Incidental Mutation 'R0026:Ntf3'
ID 15097
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0026 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 126078375-126143703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126078768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 246 (N246I)
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect possibly damaging
Transcript: ENSMUST00000050484
AA Change: N233I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: N233I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112244
AA Change: N246I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: N246I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204542
AA Change: N246I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: N246I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Meta Mutation Damage Score 0.2520 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Asph A C 4: 9,601,361 (GRCm39) S129A probably damaging Het
Atrn T C 2: 130,799,840 (GRCm39) Y406H probably damaging Het
B4galt3 C T 1: 171,101,831 (GRCm39) probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Ccdc187 T C 2: 26,171,365 (GRCm39) D371G probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dock5 C A 14: 68,083,530 (GRCm39) E126D probably benign Het
Exph5 A T 9: 53,287,779 (GRCm39) D1620V probably benign Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Fli1 A G 9: 32,387,880 (GRCm39) Y37H probably damaging Het
Gm17521 G A X: 121,939,239 (GRCm39) S43L probably benign Het
Gnb3 A G 6: 124,814,380 (GRCm39) V135A probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Ighv1-58 G A 12: 115,275,907 (GRCm39) T77I probably benign Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Pds5b G A 5: 150,673,295 (GRCm39) probably benign Het
Ppp3cb C T 14: 20,581,836 (GRCm39) V60I probably benign Het
Prc1 T C 7: 79,960,809 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc44a5 G A 3: 153,945,907 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Trim6 T A 7: 103,875,016 (GRCm39) probably null Het
Ttn T C 2: 76,599,534 (GRCm39) T19186A probably damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Usp32 T C 11: 84,922,900 (GRCm39) S673G possibly damaging Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Vwa3a A G 7: 120,379,434 (GRCm39) Q513R probably damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Ntf3 APN 6 126,078,823 (GRCm39) missense probably damaging 0.99
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
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 2012-12-12