Incidental Mutation 'R9102:Nrxn3'
ID 691776
Institutional Source Beutler Lab
Gene Symbol Nrxn3
Ensembl Gene ENSMUSG00000066392
Gene Name neurexin III
Synonyms 4933401A11Rik, D12Bwg0831e, neurexin III alpha, neurexin III alpha, neurexin III beta, neurexin III beta, 9330112C09Rik
MMRRC Submission 068916-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9102 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 88689646-90301709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90298924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1015 (S1015P)
Ref Sequence ENSEMBL: ENSMUSP00000050075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057634] [ENSMUST00000110130] [ENSMUST00000110133] [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000167887] [ENSMUST00000190626]
AlphaFold Q6P9K9
PDB Structure Crystal structure of beta-neurexin 3 without the splice insert 4 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000057634
AA Change: S1015P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: S1015P

DomainStartEndE-ValueType
LamG 94 246 3.28e-41 SMART
EGF 273 307 4.1e-2 SMART
LamG 332 470 4.87e-26 SMART
LamG 518 654 7.08e-37 SMART
EGF 688 722 1.99e1 SMART
LamG 750 907 1.14e-17 SMART
low complexity region 948 964 N/A INTRINSIC
low complexity region 1028 1043 N/A INTRINSIC
4.1m 1046 1064 4.38e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110130
AA Change: S482P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105757
Gene: ENSMUSG00000066392
AA Change: S482P

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamG 107 264 1.14e-17 SMART
Blast:LamG 294 410 6e-47 BLAST
low complexity region 492 507 N/A INTRINSIC
4.1m 510 528 4.38e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110133
AA Change: S345P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105760
Gene: ENSMUSG00000066392
AA Change: S345P

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamG 107 234 1.8e-20 SMART
Blast:LamG 264 330 1e-19 BLAST
low complexity region 358 373 N/A INTRINSIC
4.1m 376 394 4.38e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000163134
AA Change: S1486P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: S1486P

DomainStartEndE-ValueType
LamG 47 184 9.8e-31 SMART
EGF 201 235 8.07e-1 SMART
LamG 279 413 7.19e-38 SMART
LamG 467 619 3.28e-41 SMART
EGF 646 680 4.1e-2 SMART
LamG 705 843 4.87e-26 SMART
LamG 891 1027 7.08e-37 SMART
EGF 1052 1086 1.99e1 SMART
LamG 1114 1271 1.14e-17 SMART
low complexity region 1312 1328 N/A INTRINSIC
low complexity region 1395 1406 N/A INTRINSIC
low complexity region 1499 1514 N/A INTRINSIC
4.1m 1517 1535 4.38e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167103
SMART Domains Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392

DomainStartEndE-ValueType
LamG 47 184 9.8e-31 SMART
EGF 201 235 8.07e-1 SMART
LamG 279 413 7.19e-38 SMART
LamG 467 619 3.28e-41 SMART
EGF 646 680 4.1e-2 SMART
LamG 705 834 5.76e-28 SMART
LamG 882 1018 7.08e-37 SMART
EGF 1043 1077 1.99e1 SMART
LamG 1105 1262 1.14e-17 SMART
low complexity region 1303 1319 N/A INTRINSIC
low complexity region 1354 1382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167887
AA Change: S1015P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: S1015P

DomainStartEndE-ValueType
LamG 94 246 3.28e-41 SMART
EGF 273 307 4.1e-2 SMART
LamG 332 470 4.87e-26 SMART
LamG 518 654 7.08e-37 SMART
EGF 688 722 1.99e1 SMART
LamG 750 907 1.14e-17 SMART
low complexity region 948 964 N/A INTRINSIC
low complexity region 1028 1043 N/A INTRINSIC
4.1m 1046 1064 4.38e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190626
SMART Domains Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392

DomainStartEndE-ValueType
LamG 94 246 2.1e-43 SMART
EGF 273 307 2e-4 SMART
LamG 332 470 3.1e-28 SMART
LamG 518 654 4.4e-39 SMART
EGF 688 722 9.6e-2 SMART
LamG 750 877 1.1e-22 SMART
low complexity region 918 934 N/A INTRINSIC
low complexity region 972 1000 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. [provided by RefSeq, Dec 2012]
PHENOTYPE: Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam33 T C 2: 130,897,737 (GRCm39) Q227R probably benign Het
Adgrb2 G A 4: 129,912,802 (GRCm39) G1276D probably benign Het
Adra1b A G 11: 43,667,056 (GRCm39) S394P possibly damaging Het
Arap2 T A 5: 62,906,341 (GRCm39) H226L probably benign Het
Bckdk A G 7: 127,506,658 (GRCm39) D297G probably null Het
Brwd1 T C 16: 95,869,725 (GRCm39) T101A probably benign Het
Ciita A G 16: 10,324,565 (GRCm39) R166G probably benign Het
Cnksr1 A G 4: 133,956,323 (GRCm39) F587S probably damaging Het
Col4a1 A T 8: 11,253,007 (GRCm39) C1548S possibly damaging Het
Cxcl15 G T 5: 90,949,154 (GRCm39) M106I Het
Dennd6a T C 14: 26,350,689 (GRCm39) I598T probably damaging Het
Dlg5 G A 14: 24,199,567 (GRCm39) P1446S probably damaging Het
Dnah6 A T 6: 73,044,469 (GRCm39) I3214N probably benign Het
Dnmt3b T C 2: 153,518,703 (GRCm39) V622A probably damaging Het
Fam170b T A 14: 32,557,404 (GRCm39) S80T probably damaging Het
Fbxl13 G T 5: 21,837,801 (GRCm39) H45Q probably benign Het
Fbxo39 T C 11: 72,208,316 (GRCm39) F223L possibly damaging Het
Fndc3b C A 3: 27,523,014 (GRCm39) probably null Het
Gbp3 G C 3: 142,273,586 (GRCm39) V378L probably benign Het
Gc C T 5: 89,591,444 (GRCm39) S98N probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gpr158 A T 2: 21,830,078 (GRCm39) S708C probably damaging Het
Hmcn1 A T 1: 150,573,331 (GRCm39) M2106K probably benign Het
Hoxd11 T A 2: 74,513,274 (GRCm39) Y180N possibly damaging Het
Hydin A G 8: 111,235,546 (GRCm39) I1844V probably benign Het
Knl1 T C 2: 118,917,973 (GRCm39) I1777T probably benign Het
Krt33b A C 11: 99,915,846 (GRCm39) L300R probably damaging Het
Madd C T 2: 90,988,404 (GRCm39) A1208T probably benign Het
Meis2 T A 2: 115,694,760 (GRCm39) N461I probably benign Het
Mgat1 T A 11: 49,152,165 (GRCm39) V216E probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nrsn1 A G 13: 25,437,517 (GRCm39) M137T probably benign Het
Nudt22 T A 19: 6,972,119 (GRCm39) I166F probably benign Het
Or10d1b A C 9: 39,613,984 (GRCm39) V27G probably benign Het
Or5j1 C T 2: 86,879,171 (GRCm39) M136I possibly damaging Het
Or6k4 A T 1: 173,964,322 (GRCm39) N4I Het
Or6n2 T A 1: 173,897,176 (GRCm39) F104Y probably damaging Het
Or8b4 T A 9: 37,829,992 (GRCm39) I13N probably damaging Het
Or8g31-ps1 C T 9: 39,276,388 (GRCm39) P178S unknown Het
Pcdha4 T A 18: 37,087,630 (GRCm39) N604K probably damaging Het
Plxnc1 C T 10: 94,663,107 (GRCm39) V1181M probably damaging Het
Pms1 G C 1: 53,307,021 (GRCm39) H128Q probably benign Het
Prkar2b G A 12: 32,013,025 (GRCm39) H364Y probably benign Het
Pus7 A T 5: 23,957,380 (GRCm39) I357K possibly damaging Het
Rsf1 GCGGC GCGGCGGCGCCGGC 7: 97,229,138 (GRCm39) probably benign Het
Ryr3 T C 2: 112,508,906 (GRCm39) probably benign Het
Siglec1 T C 2: 130,915,389 (GRCm39) I1401V probably benign Het
Slc6a6 G T 6: 91,731,940 (GRCm39) V590L probably benign Het
Slc9b1 C T 3: 135,100,725 (GRCm39) P490L probably damaging Het
Sprn T C 7: 139,733,278 (GRCm39) D98G possibly damaging Het
Srrm4 T C 5: 116,620,563 (GRCm39) D55G unknown Het
Sugct A G 13: 17,497,833 (GRCm39) V280A probably benign Het
Tbx6 A G 7: 126,381,014 (GRCm39) E83G possibly damaging Het
Tmem120a T C 5: 135,765,455 (GRCm39) T209A probably benign Het
Top3a T C 11: 60,647,155 (GRCm39) R255G probably damaging Het
Trav6-1 T A 14: 52,876,008 (GRCm39) F13I probably benign Het
Tsnaxip1 A G 8: 106,568,622 (GRCm39) E410G probably benign Het
Ubr5 A G 15: 38,018,596 (GRCm39) V842A Het
Ubtf A G 11: 102,201,015 (GRCm39) probably null Het
Vwa3b G A 1: 37,174,593 (GRCm39) M1I probably null Het
Zfp518b T C 5: 38,831,181 (GRCm39) T275A probably benign Het
Other mutations in Nrxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Nrxn3 APN 12 90,171,366 (GRCm39) missense probably damaging 1.00
IGL00961:Nrxn3 APN 12 90,171,320 (GRCm39) missense possibly damaging 0.95
IGL01073:Nrxn3 APN 12 89,221,510 (GRCm39) missense probably benign 0.25
IGL01338:Nrxn3 APN 12 89,221,804 (GRCm39) missense possibly damaging 0.86
IGL01377:Nrxn3 APN 12 89,499,782 (GRCm39) critical splice donor site probably null
IGL01409:Nrxn3 APN 12 89,477,128 (GRCm39) missense probably damaging 1.00
IGL01764:Nrxn3 APN 12 90,171,524 (GRCm39) missense possibly damaging 0.48
IGL02063:Nrxn3 APN 12 88,762,565 (GRCm39) missense possibly damaging 0.86
IGL02171:Nrxn3 APN 12 89,159,933 (GRCm39) missense probably damaging 1.00
IGL02309:Nrxn3 APN 12 89,943,175 (GRCm39) missense probably damaging 0.99
IGL02340:Nrxn3 APN 12 90,171,402 (GRCm39) missense possibly damaging 0.82
IGL02343:Nrxn3 APN 12 88,762,123 (GRCm39) missense probably damaging 1.00
IGL02600:Nrxn3 APN 12 89,478,682 (GRCm39) splice site probably benign
IGL02735:Nrxn3 APN 12 89,221,624 (GRCm39) missense probably benign 0.16
IGL03061:Nrxn3 APN 12 89,478,698 (GRCm39) nonsense probably null
IGL03206:Nrxn3 APN 12 89,227,278 (GRCm39) missense possibly damaging 0.88
IGL03337:Nrxn3 APN 12 89,221,790 (GRCm39) missense probably damaging 1.00
R0098:Nrxn3 UTSW 12 89,226,971 (GRCm39) missense probably damaging 1.00
R0098:Nrxn3 UTSW 12 89,226,971 (GRCm39) missense probably damaging 1.00
R0144:Nrxn3 UTSW 12 89,315,162 (GRCm39) missense probably damaging 1.00
R0334:Nrxn3 UTSW 12 89,780,412 (GRCm39) critical splice donor site probably null
R0531:Nrxn3 UTSW 12 88,762,112 (GRCm39) missense probably damaging 1.00
R0840:Nrxn3 UTSW 12 90,298,567 (GRCm39) missense possibly damaging 0.68
R1324:Nrxn3 UTSW 12 89,221,466 (GRCm39) missense possibly damaging 0.89
R1438:Nrxn3 UTSW 12 90,298,909 (GRCm39) missense probably damaging 1.00
R1484:Nrxn3 UTSW 12 89,221,547 (GRCm39) missense probably damaging 0.99
R1621:Nrxn3 UTSW 12 88,762,480 (GRCm39) missense probably benign
R1637:Nrxn3 UTSW 12 89,321,238 (GRCm39) missense possibly damaging 0.94
R1659:Nrxn3 UTSW 12 90,299,165 (GRCm39) missense probably damaging 1.00
R1746:Nrxn3 UTSW 12 89,221,789 (GRCm39) missense possibly damaging 0.63
R1801:Nrxn3 UTSW 12 90,250,356 (GRCm39) missense probably damaging 1.00
R1912:Nrxn3 UTSW 12 88,762,112 (GRCm39) missense probably damaging 1.00
R1940:Nrxn3 UTSW 12 89,227,151 (GRCm39) missense probably damaging 0.98
R1993:Nrxn3 UTSW 12 89,227,181 (GRCm39) missense possibly damaging 0.59
R2002:Nrxn3 UTSW 12 90,299,089 (GRCm39) missense probably damaging 1.00
R2125:Nrxn3 UTSW 12 89,227,290 (GRCm39) splice site probably null
R2179:Nrxn3 UTSW 12 89,221,448 (GRCm39) missense probably damaging 1.00
R2207:Nrxn3 UTSW 12 89,315,082 (GRCm39) missense probably damaging 1.00
R2284:Nrxn3 UTSW 12 89,477,135 (GRCm39) missense probably damaging 1.00
R2433:Nrxn3 UTSW 12 89,943,160 (GRCm39) missense probably damaging 1.00
R2969:Nrxn3 UTSW 12 89,321,241 (GRCm39) missense probably damaging 1.00
R3053:Nrxn3 UTSW 12 89,221,871 (GRCm39) missense probably damaging 0.99
R3076:Nrxn3 UTSW 12 89,227,186 (GRCm39) missense probably damaging 1.00
R3078:Nrxn3 UTSW 12 89,227,186 (GRCm39) missense probably damaging 1.00
R4033:Nrxn3 UTSW 12 89,499,771 (GRCm39) missense probably damaging 1.00
R4222:Nrxn3 UTSW 12 89,499,762 (GRCm39) nonsense probably null
R4321:Nrxn3 UTSW 12 90,166,005 (GRCm39) missense probably damaging 1.00
R4470:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4471:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4472:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4686:Nrxn3 UTSW 12 89,477,421 (GRCm39) missense probably damaging 0.99
R4776:Nrxn3 UTSW 12 90,298,730 (GRCm39) missense possibly damaging 0.55
R4821:Nrxn3 UTSW 12 90,171,483 (GRCm39) missense probably damaging 0.99
R4869:Nrxn3 UTSW 12 88,762,352 (GRCm39) missense possibly damaging 0.95
R4910:Nrxn3 UTSW 12 89,227,130 (GRCm39) missense possibly damaging 0.72
R4960:Nrxn3 UTSW 12 88,761,971 (GRCm39) missense possibly damaging 0.79
R4990:Nrxn3 UTSW 12 89,227,244 (GRCm39) missense probably damaging 1.00
R4991:Nrxn3 UTSW 12 89,227,244 (GRCm39) missense probably damaging 1.00
R5057:Nrxn3 UTSW 12 89,221,804 (GRCm39) missense probably damaging 0.99
R5329:Nrxn3 UTSW 12 89,780,354 (GRCm39) missense possibly damaging 0.92
R5888:Nrxn3 UTSW 12 89,478,855 (GRCm39) missense possibly damaging 0.91
R6249:Nrxn3 UTSW 12 89,221,448 (GRCm39) missense probably damaging 1.00
R6264:Nrxn3 UTSW 12 90,299,011 (GRCm39) missense probably damaging 1.00
R6373:Nrxn3 UTSW 12 89,943,237 (GRCm39) missense probably damaging 1.00
R6401:Nrxn3 UTSW 12 89,221,770 (GRCm39) missense possibly damaging 0.46
R6434:Nrxn3 UTSW 12 88,762,285 (GRCm39) missense probably benign 0.32
R6528:Nrxn3 UTSW 12 89,479,819 (GRCm39) missense probably damaging 1.00
R6612:Nrxn3 UTSW 12 89,780,102 (GRCm39) intron probably benign
R6632:Nrxn3 UTSW 12 89,159,924 (GRCm39) missense probably damaging 1.00
R6874:Nrxn3 UTSW 12 90,298,964 (GRCm39) missense probably damaging 0.99
R7122:Nrxn3 UTSW 12 89,477,377 (GRCm39) missense probably damaging 1.00
R7328:Nrxn3 UTSW 12 88,762,345 (GRCm39) missense probably benign
R7352:Nrxn3 UTSW 12 88,817,063 (GRCm39) missense probably benign
R7425:Nrxn3 UTSW 12 89,479,870 (GRCm39) nonsense probably null
R7444:Nrxn3 UTSW 12 89,477,464 (GRCm39) missense probably damaging 1.00
R7483:Nrxn3 UTSW 12 89,477,232 (GRCm39) missense probably damaging 1.00
R7599:Nrxn3 UTSW 12 89,478,832 (GRCm39) missense probably benign
R7738:Nrxn3 UTSW 12 88,817,074 (GRCm39) missense possibly damaging 0.68
R7765:Nrxn3 UTSW 12 89,780,254 (GRCm39) missense probably benign 0.03
R8139:Nrxn3 UTSW 12 90,171,438 (GRCm39) missense probably benign 0.01
R8192:Nrxn3 UTSW 12 90,171,569 (GRCm39) missense probably benign 0.08
R8351:Nrxn3 UTSW 12 89,477,413 (GRCm39) missense probably damaging 1.00
R8368:Nrxn3 UTSW 12 90,298,815 (GRCm39) nonsense probably null
R8397:Nrxn3 UTSW 12 90,298,583 (GRCm39) missense probably benign 0.17
R8426:Nrxn3 UTSW 12 88,762,097 (GRCm39) missense possibly damaging 0.91
R8451:Nrxn3 UTSW 12 89,477,413 (GRCm39) missense probably damaging 1.00
R8777:Nrxn3 UTSW 12 89,227,234 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Nrxn3 UTSW 12 89,227,234 (GRCm39) missense probably damaging 1.00
R8844:Nrxn3 UTSW 12 89,153,920 (GRCm39) missense possibly damaging 0.88
R8870:Nrxn3 UTSW 12 90,171,560 (GRCm39) missense probably benign 0.00
R9043:Nrxn3 UTSW 12 89,227,252 (GRCm39) missense probably damaging 1.00
R9167:Nrxn3 UTSW 12 89,154,068 (GRCm39) missense probably damaging 1.00
R9445:Nrxn3 UTSW 12 89,499,737 (GRCm39) nonsense probably null
R9447:Nrxn3 UTSW 12 89,221,678 (GRCm39) missense probably benign 0.35
X0019:Nrxn3 UTSW 12 90,165,995 (GRCm39) missense probably damaging 1.00
Z1176:Nrxn3 UTSW 12 89,484,679 (GRCm39) missense possibly damaging 0.45
Z1176:Nrxn3 UTSW 12 89,153,825 (GRCm39) nonsense probably null
Z1177:Nrxn3 UTSW 12 90,298,619 (GRCm39) missense probably benign 0.05
Z1177:Nrxn3 UTSW 12 89,227,082 (GRCm39) missense probably damaging 1.00
Z1177:Nrxn3 UTSW 12 88,762,458 (GRCm39) missense probably benign 0.00
Z1177:Nrxn3 UTSW 12 90,298,888 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCAAAATGAATAACCGTGATCTC -3'
(R):5'- TCTTATGGCCGCTCTTGGAG -3'

Sequencing Primer
(F):5'- TCAAACCCCAGCCTGATATAGTCTTG -3'
(R):5'- CCTTCATGAGCGTGCCGTTG -3'
Posted On 2021-12-30