Incidental Mutation 'IGL01878:Ntf5'
ID178964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntf5
Ensembl Gene ENSMUSG00000074121
Gene Nameneurotrophin 5
SynonymsNT4, 2900040K06Rik, NT4/5, Ntf-5, Ntf4, neurotrophin-4, NT-4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01878
Quality Score
Status
Chromosome7
Chromosomal Location45413695-45417179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45416026 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 194 (I194T)
Ref Sequence ENSEMBL: ENSMUSP00000057916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000072453] [ENSMUST00000210347]
Predicted Effect probably damaging
Transcript: ENSMUST00000058879
AA Change: I194T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121
AA Change: I194T

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: ENSMUST00000072453
SMART Domains Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
GHB 25 131 2.2e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210347
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Ntf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1905:Ntf5 UTSW 7 45415752 missense probably damaging 0.96
R5539:Ntf5 UTSW 7 45415930 missense probably benign 0.44
R7067:Ntf5 UTSW 7 45415624 missense probably damaging 0.99
R7762:Ntf5 UTSW 7 45415819 missense probably damaging 1.00
Posted On2014-05-07