Incidental Mutation 'IGL02085:Nrxn2'
ID 283501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrxn2
Ensembl Gene ENSMUSG00000033768
Gene Name neurexin II
Synonyms neurexin II alpha, neurexin II beta, 6430591O13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02085
Quality Score
Status
Chromosome 19
Chromosomal Location 6468786-6583247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6542898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1041 (M1041L)
Ref Sequence ENSEMBL: ENSMUSP00000109089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113458] [ENSMUST00000113459] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]
AlphaFold E9Q7X7
Predicted Effect possibly damaging
Transcript: ENSMUST00000077182
AA Change: M1033L

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: M1033L

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 444 1.18e-33 SMART
LamG 498 651 1.51e-40 SMART
EGF 678 712 8.91e-3 SMART
LamG 737 875 4.91e-22 SMART
LamG 923 1059 1.08e-41 SMART
EGF 1084 1118 1.91e1 SMART
LamG 1146 1303 4.48e-16 SMART
low complexity region 1332 1362 N/A INTRINSIC
low complexity region 1430 1445 N/A INTRINSIC
4.1m 1448 1466 3.75e-4 SMART
low complexity region 1480 1499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113458
SMART Domains Protein: ENSMUSP00000109085
Gene: ENSMUSG00000033768

DomainStartEndE-ValueType
signal peptide 1 46 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
LamG 111 268 4.48e-16 SMART
low complexity region 297 327 N/A INTRINSIC
low complexity region 383 404 N/A INTRINSIC
low complexity region 587 602 N/A INTRINSIC
4.1m 605 623 3.75e-4 SMART
low complexity region 637 656 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113459
SMART Domains Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768

DomainStartEndE-ValueType
signal peptide 1 46 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
LamG 111 238 1.26e-19 SMART
low complexity region 267 297 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113461
AA Change: M1008L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: M1008L

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
LamG 286 428 8.4e-30 SMART
LamG 482 635 1.51e-40 SMART
EGF 662 696 8.91e-3 SMART
LamG 721 850 2.36e-24 SMART
LamG 898 1034 1.08e-41 SMART
EGF 1059 1093 1.91e1 SMART
LamG 1121 1248 1.26e-19 SMART
low complexity region 1277 1307 N/A INTRINSIC
low complexity region 1363 1384 N/A INTRINSIC
low complexity region 1567 1582 N/A INTRINSIC
4.1m 1585 1603 3.75e-4 SMART
low complexity region 1617 1636 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113462
AA Change: M1041L

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: M1041L

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 452 8.4e-30 SMART
LamG 506 659 1.51e-40 SMART
EGF 686 720 8.91e-3 SMART
LamG 745 883 4.91e-22 SMART
LamG 931 1067 1.08e-41 SMART
EGF 1092 1126 1.91e1 SMART
LamG 1154 1311 4.48e-16 SMART
low complexity region 1340 1370 N/A INTRINSIC
low complexity region 1426 1447 N/A INTRINSIC
low complexity region 1630 1645 N/A INTRINSIC
4.1m 1648 1666 3.75e-4 SMART
low complexity region 1680 1699 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137166
AA Change: M1048L

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: M1048L

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 459 8.87e-29 SMART
LamG 513 666 1.51e-40 SMART
EGF 693 727 8.91e-3 SMART
LamG 752 890 4.91e-22 SMART
LamG 938 1074 1.08e-41 SMART
EGF 1099 1133 1.91e1 SMART
LamG 1161 1318 4.48e-16 SMART
low complexity region 1347 1377 N/A INTRINSIC
low complexity region 1433 1454 N/A INTRINSIC
low complexity region 1637 1652 N/A INTRINSIC
4.1m 1655 1673 3.75e-4 SMART
low complexity region 1687 1706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148391
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,192,854 (GRCm39) probably null Het
Akr1c14 T A 13: 4,128,035 (GRCm39) C145* probably null Het
Arhgef26 A G 3: 62,367,145 (GRCm39) probably benign Het
Asb9 A G X: 163,318,452 (GRCm39) M215V probably benign Het
Atoh8 C A 6: 72,212,157 (GRCm39) probably benign Het
Atp6v1b1 T A 6: 83,730,897 (GRCm39) probably benign Het
Cep97 T C 16: 55,735,868 (GRCm39) E310G probably damaging Het
Ctrc C T 4: 141,571,025 (GRCm39) D72N possibly damaging Het
Dnah2 A G 11: 69,349,011 (GRCm39) I2492T probably benign Het
Emilin2 A G 17: 71,582,144 (GRCm39) V194A probably damaging Het
Epb41l5 T C 1: 119,500,586 (GRCm39) T524A probably benign Het
Fam91a1 A G 15: 58,313,505 (GRCm39) N497S possibly damaging Het
Gabpb1 A T 2: 126,481,191 (GRCm39) C319* probably null Het
Galnt10 A G 11: 57,673,104 (GRCm39) T487A probably benign Het
Hecw2 T A 1: 53,981,961 (GRCm39) probably null Het
Hmg20a C T 9: 56,384,586 (GRCm39) Q119* probably null Het
Ifi44l A G 3: 151,468,477 (GRCm39) S18P unknown Het
Immt T A 6: 71,828,820 (GRCm39) V125E probably benign Het
Ints13 T C 6: 146,451,437 (GRCm39) probably benign Het
Lrp1b C T 2: 40,779,321 (GRCm39) G2574S probably benign Het
Myoc T C 1: 162,467,343 (GRCm39) C171R probably benign Het
Ncbp1 C T 4: 46,159,699 (GRCm39) T404M probably damaging Het
Npy6r A G 18: 44,408,998 (GRCm39) N140D probably damaging Het
Nsmaf G A 4: 6,398,551 (GRCm39) P851L probably benign Het
Nutm2 T A 13: 50,627,829 (GRCm39) probably null Het
Or10ak8 A G 4: 118,773,947 (GRCm39) F239S probably damaging Het
Or2g25 A G 17: 37,970,579 (GRCm39) V215A probably benign Het
Or4f61 A C 2: 111,922,869 (GRCm39) M59R probably damaging Het
Padi2 T G 4: 140,654,468 (GRCm39) Y206* probably null Het
Pcdh19 A T X: 132,582,007 (GRCm39) Y766* probably null Het
Pde12 A G 14: 26,387,619 (GRCm39) probably benign Het
Ppl C T 16: 4,907,680 (GRCm39) G872R probably benign Het
Prkag3 C T 1: 74,787,971 (GRCm39) probably benign Het
Ptgfr T C 3: 151,541,437 (GRCm39) T24A probably benign Het
Rpe65 T C 3: 159,321,283 (GRCm39) V365A probably benign Het
Shank3 T C 15: 89,388,118 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,200 (GRCm39) T642A probably benign Het
Slco6d1 C A 1: 98,371,468 (GRCm39) P275T probably damaging Het
Smarca1 G T X: 46,964,109 (GRCm39) Q343K probably damaging Het
Smoc2 A G 17: 14,567,495 (GRCm39) T180A possibly damaging Het
Tfrc G A 16: 32,440,004 (GRCm39) V406I probably benign Het
Tigit C T 16: 43,469,473 (GRCm39) G206D probably benign Het
Triobp G A 15: 78,858,497 (GRCm39) probably benign Het
Trmo T C 4: 46,380,217 (GRCm39) Y384C probably damaging Het
Vmn1r89 T A 7: 12,953,465 (GRCm39) I67N probably damaging Het
Wdr17 C A 8: 55,140,771 (GRCm39) E194* probably null Het
Other mutations in Nrxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Nrxn2 APN 19 6,523,623 (GRCm39) missense possibly damaging 0.84
IGL01020:Nrxn2 APN 19 6,543,473 (GRCm39) missense probably benign 0.02
IGL01064:Nrxn2 APN 19 6,567,083 (GRCm39) missense probably damaging 0.97
IGL01561:Nrxn2 APN 19 6,540,172 (GRCm39) missense probably damaging 1.00
IGL01759:Nrxn2 APN 19 6,559,959 (GRCm39) missense probably damaging 1.00
IGL02071:Nrxn2 APN 19 6,531,783 (GRCm39) missense probably damaging 1.00
IGL02132:Nrxn2 APN 19 6,522,306 (GRCm39) missense probably damaging 1.00
IGL02476:Nrxn2 APN 19 6,505,015 (GRCm39) missense probably damaging 1.00
IGL02605:Nrxn2 APN 19 6,500,610 (GRCm39) missense probably benign 0.02
IGL03123:Nrxn2 APN 19 6,531,767 (GRCm39) missense probably damaging 0.98
IGL03288:Nrxn2 APN 19 6,540,726 (GRCm39) missense probably damaging 1.00
PIT4687001:Nrxn2 UTSW 19 6,531,338 (GRCm39) missense probably benign 0.06
R0019:Nrxn2 UTSW 19 6,559,987 (GRCm39) splice site probably benign
R0257:Nrxn2 UTSW 19 6,540,728 (GRCm39) missense possibly damaging 0.81
R0305:Nrxn2 UTSW 19 6,569,313 (GRCm39) missense probably damaging 1.00
R0453:Nrxn2 UTSW 19 6,541,551 (GRCm39) missense probably damaging 1.00
R0512:Nrxn2 UTSW 19 6,567,228 (GRCm39) missense probably damaging 1.00
R0539:Nrxn2 UTSW 19 6,543,434 (GRCm39) missense probably damaging 0.99
R0571:Nrxn2 UTSW 19 6,523,563 (GRCm39) missense probably damaging 1.00
R1373:Nrxn2 UTSW 19 6,522,331 (GRCm39) missense probably damaging 1.00
R1434:Nrxn2 UTSW 19 6,493,642 (GRCm39) splice site probably null
R1454:Nrxn2 UTSW 19 6,531,476 (GRCm39) missense probably damaging 0.98
R1671:Nrxn2 UTSW 19 6,523,780 (GRCm39) missense probably damaging 1.00
R1692:Nrxn2 UTSW 19 6,569,298 (GRCm39) missense probably damaging 1.00
R1858:Nrxn2 UTSW 19 6,538,825 (GRCm39) missense probably benign 0.01
R1859:Nrxn2 UTSW 19 6,538,825 (GRCm39) missense probably benign 0.01
R2153:Nrxn2 UTSW 19 6,554,944 (GRCm39) missense probably damaging 1.00
R2196:Nrxn2 UTSW 19 6,540,139 (GRCm39) missense probably damaging 1.00
R2209:Nrxn2 UTSW 19 6,543,037 (GRCm39) missense probably benign 0.01
R2278:Nrxn2 UTSW 19 6,531,883 (GRCm39) missense probably damaging 1.00
R2441:Nrxn2 UTSW 19 6,478,331 (GRCm39) missense probably damaging 1.00
R3897:Nrxn2 UTSW 19 6,569,287 (GRCm39) missense probably damaging 1.00
R3943:Nrxn2 UTSW 19 6,523,365 (GRCm39) missense probably damaging 1.00
R4091:Nrxn2 UTSW 19 6,523,444 (GRCm39) missense probably damaging 1.00
R4162:Nrxn2 UTSW 19 6,582,173 (GRCm39) missense probably damaging 1.00
R4164:Nrxn2 UTSW 19 6,582,173 (GRCm39) missense probably damaging 1.00
R4495:Nrxn2 UTSW 19 6,581,429 (GRCm39) missense probably benign 0.05
R4599:Nrxn2 UTSW 19 6,505,282 (GRCm39) missense probably damaging 0.98
R4735:Nrxn2 UTSW 19 6,548,484 (GRCm39) missense possibly damaging 0.86
R4757:Nrxn2 UTSW 19 6,559,851 (GRCm39) missense probably damaging 1.00
R4890:Nrxn2 UTSW 19 6,498,308 (GRCm39) missense possibly damaging 0.90
R5052:Nrxn2 UTSW 19 6,505,234 (GRCm39) missense probably damaging 1.00
R5311:Nrxn2 UTSW 19 6,581,428 (GRCm39) missense probably benign 0.05
R5330:Nrxn2 UTSW 19 6,540,111 (GRCm39) missense probably damaging 0.96
R5331:Nrxn2 UTSW 19 6,540,111 (GRCm39) missense probably damaging 0.96
R5530:Nrxn2 UTSW 19 6,548,397 (GRCm39) missense possibly damaging 0.93
R5556:Nrxn2 UTSW 19 6,540,121 (GRCm39) missense probably damaging 1.00
R5763:Nrxn2 UTSW 19 6,581,369 (GRCm39) missense probably benign 0.15
R5829:Nrxn2 UTSW 19 6,540,879 (GRCm39) missense probably benign 0.03
R5988:Nrxn2 UTSW 19 6,542,901 (GRCm39) missense possibly damaging 0.83
R6003:Nrxn2 UTSW 19 6,548,358 (GRCm39) missense possibly damaging 0.93
R6032:Nrxn2 UTSW 19 6,567,162 (GRCm39) missense probably damaging 1.00
R6032:Nrxn2 UTSW 19 6,567,162 (GRCm39) missense probably damaging 1.00
R6288:Nrxn2 UTSW 19 6,540,591 (GRCm39) missense probably damaging 1.00
R6334:Nrxn2 UTSW 19 6,581,322 (GRCm39) splice site probably null
R6373:Nrxn2 UTSW 19 6,559,860 (GRCm39) missense probably damaging 1.00
R6397:Nrxn2 UTSW 19 6,582,152 (GRCm39) missense probably damaging 1.00
R6669:Nrxn2 UTSW 19 6,531,221 (GRCm39) missense probably damaging 1.00
R6980:Nrxn2 UTSW 19 6,500,609 (GRCm39) missense probably benign 0.04
R6985:Nrxn2 UTSW 19 6,531,275 (GRCm39) missense probably damaging 1.00
R7184:Nrxn2 UTSW 19 6,540,582 (GRCm39) missense probably damaging 1.00
R7361:Nrxn2 UTSW 19 6,567,112 (GRCm39) missense probably benign 0.00
R7576:Nrxn2 UTSW 19 6,581,540 (GRCm39) nonsense probably null
R7604:Nrxn2 UTSW 19 6,581,991 (GRCm39) missense probably damaging 1.00
R7631:Nrxn2 UTSW 19 6,531,825 (GRCm39) missense possibly damaging 0.83
R7768:Nrxn2 UTSW 19 6,531,409 (GRCm39) missense possibly damaging 0.69
R7805:Nrxn2 UTSW 19 6,581,736 (GRCm39) missense probably benign
R7896:Nrxn2 UTSW 19 6,582,083 (GRCm39) missense possibly damaging 0.89
R7998:Nrxn2 UTSW 19 6,559,905 (GRCm39) missense probably damaging 0.98
R8383:Nrxn2 UTSW 19 6,522,343 (GRCm39) missense probably damaging 1.00
R8505:Nrxn2 UTSW 19 6,540,163 (GRCm39) missense probably damaging 1.00
R8843:Nrxn2 UTSW 19 6,555,057 (GRCm39) missense probably damaging 1.00
R8881:Nrxn2 UTSW 19 6,554,920 (GRCm39) missense probably benign 0.07
R9086:Nrxn2 UTSW 19 6,540,108 (GRCm39) missense probably damaging 1.00
R9139:Nrxn2 UTSW 19 6,498,299 (GRCm39) missense probably benign 0.02
R9420:Nrxn2 UTSW 19 6,581,931 (GRCm39) missense probably benign 0.40
R9445:Nrxn2 UTSW 19 6,522,448 (GRCm39) missense probably damaging 0.99
R9564:Nrxn2 UTSW 19 6,559,887 (GRCm39) missense probably damaging 1.00
R9609:Nrxn2 UTSW 19 6,540,203 (GRCm39) missense probably damaging 1.00
R9708:Nrxn2 UTSW 19 6,581,882 (GRCm39) missense probably benign 0.00
R9794:Nrxn2 UTSW 19 6,567,064 (GRCm39) missense possibly damaging 0.48
X0022:Nrxn2 UTSW 19 6,559,947 (GRCm39) missense probably damaging 1.00
Z1177:Nrxn2 UTSW 19 6,548,547 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16