Incidental Mutation 'R8513:Ntf5'
ID 655979
Institutional Source Beutler Lab
Gene Symbol Ntf5
Ensembl Gene ENSMUSG00000074121
Gene Name neurotrophin 5
Synonyms 2900040K06Rik, neurotrophin-4, NT4/5, Ntf-5, NT-4, NT4, Ntf4
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45063119-45066603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45065179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 104 (T104A)
Ref Sequence ENSEMBL: ENSMUSP00000057916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000210347]
AlphaFold Q80VU4
Predicted Effect probably damaging
Transcript: ENSMUST00000058879
AA Change: T104A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121
AA Change: T104A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 50 74 N/A INTRINSIC
NGF 88 201 8.06e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210347
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype 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
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Hepacam A G 9: 37,291,930 (GRCm39) E86G probably benign Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kiz A G 2: 146,712,684 (GRCm39) probably null Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Rab7 T C 6: 87,981,250 (GRCm39) Y144C probably benign Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem184b A T 15: 79,254,123 (GRCm39) S142T probably benign Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign Het
Other mutations in Ntf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01878:Ntf5 APN 7 45,065,450 (GRCm39) missense probably damaging 1.00
R1905:Ntf5 UTSW 7 45,065,176 (GRCm39) missense probably damaging 0.96
R5539:Ntf5 UTSW 7 45,065,354 (GRCm39) missense probably benign 0.44
R7067:Ntf5 UTSW 7 45,065,048 (GRCm39) missense probably damaging 0.99
R7762:Ntf5 UTSW 7 45,065,243 (GRCm39) missense probably damaging 1.00
R8803:Ntf5 UTSW 7 45,065,485 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTTCAGGTGTGCAAGCCATG -3'
(R):5'- TGCATTCTGAGAGCCAGTGC -3'

Sequencing Primer
(F):5'- CCTGAGTGGGACCTCTTGTC -3'
(R):5'- AGAGCCAGTGCCTCCGATC -3'
Posted On 2020-10-20