Incidental Mutation 'R3888:Ntf3'
ID 312863
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT-3, Ntf-3, NT3
MMRRC Submission 040800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126101412-126166910 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126102442 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 21 (M21V)
Ref Sequence ENSEMBL: ENSMUSP00000052302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect probably benign
Transcript: ENSMUST00000050484
AA Change: M21V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: M21V

signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112244
AA Change: M34V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: M34V

transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204542
AA Change: M34V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: M34V

transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,940,551 (GRCm38) probably null Het
Acbd6 A G 1: 155,624,897 (GRCm38) D201G probably damaging Het
Adam17 G A 12: 21,325,587 (GRCm38) R744C probably damaging Het
Adss2 A G 1: 177,767,769 (GRCm38) Y402H probably damaging Het
Ano3 T A 2: 110,885,000 (GRCm38) K31I probably damaging Het
B930094E09Rik G A 18: 31,609,689 (GRCm38) S59N unknown Het
Cmya5 T G 13: 93,093,656 (GRCm38) R1641S probably benign Het
Cps1 C A 1: 67,165,500 (GRCm38) T493K possibly damaging Het
Dmxl1 T A 18: 49,878,259 (GRCm38) M1161K probably damaging Het
Etl4 C T 2: 20,529,961 (GRCm38) Q76* probably null Het
Fn1 T C 1: 71,640,306 (GRCm38) Y511C probably damaging Het
Foxd2 T C 4: 114,908,286 (GRCm38) H179R unknown Het
Frem1 T C 4: 82,913,607 (GRCm38) R1991G probably benign Het
Gimap7 G A 6: 48,723,845 (GRCm38) E122K probably benign Het
Hps3 A G 3: 20,003,223 (GRCm38) probably null Het
Kctd2 A T 11: 115,427,519 (GRCm38) K209N probably damaging Het
Lcor T A 19: 41,558,356 (GRCm38) S126R probably damaging Het
Lct T C 1: 128,304,226 (GRCm38) M629V probably damaging Het
Lrp5 G A 19: 3,612,330 (GRCm38) R173C probably damaging Het
Muc5ac T C 7: 141,791,224 (GRCm38) V144A possibly damaging Het
Mypn T C 10: 63,192,510 (GRCm38) Y258C probably damaging Het
Or4a71 T A 2: 89,527,732 (GRCm38) H226L possibly damaging Het
Or5b97 A T 19: 12,901,133 (GRCm38) C216S probably benign Het
Or6c1 G A 10: 129,682,218 (GRCm38) H174Y possibly damaging Het
Or6c1 A T 10: 129,682,219 (GRCm38) D173E probably benign Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rbm45 A G 2: 76,375,424 (GRCm38) S207G probably benign Het
Robo3 G A 9: 37,422,181 (GRCm38) Q723* probably null Het
Rreb1 G T 13: 37,893,965 (GRCm38) R51L probably damaging Het
Slc12a6 T A 2: 112,267,030 (GRCm38) L70Q possibly damaging Het
Slc15a2 A G 16: 36,782,304 (GRCm38) F65S probably damaging Het
Slitrk5 T A 14: 111,679,797 (GRCm38) C284* probably null Het
Smim17 G T 7: 6,429,280 (GRCm38) G74C probably damaging Het
Snapc4 G A 2: 26,365,498 (GRCm38) Q1005* probably null Het
Suv39h2 G A 2: 3,464,808 (GRCm38) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,437,745 (GRCm38) Q191* probably null Het
Trak1 G T 9: 121,442,797 (GRCm38) probably null Het
Ttn A G 2: 76,710,274 (GRCm38) S25796P probably damaging Het
Ugp2 T C 11: 21,353,366 (GRCm38) R80G probably benign Het
Utp15 C T 13: 98,259,166 (GRCm38) V103I probably benign Het
Wdr3 A T 3: 100,153,906 (GRCm38) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm38) D86E probably damaging Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Ntf3 APN 6 126,101,860 (GRCm38) missense probably damaging 0.99
IGL02982:Ntf3 APN 6 126,102,377 (GRCm38) missense probably damaging 0.99
PIT4403001:Ntf3 UTSW 6 126,101,826 (GRCm38) missense probably damaging 1.00
R0026:Ntf3 UTSW 6 126,101,805 (GRCm38) missense probably damaging 1.00
R1219:Ntf3 UTSW 6 126,102,211 (GRCm38) missense possibly damaging 0.93
R1666:Ntf3 UTSW 6 126,102,438 (GRCm38) missense possibly damaging 0.70
R1822:Ntf3 UTSW 6 126,102,246 (GRCm38) missense probably benign 0.10
R1920:Ntf3 UTSW 6 126,102,522 (GRCm38) missense possibly damaging 0.46
R2255:Ntf3 UTSW 6 126,101,726 (GRCm38) makesense probably null
R4196:Ntf3 UTSW 6 126,102,175 (GRCm38) missense probably benign 0.41
R6707:Ntf3 UTSW 6 126,164,728 (GRCm38) critical splice donor site probably null
R6983:Ntf3 UTSW 6 126,101,845 (GRCm38) missense probably damaging 0.98
R7357:Ntf3 UTSW 6 126,101,998 (GRCm38) missense probably damaging 1.00
R7663:Ntf3 UTSW 6 126,101,815 (GRCm38) missense probably damaging 1.00
R7895:Ntf3 UTSW 6 126,102,240 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-30