.99
R5979:Nrxn1 UTSW 17 91,395,631 (GRCm39) missense possibly damaging 0.54
R5992:Nrxn1 UTSW 17 90,930,935 (GRCm39) missense probably benign 0.01
R6024:Nrxn1 UTSW 17 90,897,526 (GRCm39) missense possibly damaging 0.88
R6031:Nrxn1 UTSW 17 90,896,218 (GRCm39) missense probably damaging 1.00
R6031:Nrxn1 UTSW 17 90,896,218 (GRCm39) missense probably damaging 1.00
R6185:Nrxn1 UTSW 17 90,344,564 (GRCm39) missense probably damaging 1.00
R6220:Nrxn1 UTSW 17 91,395,904 (GRCm39) missense probably benign 0.14
R6306:Nrxn1 UTSW 17 90,872,874 (GRCm39) missense possibly damaging 0.55
R6621:Nrxn1 UTSW 17 90,469,610 (GRCm39) missense probably damaging 1.00
R6669:Nrxn1 UTSW 17 90,366,991 (GRCm39) missense probably damaging 0.98
R6770:Nrxn1 UTSW 17 90,344,607 (GRCm39) missense probably damaging 1.00
R6798:Nrxn1 UTSW 17 90,937,378 (GRCm39) missense probably damaging 1.00
R6923:Nrxn1 UTSW 17 91,395,661 (GRCm39) missense probably benign 0.06
R7374:Nrxn1 UTSW 17 90,896,097 (GRCm39) critical splice donor site probably null
R7564:Nrxn1 UTSW 17 90,670,334 (GRCm39) missense possibly damaging 0.64
R7570:Nrxn1 UTSW 17 90,469,807 (GRCm39) missense probably benign 0.35
R7800:Nrxn1 UTSW 17 91,396,635 (GRCm39) unclassified probably benign
R7828:Nrxn1 UTSW 17 90,366,979 (GRCm39) missense probably damaging 0.99
R7974:Nrxn1 UTSW 17 91,008,207 (GRCm39) missense probably damaging 1.00
R8001:Nrxn1 UTSW 17 91,395,964 (GRCm39) missense possibly damaging 0.49
R8189:Nrxn1 UTSW 17 91,011,637 (GRCm39) missense probably damaging 0.96
R8258:Nrxn1 UTSW 17 90,471,249 (GRCm39) missense probably damaging 0.99
R8259:Nrxn1 UTSW 17 90,471,249 (GRCm39) missense probably damaging 0.99
R8298:Nrxn1 UTSW 17 91,011,597 (GRCm39) missense probably damaging 1.00
R8801:Nrxn1 UTSW 17 91,009,393 (GRCm39) critical splice donor site probably benign
R8814:Nrxn1 UTSW 17 90,937,529 (GRCm39) missense probably damaging 1.00
R8873:Nrxn1 UTSW 17 90,872,821 (GRCm39) nonsense probably null
R8954:Nrxn1 UTSW 17 90,897,615 (GRCm39) missense probably damaging 1.00
R9086:Nrxn1 UTSW 17 90,469,792 (GRCm39) missense probably damaging 1.00
R9110:Nrxn1 UTSW 17 90,869,233 (GRCm39) nonsense probably null
R9498:Nrxn1 UTSW 17 90,897,397 (GRCm39) missense probably damaging 1.00
R9499:Nrxn1 UTSW 17 90,937,450 (GRCm39) missense probably damaging 1.00
R9552:Nrxn1 UTSW 17 90,937,450 (GRCm39) missense probably damaging 1.00
R9780:Nrxn1 UTSW 17 90,931,042 (GRCm39) missense possibly damaging 0.54
RF005:Nrxn1 UTSW 17 90,670,304 (GRCm39) missense probably damaging 1.00
RF024:Nrxn1 UTSW 17 90,670,304 (GRCm39) missense probably damaging 1.00
X0021:Nrxn1 UTSW 17 90,897,640 (GRCm39) missense probably damaging 1.00
X0063:Nrxn1 UTSW 17 90,670,259 (GRCm39) missense possibly damaging 0.54
Z1088:Nrxn1 UTSW 17 90,366,933 (GRCm39) 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