Incidental Mutation 'R4990:Nrxn3'
ID 386152
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 042584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4990 (G1)
Quality Score 221
Status Not validated
Chromosome 12
Chromosomal Location 88689646-90301709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89227244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 293 (I293N)
Ref Sequence ENSEMBL: ENSMUSP00000127926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057634] [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000167887] [ENSMUST00000190626]
AlphaFold Q6P9K9
Predicted Effect probably damaging
Transcript: ENSMUST00000057634
AA Change: I293N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: I293N

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 possibly damaging
Transcript: ENSMUST00000163134
AA Change: I666N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: I666N

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 damaging
Transcript: ENSMUST00000167103
AA Change: I666N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: I666N

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 probably damaging
Transcript: ENSMUST00000167887
AA Change: I293N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: I293N

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: ENSMUST00000190626
AA Change: I293N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392
AA Change: I293N

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 0.5737 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Cacna1b A G 2: 24,568,886 (GRCm39) probably null Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Megf6 A G 4: 154,351,683 (GRCm39) E1132G possibly damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G probably 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
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
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'- CGCCATGCTCAACTACGGTTAC -3'
(R):5'- ATGTGATCACGGGTATGCTTAG -3'

Sequencing Primer
(F):5'- TTACGTGGGCTGCATCCG -3'
(R):5'- TTCACAACTAGAAAGGATGAGTTCC -3'
Posted On 2016-05-10