Incidental Mutation 'R0026:Ntf3'
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Nameneurotrophin 3
SynonymsNT-3, Ntf-3, NT3
MMRRC Submission 038321-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0026 (G1)
Quality Score
Status Validated
Chromosomal Location126101412-126166910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 126101805 bp
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]
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

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

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

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
4931408C20Rik T A 1: 26,683,369 D910V probably benign Het
Abca16 C T 7: 120,477,923 probably benign Het
Acot10 G A 15: 20,666,236 L140F probably benign Het
Asph A C 4: 9,601,361 S129A probably damaging Het
Atrn T C 2: 130,957,920 Y406H probably damaging Het
B4galt3 C T 1: 171,274,261 probably benign Het
BC016579 T C 16: 45,640,367 T113A probably benign Het
Bmpr1b A G 3: 141,870,733 L113P probably benign Het
Casq1 T C 1: 172,219,400 probably benign Het
Ccdc187 T C 2: 26,281,353 D371G probably benign Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cyp4b1 C T 4: 115,647,521 G56D possibly damaging Het
Dock5 C A 14: 67,846,081 E126D probably benign Het
Exph5 A T 9: 53,376,479 D1620V probably benign Het
Fancd2os G T 6: 113,597,691 T118N probably damaging Het
Fli1 A G 9: 32,476,584 Y37H probably damaging Het
Gm17521 G A X: 123,029,542 S43L probably benign Het
Gnb3 A G 6: 124,837,417 V135A probably benign Het
Ibtk A G 9: 85,690,303 V1278A probably benign Het
Ighv1-58 G A 12: 115,312,287 T77I probably benign Het
Lgsn T A 1: 31,203,443 V202D probably damaging Het
Madd A G 2: 91,175,708 F381L possibly damaging Het
Pds5b G A 5: 150,749,830 probably benign Het
Ppp3cb C T 14: 20,531,768 V60I probably benign Het
Prc1 T C 7: 80,311,061 probably benign Het
Prpf31 T A 7: 3,639,668 N413K probably benign Het
Rapgef5 T C 12: 117,689,161 S307P probably benign Het
Rbfox2 T C 15: 77,084,157 T435A possibly damaging Het
Senp1 T C 15: 98,076,668 R88G probably damaging Het
Slc35b1 T C 11: 95,390,642 S294P probably benign Het
Slc44a5 G A 3: 154,240,270 probably benign Het
Taf1d T A 9: 15,308,648 S64R probably damaging Het
Trim6 T A 7: 104,225,809 probably null Het
Ttn T C 2: 76,769,190 T19186A probably damaging Het
Uchl4 A T 9: 64,235,371 probably null Het
Usp32 T C 11: 85,032,074 S673G possibly damaging Het
Utrn T C 10: 12,726,196 probably benign Het
Vps13b T C 15: 35,923,301 I3774T possibly damaging Het
Vwa3a A G 7: 120,780,211 Q513R probably damaging Het
Yipf1 T A 4: 107,345,160 L240* probably null Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Ntf3 APN 6 126101860 missense probably damaging 0.99
IGL02982:Ntf3 APN 6 126102377 missense probably damaging 0.99
PIT4403001:Ntf3 UTSW 6 126101826 missense probably damaging 1.00
R1219:Ntf3 UTSW 6 126102211 missense possibly damaging 0.93
R1666:Ntf3 UTSW 6 126102438 missense possibly damaging 0.70
R1822:Ntf3 UTSW 6 126102246 missense probably benign 0.10
R1920:Ntf3 UTSW 6 126102522 missense possibly damaging 0.46
R2255:Ntf3 UTSW 6 126101726 makesense probably null
R3888:Ntf3 UTSW 6 126102442 missense probably benign 0.18
R4196:Ntf3 UTSW 6 126102175 missense probably benign 0.41
R6707:Ntf3 UTSW 6 126164728 critical splice donor site probably null
R6983:Ntf3 UTSW 6 126101845 missense probably damaging 0.98
R7357:Ntf3 UTSW 6 126101998 missense probably damaging 1.00
R7663:Ntf3 UTSW 6 126101815 missense probably damaging 1.00
R7895:Ntf3 UTSW 6 126102240 missense probably benign
Posted On2012-12-12