Incidental Mutation 'IGL02552:Ntf3'
ID 298130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02552
Quality Score
Status
Chromosome 6
Chromosomal Location 126078375-126143703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126078823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 228 (N228D)
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect probably benign
Transcript: ENSMUST00000050484
AA Change: N215D

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: N215D

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112244
AA Change: N228D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: N228D

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204542
AA Change: N228D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: N228D

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the neurotrophins that have a wide variety of functions in both neural and non-neural tissues. The encoded preproprotein undergoes proteolytic processing to generate a noncovalently linked homodimeric mature protein that can bind to the transmembrane receptor tyrosine kinases to initiate a series of signaling events. Mice lacking the encoded protein exhibit severe defects in the peripheral nervous system including a complete lack of spinal proprioceptive afferents and their peripheral sense organs. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of peripheral sensory and sympathetic neurons, lack of spinal propioceptive afferents and their sense organs, impaired suckling and movement, and postnatal lethality. Heterozygotes show mild defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,208,145 (GRCm39) L178S probably damaging Het
Abca12 A G 1: 71,333,906 (GRCm39) Y1199H probably damaging Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Apc T A 18: 34,446,035 (GRCm39) M977K possibly damaging Het
Arhgap30 T A 1: 171,235,324 (GRCm39) L566Q probably damaging Het
Arhgap40 T A 2: 158,388,721 (GRCm39) W552R probably benign Het
Astn1 C T 1: 158,332,965 (GRCm39) S349F possibly damaging Het
Bard1 T C 1: 71,104,815 (GRCm39) probably benign Het
Batf2 T A 19: 6,221,537 (GRCm39) Y116N probably benign Het
Bltp3b T A 10: 89,642,605 (GRCm39) L10* probably null Het
Cbx6 T C 15: 79,713,094 (GRCm39) H111R probably damaging Het
Cd44 T A 2: 102,679,076 (GRCm39) N242I probably benign Het
Cdnf C T 2: 3,525,012 (GRCm39) Q184* probably null Het
Chd2 C A 7: 73,097,068 (GRCm39) probably benign Het
Cmtm6 G A 9: 114,566,374 (GRCm39) V88M probably damaging Het
Col24a1 C A 3: 145,179,962 (GRCm39) S1151R possibly damaging Het
Csta2 A G 16: 36,073,459 (GRCm39) E15G probably damaging Het
Degs1l T A 1: 180,882,463 (GRCm39) V75E possibly damaging Het
Dnajc2 T C 5: 21,988,061 (GRCm39) D6G probably damaging Het
Eif3a G A 19: 60,751,664 (GRCm39) probably benign Het
Fbn1 C A 2: 125,254,633 (GRCm39) C210F possibly damaging Het
Fmn2 T A 1: 174,523,286 (GRCm39) D1380E probably damaging Het
Fry A T 5: 150,304,375 (GRCm39) K588N probably damaging Het
Gm18856 G A 13: 14,139,805 (GRCm39) probably benign Het
Gpr37 G T 6: 25,688,686 (GRCm39) T137K probably benign Het
Gzmc T C 14: 56,472,039 (GRCm39) M1V probably null Het
Htr5a T C 5: 28,047,958 (GRCm39) V171A probably benign Het
Ints6l T C X: 55,500,557 (GRCm39) probably benign Het
Kcnma1 C T 14: 23,436,327 (GRCm39) probably null Het
Krt35 C T 11: 99,983,899 (GRCm39) G367D probably benign Het
Nlrp1b C T 11: 71,063,057 (GRCm39) V668I possibly damaging Het
Nlrp1b C T 11: 71,072,878 (GRCm39) V322I possibly damaging Het
Nup133 G A 8: 124,655,994 (GRCm39) R496W possibly damaging Het
Or4c10 T C 2: 89,760,903 (GRCm39) V250A probably benign Het
Or51i1 C A 7: 103,671,463 (GRCm39) G21W probably damaging Het
Pah C T 10: 87,414,707 (GRCm39) probably benign Het
Pan2 G T 10: 128,154,896 (GRCm39) W1112L probably damaging Het
Pkn3 G A 2: 29,970,879 (GRCm39) R209Q probably damaging Het
Plaa C T 4: 94,470,717 (GRCm39) probably null Het
Qprt C T 7: 126,708,027 (GRCm39) A135T probably damaging Het
Rbbp6 T G 7: 122,582,204 (GRCm39) S108A probably damaging Het
Smg1 T A 7: 117,795,117 (GRCm39) probably benign Het
Spink5 T A 18: 44,125,235 (GRCm39) C368S possibly damaging Het
Sptan1 T A 2: 29,908,486 (GRCm39) I1734N probably damaging Het
Stk38l C T 6: 146,669,031 (GRCm39) L170F probably damaging Het
Tesmin C T 19: 3,452,483 (GRCm39) probably benign Het
Tjp1 A T 7: 64,949,530 (GRCm39) C1697* probably null Het
Tmco4 T C 4: 138,785,690 (GRCm39) S587P probably benign Het
Tmem208 G A 8: 106,055,329 (GRCm39) probably null Het
Trim30d T C 7: 104,121,623 (GRCm39) Q224R probably damaging Het
Trpm7 T A 2: 126,682,699 (GRCm39) D390V probably damaging Het
Uba7 A G 9: 107,858,589 (GRCm39) I807V probably benign Het
Utp18 C A 11: 93,759,160 (GRCm39) C438F probably damaging Het
Vps13d T C 4: 144,899,707 (GRCm39) K191E possibly damaging Het
Wdr27 A G 17: 15,146,453 (GRCm39) S181P probably damaging Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02982:Ntf3 APN 6 126,079,340 (GRCm39) missense probably damaging 0.99
PIT4403001:Ntf3 UTSW 6 126,078,789 (GRCm39) missense probably damaging 1.00
R0026:Ntf3 UTSW 6 126,078,768 (GRCm39) missense probably damaging 1.00
R1219:Ntf3 UTSW 6 126,079,174 (GRCm39) missense possibly damaging 0.93
R1666:Ntf3 UTSW 6 126,079,401 (GRCm39) missense possibly damaging 0.70
R1822:Ntf3 UTSW 6 126,079,209 (GRCm39) missense probably benign 0.10
R1920:Ntf3 UTSW 6 126,079,485 (GRCm39) missense possibly damaging 0.46
R2255:Ntf3 UTSW 6 126,078,689 (GRCm39) makesense probably null
R3888:Ntf3 UTSW 6 126,079,405 (GRCm39) missense probably benign 0.18
R4196:Ntf3 UTSW 6 126,079,138 (GRCm39) missense probably benign 0.41
R6707:Ntf3 UTSW 6 126,141,691 (GRCm39) critical splice donor site probably null
R6983:Ntf3 UTSW 6 126,078,808 (GRCm39) missense probably damaging 0.98
R7357:Ntf3 UTSW 6 126,078,961 (GRCm39) missense probably damaging 1.00
R7663:Ntf3 UTSW 6 126,078,778 (GRCm39) missense probably damaging 1.00
R7895:Ntf3 UTSW 6 126,079,203 (GRCm39) missense probably benign
Posted On 2015-04-16