Incidental Mutation 'R6707:Ntf3'
ID 528975
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
MMRRC Submission 044825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6707 (G1)
Quality Score 191.009
Status Validated
Chromosome 6
Chromosomal Location 126078375-126143703 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 126141691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect probably benign
Transcript: ENSMUST00000050484
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112244
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204542
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Meta Mutation Damage Score 0.9500 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
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
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Actg2 C T 6: 83,490,076 (GRCm39) W341* probably null Het
Adam29 C T 8: 56,325,135 (GRCm39) G440R probably damaging Het
Arfgef3 T C 10: 18,496,903 (GRCm39) D1153G probably benign Het
Arhgef28 T C 13: 98,211,624 (GRCm39) T120A possibly damaging Het
Arhgef28 G T 13: 98,073,224 (GRCm39) Q1371K probably damaging Het
BC051665 A T 13: 60,932,222 (GRCm39) D122E probably benign Het
Boc A T 16: 44,320,979 (GRCm39) I227N possibly damaging Het
Clca3b T A 3: 144,550,288 (GRCm39) Q219L probably benign Het
Cplane1 G A 15: 8,252,606 (GRCm39) V1943M probably benign Het
Cyp2c66 T A 19: 39,174,944 (GRCm39) F448Y probably damaging Het
Ddx5 A G 11: 106,673,058 (GRCm39) M489T probably benign Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Ecpas T A 4: 58,879,101 (GRCm39) I63L possibly damaging Het
Eqtn T C 4: 94,796,056 (GRCm39) D215G probably benign Het
Evi5l A T 8: 4,256,322 (GRCm39) T706S probably benign Het
Gtf2f1 T C 17: 57,314,770 (GRCm39) E90G probably benign Het
Hpx A T 7: 105,244,682 (GRCm39) S168T probably benign Het
Ipo4 C A 14: 55,866,361 (GRCm39) V773L possibly damaging Het
Ireb2 C T 9: 54,811,245 (GRCm39) T716I probably damaging Het
Klhl21 A G 4: 152,096,784 (GRCm39) D350G possibly damaging Het
Myh13 A T 11: 67,241,086 (GRCm39) N821I probably damaging Het
Nipbl G T 15: 8,354,043 (GRCm39) T1698K probably benign Het
Nod2 A G 8: 89,391,817 (GRCm39) H686R probably benign Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Or6c69 T C 10: 129,747,608 (GRCm39) T180A probably benign Het
Parp9 A T 16: 35,768,303 (GRCm39) H161L probably damaging Het
Pkhd1l1 A G 15: 44,392,539 (GRCm39) N1625D probably benign Het
Rdx T C 9: 51,974,954 (GRCm39) F30S probably damaging Het
Smo T A 6: 29,736,173 (GRCm39) V55E probably benign Het
Sox9 C A 11: 112,673,698 (GRCm39) N96K probably damaging Het
Spp2 T G 1: 88,345,016 (GRCm39) probably null Het
Tex46 A G 4: 136,340,161 (GRCm39) N82S probably benign Het
Timm22 C T 11: 76,298,151 (GRCm39) L41F possibly damaging Het
Tmem30a A T 9: 79,681,547 (GRCm39) Y207* probably null Het
Tmem70 T C 1: 16,747,531 (GRCm39) V216A probably damaging Het
Tspan18 T C 2: 93,040,302 (GRCm39) N151S probably benign Het
Vmn2r90 T C 17: 17,948,364 (GRCm39) C537R probably damaging Het
Vps50 A G 6: 3,545,583 (GRCm39) Y339C probably damaging Het
Zp2 C T 7: 119,733,145 (GRCm39) G599R 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
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
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'- GCTCAAACTTTGGGGAAGGC -3'
(R):5'- CAGAGTTGAAGGCTCCTCTC -3'

Sequencing Primer
(F):5'- CTCAAACTTTGGGGAAGGCACAAG -3'
(R):5'- AGAGTTGAAGGCTCCTCTCCTTAC -3'
Posted On 2018-07-24