Incidental Mutation 'R4869:Nrxn3'
ID 376444
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 042479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4869 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 88689646-90301709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88762352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 133 (E133G)
Ref Sequence ENSEMBL: ENSMUSP00000127407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000190626]
AlphaFold Q6P9K9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110138
Predicted Effect possibly damaging
Transcript: ENSMUST00000163134
AA Change: E133G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: E133G

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 noncoding transcript
Transcript: ENSMUST00000163944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164072
Predicted Effect possibly damaging
Transcript: ENSMUST00000167103
AA Change: E133G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: E133G

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 noncoding transcript
Transcript: ENSMUST00000167734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190030
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
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (102/103)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,161,488 (GRCm39) K943N probably damaging Het
Abca13 G A 11: 9,265,434 (GRCm39) probably null Het
Ankub1 A G 3: 57,597,751 (GRCm39) L73P probably damaging Het
Birc6 A G 17: 74,893,007 (GRCm39) I982V probably benign Het
Cabyr G T 18: 12,884,875 (GRCm39) *454L probably null Het
Ccdc57 C T 11: 120,794,344 (GRCm39) probably null Het
Cd209c A G 8: 3,994,077 (GRCm39) F128L probably benign Het
Cdh23 A T 10: 60,212,713 (GRCm39) I1566N probably damaging Het
Cdon T C 9: 35,364,200 (GRCm39) V106A possibly damaging Het
Cebpa G T 7: 34,819,246 (GRCm39) G135C probably damaging Het
Cfap65 A G 1: 74,958,420 (GRCm39) S896P probably benign Het
Ciz1 T C 2: 32,254,247 (GRCm39) S63P probably damaging Het
Clybl G A 14: 122,621,618 (GRCm39) V269M probably damaging Het
Ctnnb1 G T 9: 120,782,060 (GRCm39) V358L possibly damaging Het
Cwh43 G T 5: 73,586,016 (GRCm39) probably null Het
Cyp2d10 G A 15: 82,287,967 (GRCm39) R379C probably benign Het
Dab2ip C A 2: 35,610,049 (GRCm39) R727S probably damaging Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dock1 A T 7: 134,335,800 (GRCm39) I65F probably damaging Het
Ercc2 T C 7: 19,120,732 (GRCm39) V155A probably damaging Het
Exph5 A C 9: 53,287,539 (GRCm39) D1540A possibly damaging Het
Fat3 T A 9: 16,288,773 (GRCm39) H250L probably damaging Het
Fbxw10 C A 11: 62,753,557 (GRCm39) A517E probably damaging Het
Furin A T 7: 80,046,727 (GRCm39) N176K probably damaging Het
Gabrb3 A G 7: 57,442,207 (GRCm39) probably benign Het
Gabrg2 A T 11: 41,811,231 (GRCm39) S305T probably damaging Het
Gas6 G T 8: 13,525,086 (GRCm39) S299R possibly damaging Het
Gga3 G T 11: 115,477,111 (GRCm39) probably benign Het
Gle1 A G 2: 29,826,032 (GRCm39) E37G possibly damaging Het
Gm7964 A G 7: 83,405,350 (GRCm39) D80G possibly damaging Het
Gne C T 4: 44,055,204 (GRCm39) probably null Het
Grid2 G T 6: 64,406,724 (GRCm39) G695W probably damaging Het
H2-M10.6 A T 17: 37,123,425 (GRCm39) M40L probably benign Het
Hectd4 G T 5: 121,460,735 (GRCm39) V905L possibly damaging Het
Isyna1 C A 8: 71,049,412 (GRCm39) S441R possibly damaging Het
Kcnh3 C T 15: 99,139,913 (GRCm39) S933L probably benign Het
Knl1 T C 2: 118,902,832 (GRCm39) I1511T possibly damaging Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Lipo4 C T 19: 33,478,953 (GRCm39) probably null Het
Llgl1 T A 11: 60,598,036 (GRCm39) L360* probably null Het
Map2k5 G A 9: 63,229,525 (GRCm39) R169* probably null Het
Muc19 A T 15: 91,781,910 (GRCm39) noncoding transcript Het
Muc4 G A 16: 32,754,836 (GRCm38) probably benign Het
Myh4 A G 11: 67,143,490 (GRCm39) E1074G probably damaging Het
Naip5 C T 13: 100,381,639 (GRCm39) G210E probably damaging Het
Nalcn A G 14: 123,837,296 (GRCm39) S23P probably benign Het
Nepro T A 16: 44,550,536 (GRCm39) M176K probably damaging Het
Nlrp6 G A 7: 140,504,006 (GRCm39) C704Y probably damaging Het
Notch1 A G 2: 26,361,191 (GRCm39) S1100P probably benign Het
Obi1 A G 14: 104,716,252 (GRCm39) I707T probably damaging Het
Parp9 T C 16: 35,777,274 (GRCm39) L406S probably damaging Het
Peak1 G T 9: 56,134,876 (GRCm39) A155D probably benign Het
Piezo1 G A 8: 123,214,284 (GRCm39) H1628Y probably benign Het
Piwil2 A G 14: 70,632,811 (GRCm39) V587A probably benign Het
Pkn2 A G 3: 142,509,379 (GRCm39) Y722H probably damaging Het
Plch2 A T 4: 155,073,885 (GRCm39) I834K probably benign Het
Pld1 A G 3: 28,163,951 (GRCm39) T795A possibly damaging Het
Plekhh1 A G 12: 79,097,160 (GRCm39) S103G probably benign Het
Ppl T C 16: 4,922,753 (GRCm39) Y246C probably damaging Het
Prpf40b G A 15: 99,207,726 (GRCm39) probably benign Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp3 T A 4: 59,524,443 (GRCm39) I28F possibly damaging Het
Ptrh2 A T 11: 86,580,631 (GRCm39) K83* probably null Het
Rai1 T C 11: 60,077,588 (GRCm39) S551P probably damaging Het
Rapgefl1 A T 11: 98,741,935 (GRCm39) Q633L probably damaging Het
Rb1cc1 T C 1: 6,285,245 (GRCm39) probably benign Het
Rif1 T A 2: 51,983,623 (GRCm39) probably benign Het
Rnf141 A G 7: 110,424,557 (GRCm39) Y101H probably damaging Het
Rttn T A 18: 89,061,138 (GRCm39) L1102* probably null Het
Sall4 G A 2: 168,597,637 (GRCm39) S401F probably damaging Het
Saxo5 G A 8: 3,537,148 (GRCm39) S498N probably damaging Het
Sec11c T C 18: 65,934,541 (GRCm39) I36T probably benign Het
Sel1l A G 12: 91,780,828 (GRCm39) probably benign Het
Setd1a T C 7: 127,396,776 (GRCm39) probably benign Het
Sez6l2 C T 7: 126,561,014 (GRCm39) P433L probably benign Het
Sgf29 T C 7: 126,248,547 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,253,520 (GRCm39) V305A probably benign Het
Slco1a8 T C 6: 141,933,492 (GRCm39) D431G probably damaging Het
Sun2 T C 15: 79,612,587 (GRCm39) probably benign Het
Tecta T C 9: 42,286,830 (GRCm39) S609G probably benign Het
Tmprss6 T A 15: 78,327,880 (GRCm39) probably null Het
Tns1 T C 1: 73,991,774 (GRCm39) H968R probably benign Het
Tomm34 G A 2: 163,896,637 (GRCm39) A270V probably damaging Het
Tpo T C 12: 30,153,364 (GRCm39) K330R probably benign Het
Ttn T A 2: 76,542,837 (GRCm39) Y33383F probably damaging Het
Unc13c G T 9: 73,587,716 (GRCm39) A1439D probably benign Het
Vcp C T 4: 42,993,691 (GRCm39) R147H probably benign Het
Vps13d A G 4: 144,854,612 (GRCm39) L2272P probably damaging Het
Wdfy3 A G 5: 102,042,787 (GRCm39) L1988P probably damaging Het
Wwc2 A G 8: 48,373,713 (GRCm39) F51S probably damaging Het
Zfp454 C T 11: 50,763,980 (GRCm39) C373Y probably damaging Het
Zfp853 A T 5: 143,274,048 (GRCm39) V473E probably damaging Het
Zfp959 A T 17: 56,204,228 (GRCm39) R85S possibly damaging 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
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
R9102:Nrxn3 UTSW 12 90,298,924 (GRCm39) missense probably benign 0.01
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'- AATGTTTCCACTGGGCTGCTC -3'
(R):5'- TTCTAACTGGACGCTCTGGC -3'

Sequencing Primer
(F):5'- CACTGGGCTGCTCCTGTATTTG -3'
(R):5'- CTCCCCAGAAGCCGAGGTTC -3'
Posted On 2016-03-17