Incidental Mutation 'IGL02982:Ntf3'
ID 406586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT-3, Ntf-3, NT3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 6
Chromosomal Location 126101412-126166910 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126102377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 55 (D55E)
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect probably damaging
Transcript: ENSMUST00000050484
AA Change: D42E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: D42E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112244
AA Change: D55E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: D55E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204542
AA Change: D55E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: D55E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Ntf3 APN 6 126101860 missense probably damaging 0.99
PIT4403001:Ntf3 UTSW 6 126101826 missense probably damaging 1.00
R0026:Ntf3 UTSW 6 126101805 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 On 2016-08-02