|Institutional Source||Beutler Lab|
|Gene Name||neurotrophin 5|
|Synonyms||NT4, 2900040K06Rik, NT4/5, Ntf-5, Ntf4, neurotrophin-4, NT-4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1905 (G1)|
|Chromosomal Location||45413695-45417179 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 45415752 bp|
|Amino Acid Change||Valine to Leucine at position 103 (V103L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057916 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000210347]|
|Predicted Effect||probably damaging
AA Change: V103L
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V103L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1910|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: This gene encodes a secreted protein belonging to the neurotrophin family of structurally related molecules that play a crucial role in the control of neuronal numbers and of dendritic growth. The encoded preproprotein undergoes post-translational processing to generate non-covalently associated homodimeric functional protein. Mice deficient in the encoded protein exhibit a loss of sensory neurons in the nodose-petrosal and geniculate ganglia, have deficits in long-term memory and hippocampal long-lasting long-term potentiation. [provided by RefSeq, Oct 2015]
PHENOTYPE: Nullizygous mice exhibit sensory neuron deficits. One nullizygous mutation causes loss of BDNF-dependent neural crest-derived sensory neurons and impaired coordination, while another leads to reduced neuron apoptosis, thick skin, and altered hair cycle control. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ntf5||
(F):5'- CTTCAGGTGTGCAAGCCATG -3'
(R):5'- TGCATTCTGAGAGCCAGTG -3'
(F):5'- CCTGAGTGGGACCTCTTGTC -3'
(R):5'- ATTCTGAGAGCCAGTGCCTCC -3'