Incidental Mutation 'IGL02089:Nrxn1'
ID 279365
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02089
Quality Score
Status
Chromosome 17
Chromosomal Location 90341059-91400499 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91395829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
Ref Sequence ENSEMBL: ENSMUSP00000133491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054059] [ENSMUST00000072671] [ENSMUST00000095183] [ENSMUST00000160800] [ENSMUST00000160844] [ENSMUST00000174331] [ENSMUST00000161402]
AlphaFold Q9CS84
Predicted Effect probably benign
Transcript: ENSMUST00000054059
AA Change: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000057294
Gene: ENSMUSG00000024109
AA Change: V109A

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: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000072458
Gene: ENSMUSG00000024109
AA Change: V109A

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 noncoding transcript
Transcript: ENSMUST00000159419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160467
Predicted Effect probably benign
Transcript: ENSMUST00000160800
AA Change: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124561
Gene: ENSMUSG00000024109
AA Change: V109A

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: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125407
Gene: ENSMUSG00000024109
AA Change: V109A

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: ENSMUST00000174331
AA Change: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133491
Gene: ENSMUSG00000024109
AA Change: V109A

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
Predicted Effect probably benign
Transcript: ENSMUST00000161402
AA Change: V109A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124116
Gene: ENSMUSG00000024109
AA Change: V109A

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 noncoding transcript
Transcript: ENSMUST00000161102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161637
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 68,951,013 (GRCm39) silent Het
Adck1 G T 12: 88,413,480 (GRCm39) V271F probably damaging Het
Aggf1 T C 13: 95,507,437 (GRCm39) D116G probably benign Het
Anapc1 A T 2: 128,505,853 (GRCm39) V661E probably damaging Het
Apoa5 T C 9: 46,180,437 (GRCm39) probably null Het
Atp8a2 C T 14: 60,264,369 (GRCm39) probably null Het
Bnipl A T 3: 95,157,577 (GRCm39) probably benign Het
Cbs T G 17: 31,834,519 (GRCm39) D490A probably benign Het
Chrdl1 G T X: 142,086,510 (GRCm39) H199N possibly damaging Het
Dcaf1 C T 9: 106,740,310 (GRCm39) T1232I probably benign Het
Ddx19b T C 8: 111,735,477 (GRCm39) probably benign Het
Ephb4 A G 5: 137,369,024 (GRCm39) K805E probably damaging Het
Ergic3 A G 2: 155,852,395 (GRCm39) N135D probably benign Het
Fbxw18 C T 9: 109,530,390 (GRCm39) V74I probably benign Het
Fmo4 G T 1: 162,626,649 (GRCm39) T299N probably benign Het
Gmeb1 T C 4: 131,953,147 (GRCm39) K540E probably damaging Het
H60c T A 10: 3,209,826 (GRCm39) S154C possibly damaging Het
Herc1 T C 9: 66,388,151 (GRCm39) L3812S probably damaging Het
Hipk3 T C 2: 104,261,724 (GRCm39) D937G probably damaging Het
Ift122 A G 6: 115,902,398 (GRCm39) D1079G probably benign Het
Il6st T C 13: 112,631,774 (GRCm39) W438R probably benign Het
Lypla2 C T 4: 135,696,932 (GRCm39) V117I probably benign Het
Mapk8ip1 T C 2: 92,216,220 (GRCm39) Y516C probably damaging Het
Mmp24 G A 2: 155,654,213 (GRCm39) G397D probably damaging Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Muc5b T G 7: 141,416,987 (GRCm39) V3311G probably benign Het
Naca A G 10: 127,872,358 (GRCm39) probably benign Het
Nup210 T G 6: 91,053,680 (GRCm39) D279A probably benign Het
Or10g6 A T 9: 39,934,066 (GRCm39) I126F probably damaging Het
Or8h7 A G 2: 86,721,460 (GRCm39) S20P possibly damaging Het
Pappa T A 4: 65,074,361 (GRCm39) V305E possibly damaging Het
Pcdh19 A T X: 132,489,245 (GRCm39) M977K probably benign Het
Pdzph1 T A 17: 59,274,334 (GRCm39) I837F possibly damaging Het
Phip A T 9: 82,753,372 (GRCm39) L1791M probably damaging Het
Pkdrej C T 15: 85,700,489 (GRCm39) V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,447 (GRCm39) V1063M probably damaging Het
Qprt A T 7: 126,707,528 (GRCm39) M220K probably damaging Het
R3hcc1 T C 14: 69,937,475 (GRCm39) K391E possibly damaging Het
Rbbp7 C A X: 161,554,052 (GRCm39) P162Q probably benign Het
Rev3l A T 10: 39,701,095 (GRCm39) N1864I probably damaging Het
Rims1 A G 1: 22,669,556 (GRCm39) I84T possibly damaging Het
Rnase2b A T 14: 51,400,240 (GRCm39) K107I probably benign Het
Sbf1 C A 15: 89,186,708 (GRCm39) E864* probably null Het
Strip2 G A 6: 29,917,179 (GRCm39) probably benign Het
Stx4a T C 7: 127,447,570 (GRCm39) I238T probably damaging Het
Tbc1d2b C T 9: 90,104,412 (GRCm39) V577I possibly damaging Het
Tex38 T C 4: 115,637,591 (GRCm39) T71A possibly damaging Het
Usp38 T C 8: 81,712,343 (GRCm39) E564G possibly damaging Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Wwp2 T A 8: 108,280,689 (GRCm39) L644Q probably damaging Het
Zfp267 T C 3: 36,218,877 (GRCm39) F300S possibly damaging Het
Zpld1 A G 16: 55,071,974 (GRCm39) I95T 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
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
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
Posted On 2015-04-16