Incidental Mutation 'R6923:Nrxn1'
ID 539759
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
MMRRC Submission 045381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6923 (G1)
Quality Score 199.009
Status Validated
Chromosome 17
Chromosomal Location 90341059-91400499 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91395661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 165 (A165V)
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
AA Change: A165V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057294
Gene: ENSMUSG00000024109
AA Change: A165V

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
AA Change: A165V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000072458
Gene: ENSMUSG00000024109
AA Change: A165V

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
AA Change: A165V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124561
Gene: ENSMUSG00000024109
AA Change: A165V

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
AA Change: A165V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125407
Gene: ENSMUSG00000024109
AA Change: A165V

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
AA Change: A165V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124116
Gene: ENSMUSG00000024109
AA Change: A165V

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
AA Change: A165V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133491
Gene: ENSMUSG00000024109
AA Change: A165V

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: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 A G 5: 90,725,652 (GRCm39) N288S probably benign Het
Ap4b1 T A 3: 103,719,530 (GRCm39) D81E probably benign Het
Atg16l1 A T 1: 87,702,078 (GRCm39) probably null Het
Atp11a A G 8: 12,906,949 (GRCm39) T459A probably damaging Het
Bloc1s5 T A 13: 38,815,040 (GRCm39) I40F probably damaging Het
Bltp2 T A 11: 78,165,452 (GRCm39) S1323T possibly damaging Het
Capn5 T A 7: 97,778,461 (GRCm39) Q386L probably damaging Het
Cbfa2t2 C T 2: 154,376,903 (GRCm39) H529Y probably damaging Het
Cd3d T C 9: 44,897,157 (GRCm39) probably benign Het
Cenpa A G 5: 30,829,806 (GRCm39) probably null Het
Chit1 A T 1: 134,077,163 (GRCm39) Y322F probably null Het
Cntnap5c T A 17: 58,399,345 (GRCm39) N399K possibly damaging Het
Dock8 A T 19: 25,072,970 (GRCm39) T417S probably benign Het
Firrm A G 1: 163,814,454 (GRCm39) probably null Het
Fkbp2 A G 19: 6,956,537 (GRCm39) Het
Fsip1 G A 2: 118,080,394 (GRCm39) R121C probably benign Het
Gbp2b T C 3: 142,306,320 (GRCm39) I131T probably benign Het
Gm12695 T C 4: 96,658,053 (GRCm39) N39D probably benign Het
Gm4922 T C 10: 18,659,616 (GRCm39) R369G probably damaging Het
Gpatch3 C T 4: 133,309,836 (GRCm39) L390F probably damaging Het
Gpd2 G A 2: 57,245,800 (GRCm39) M443I probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hdac1-ps A G 17: 78,800,343 (GRCm39) T445A possibly damaging Het
Jph3 A G 8: 122,480,110 (GRCm39) T263A possibly damaging Het
Me3 C A 7: 89,495,093 (GRCm39) A337E probably damaging Het
Mndal A C 1: 173,712,264 (GRCm39) probably null Het
Msantd5l C T 11: 51,144,808 (GRCm39) D158N probably damaging Het
Muc6 C T 7: 141,217,453 (GRCm39) E2342K possibly damaging Het
Neb A G 2: 52,076,076 (GRCm39) V5659A probably damaging Het
Nkapd1 T A 9: 50,521,610 (GRCm39) I104L probably benign Het
Or5b94 T A 19: 12,652,409 (GRCm39) I280N possibly damaging Het
Or5b97 T C 19: 12,878,676 (GRCm39) N156S probably benign Het
Orc2 A G 1: 58,539,534 (GRCm39) L35S probably benign Het
Pax4 A G 6: 28,447,118 (GRCm39) probably null Het
Pcdhb7 C T 18: 37,475,522 (GRCm39) probably null Het
Pla2r1 C T 2: 60,345,310 (GRCm39) E349K probably benign Het
Polr2a C T 11: 69,626,787 (GRCm39) A1516T probably benign Het
Pramel23 A T 4: 143,425,676 (GRCm39) I89N probably benign Het
Prpf38a G T 4: 108,427,401 (GRCm39) D187E possibly damaging Het
Rdh16f1 T A 10: 127,624,737 (GRCm39) probably null Het
S100z T A 13: 95,615,090 (GRCm39) D25V probably damaging Het
Scamp2 T G 9: 57,488,895 (GRCm39) F199V probably damaging Het
Semp2l2b C A 10: 21,943,654 (GRCm39) G109C probably damaging Het
Senp2 T G 16: 21,830,326 (GRCm39) probably benign Het
Sltm T A 9: 70,481,892 (GRCm39) S365T probably damaging Het
Smg6 C G 11: 74,820,169 (GRCm39) P147A possibly damaging Het
Spem2 T A 11: 69,708,603 (GRCm39) R121W probably damaging Het
Sufu A G 19: 46,439,405 (GRCm39) probably null Het
Syt2 T C 1: 134,674,501 (GRCm39) V313A possibly damaging Het
Tet2 C T 3: 133,185,102 (GRCm39) probably null Het
Tfeb T A 17: 48,097,908 (GRCm39) I232N probably benign Het
Ticrr T G 7: 79,341,601 (GRCm39) I1062M probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vrk2 G A 11: 26,439,893 (GRCm39) A226V probably damaging Het
Wnk1 A T 6: 119,942,639 (GRCm39) probably benign Het
Xpo4 G T 14: 57,841,168 (GRCm39) T505K probably benign Het
Yy1 A T 12: 108,759,594 (GRCm39) I86F probably benign Het
Zc3h15 A G 2: 83,487,400 (GRCm39) D73G possibly damaging 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
R7140:Nrxn1 UTSW 17 91,396,192 (GRCm39) start gained probably benign
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'- TACCTTGGCTGCAGTCCTTG -3'
(R):5'- AGAGCGAGATGAGCTTCCAG -3'

Sequencing Primer
(F):5'- TCCTCGAGCAGTCGCATAC -3'
(R):5'- GTGCTCTACTTCGACGACG -3'
Posted On 2018-11-06