|Institutional Source||Beutler Lab|
|Gene Name||nerve growth factor receptor (TNFR superfamily, member 16)|
|Synonyms||p75NGFR, p75NTR, p75, p75 neurotrophin receptor, LNGFR, Tnfrsf16|
|Is this an essential gene?||Possibly essential (E-score: 0.729)|
|Stock #||RF014 (G1)|
|Chromosomal Location||95568818-95587735 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95578201 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 117 (Y117C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000122]|
|Predicted Effect||probably damaging
AA Change: Y117C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y117C
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit increased perinatal lethality, skin abnormalities, growth retardation, reduced sensory nerve innervation, elevated pain threshold, ataxia, reduced sciatic nerve diameter, and blood vessel abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ngfr||
(F):5'- TCACGAATCTAGCTCTTCACG -3'
(R):5'- AGTTCTGCCGCTGATGCTTC -3'
(F):5'- TGCACTCGCGTAACTGG -3'
(R):5'- GCTGATGCTTCCCCGTGTG -3'