Incidental Mutation 'R1219:Ntf3'
ID 99913
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
MMRRC Submission 039288-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1219 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 126078375-126143703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126079174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 98 (R98S)
Ref Sequence ENSEMBL: ENSMUSP00000052302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect possibly damaging
Transcript: ENSMUST00000050484
AA Change: R98S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: R98S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112244
AA Change: R111S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: R111S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204542
AA Change: R111S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: R111S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Meta Mutation Damage Score 0.3193 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 A G 15: 57,998,307 (GRCm39) S22P probably benign Het
Atrn A T 2: 130,862,927 (GRCm39) T1336S possibly damaging Het
Bltp1 T A 3: 37,000,619 (GRCm39) L1266* probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc113 T C 8: 96,264,895 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,802,040 (GRCm39) probably benign Het
Ciao3 T C 17: 25,994,075 (GRCm39) I41T probably damaging Het
Dcun1d3 G T 7: 119,458,631 (GRCm39) Q135K probably damaging Het
Dnah7b A C 1: 46,379,280 (GRCm39) E3671D probably benign Het
Eea1 A G 10: 95,846,623 (GRCm39) probably benign Het
Entrep3 T C 3: 89,091,155 (GRCm39) V42A probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm5111 A G 6: 48,567,328 (GRCm39) probably benign Het
Golga3 G T 5: 110,332,215 (GRCm39) E50* probably null Het
Junb T C 8: 85,704,268 (GRCm39) E264G probably damaging Het
Kash5 A G 7: 44,838,832 (GRCm39) probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Krt18 T C 15: 101,939,723 (GRCm39) probably benign Het
Man1a G A 10: 53,795,249 (GRCm39) probably benign Het
Mapkbp1 G T 2: 119,849,831 (GRCm39) G768* probably null Het
Mybpc2 A C 7: 44,165,458 (GRCm39) probably null Het
Nectin3 A T 16: 46,275,042 (GRCm39) C238* probably null Het
Nup153 T G 13: 46,840,695 (GRCm39) Q971P probably benign Het
Nup155 A G 15: 8,146,822 (GRCm39) T221A possibly damaging Het
Ppp2r1b T C 9: 50,778,621 (GRCm39) probably benign Het
Prkd1 A T 12: 50,435,125 (GRCm39) V534E probably damaging Het
Rabep2 A G 7: 126,028,799 (GRCm39) E26G probably damaging Het
Rnf213 C A 11: 119,327,003 (GRCm39) N1663K probably damaging Het
Slc1a1 G A 19: 28,882,146 (GRCm39) probably benign Het
Slc36a4 T C 9: 15,634,832 (GRCm39) Y125H probably damaging Het
Slc6a11 G A 6: 114,202,772 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,578 (GRCm39) probably null Het
Sumf2 G T 5: 129,883,613 (GRCm39) A164S probably benign Het
Sv2b T C 7: 74,786,160 (GRCm39) D420G probably benign Het
Ube2v1 T C 2: 167,459,831 (GRCm39) D56G probably benign Het
Ung A G 5: 114,270,228 (GRCm39) probably benign Het
Vcan T C 13: 89,828,023 (GRCm39) Y2181C probably damaging Het
Vmn1r238 G A 18: 3,123,135 (GRCm39) T93I possibly damaging Het
Vmn2r14 A C 5: 109,372,440 (GRCm39) S17A probably benign Het
Vmn2r25 A G 6: 123,816,282 (GRCm39) V433A probably benign Het
Zfp36l2 A G 17: 84,495,070 (GRCm39) probably null Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp839 A G 12: 110,834,707 (GRCm39) D654G possibly damaging 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
R0026:Ntf3 UTSW 6 126,078,768 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGTCCCCGAATGTCAATGGCTGAG -3'
(R):5'- TCATCATCAAGCTGATCCAGGCG -3'

Sequencing Primer
(F):5'- CTGAGGACTTGTCGGTCAC -3'
(R):5'- GCTTTCCAAACAGATGGTGGAT -3'
Posted On 2014-01-15