Incidental Mutation 'R7357:Ntf3'
ID 571025
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
MMRRC Submission 045443-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7357 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126078375-126143703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126078961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 182 (I182F)
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect possibly damaging
Transcript: ENSMUST00000050484
AA Change: I169F

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: I169F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112244
AA Change: I182F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: I182F

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204542
AA Change: I182F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: I182F

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A T 2: 155,845,787 (GRCm39) H23Q unknown Het
9530068E07Rik A T 11: 52,297,821 (GRCm39) K233I probably damaging Het
Aldh1l2 T C 10: 83,350,408 (GRCm39) M320V possibly damaging Het
C2cd3 A G 7: 100,079,310 (GRCm39) N838S Het
Cacna1s T C 1: 135,998,759 (GRCm39) F218S probably damaging Het
Carmil3 G T 14: 55,728,590 (GRCm39) probably benign Het
Cd300a A T 11: 114,784,153 (GRCm39) T54S probably benign Het
Celf3 G A 3: 94,387,637 (GRCm39) E70K probably damaging Het
Celsr1 A C 15: 85,914,715 (GRCm39) M1086R probably benign Het
Ces2f G A 8: 105,676,595 (GRCm39) M96I probably benign Het
Chrdl2 G A 7: 99,678,414 (GRCm39) V329I probably benign Het
Ctc1 T A 11: 68,925,568 (GRCm39) L1035Q probably benign Het
Dbi A G 1: 120,047,623 (GRCm39) probably null Het
Dock3 A G 9: 106,882,568 (GRCm39) I405T probably benign Het
Dpp4 A T 2: 62,217,421 (GRCm39) W59R probably benign Het
Dsg3 T A 18: 20,672,840 (GRCm39) I837N probably damaging Het
Fbxw15 A G 9: 109,387,308 (GRCm39) V229A probably benign Het
Fermt3 T C 19: 6,980,211 (GRCm39) T395A probably benign Het
Focad A T 4: 88,147,572 (GRCm39) I404F probably benign Het
Gm8104 T C 14: 42,959,068 (GRCm39) I86T probably damaging Het
Gm9857 A C 3: 108,847,478 (GRCm39) L95R unknown Het
Hoxa1 A T 6: 52,133,929 (GRCm39) S266T probably benign Het
Kif19b A G 5: 140,480,806 (GRCm39) R979G possibly damaging Het
Leng8 T A 7: 4,147,932 (GRCm39) Y625* probably null Het
Mast3 A G 8: 71,237,503 (GRCm39) V557A probably damaging Het
Morc1 T C 16: 48,442,953 (GRCm39) F813L probably benign Het
Nup153 G T 13: 46,870,642 (GRCm39) A91E probably benign Het
Or13l2 G C 3: 97,317,971 (GRCm39) N175K probably damaging Het
Or52h1 A T 7: 103,828,978 (GRCm39) D212E probably damaging Het
Pamr1 G A 2: 102,417,049 (GRCm39) W120* probably null Het
Pcsk1 A G 13: 75,274,079 (GRCm39) N436S probably damaging Het
Pde4dip T C 3: 97,622,857 (GRCm39) K1451E probably benign Het
Pebp4 G A 14: 70,285,864 (GRCm39) V176I possibly damaging Het
Phgdh G A 3: 98,247,138 (GRCm39) A4V probably benign Het
Pik3c2g T C 6: 139,610,791 (GRCm39) probably null Het
Ppic T C 18: 53,544,139 (GRCm39) Y82C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ppp1r9b T C 11: 94,895,424 (GRCm39) V704A probably benign Het
Pramel6 G T 2: 87,340,856 (GRCm39) R396L not run Het
Prss48 A T 3: 85,904,528 (GRCm39) D223E probably damaging Het
Psd3 T C 8: 68,574,149 (GRCm39) K11E probably benign Het
Rabgap1l T C 1: 160,169,608 (GRCm39) K780E probably damaging Het
Retreg1 A T 15: 25,972,029 (GRCm39) D323V probably damaging Het
Samd11 A T 4: 156,340,067 (GRCm39) probably null Het
Sec14l3 T A 11: 4,020,127 (GRCm39) F188Y probably benign Het
Serpina5 A T 12: 104,069,639 (GRCm39) T284S possibly damaging Het
Setx A G 2: 29,020,313 (GRCm39) D100G probably benign Het
Sis A T 3: 72,832,404 (GRCm39) V1035D probably damaging Het
Slco4a1 A G 2: 180,113,930 (GRCm39) I456V probably benign Het
Snx14 A T 9: 88,286,369 (GRCm39) C393S possibly damaging Het
Stil T C 4: 114,871,423 (GRCm39) probably null Het
Sult6b1 A G 17: 79,202,059 (GRCm39) S148P probably damaging Het
Sycp2 G T 2: 178,045,597 (GRCm39) probably null Het
Tesmin T C 19: 3,447,042 (GRCm39) I273T probably benign Het
Tmem39a T A 16: 38,406,592 (GRCm39) Y310N probably damaging Het
Trp53bp1 A T 2: 121,041,781 (GRCm39) D1258E probably damaging Het
Ttc12 A C 9: 49,349,687 (GRCm39) D703E probably benign Het
Unc13c TATAA TATAATAA 9: 73,840,810 (GRCm39) probably benign Het
Unc13c ATA ATAGTA 9: 73,840,811 (GRCm39) probably benign Het
Usp18 T C 6: 121,230,808 (GRCm39) I79T possibly damaging Het
Usp9y A T Y: 1,333,656 (GRCm39) D1596E possibly damaging Het
Vmn2r109 A T 17: 20,761,536 (GRCm39) V607E probably damaging Het
Vwa8 G A 14: 79,275,641 (GRCm39) R808K probably null Het
Zfp248 A G 6: 118,406,618 (GRCm39) Y324H probably damaging Het
Zfp513 G A 5: 31,357,132 (GRCm39) P387S possibly damaging Het
Other mutations in Ntf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Ntf3 APN 6 126,078,823 (GRCm39) missense probably damaging 0.99
IGL02982:Ntf3 APN 6 126,079,340 (GRCm39) missense probably damaging 0.99
PIT4403001:Ntf3 UTSW 6 126,078,789 (GRCm39) missense probably damaging 1.00
R0026:Ntf3 UTSW 6 126,078,768 (GRCm39) missense probably damaging 1.00
R1219:Ntf3 UTSW 6 126,079,174 (GRCm39) missense possibly damaging 0.93
R1666:Ntf3 UTSW 6 126,079,401 (GRCm39) missense possibly damaging 0.70
R1822:Ntf3 UTSW 6 126,079,209 (GRCm39) missense probably benign 0.10
R1920:Ntf3 UTSW 6 126,079,485 (GRCm39) missense possibly damaging 0.46
R2255:Ntf3 UTSW 6 126,078,689 (GRCm39) makesense probably null
R3888:Ntf3 UTSW 6 126,079,405 (GRCm39) missense probably benign 0.18
R4196:Ntf3 UTSW 6 126,079,138 (GRCm39) missense probably benign 0.41
R6707:Ntf3 UTSW 6 126,141,691 (GRCm39) critical splice donor site probably null
R6983:Ntf3 UTSW 6 126,078,808 (GRCm39) missense probably damaging 0.98
R7663:Ntf3 UTSW 6 126,078,778 (GRCm39) missense probably damaging 1.00
R7895:Ntf3 UTSW 6 126,079,203 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTGCTCGGACATAGGTTTG -3'
(R):5'- GGCAACAGAGACGCTACAATTC -3'

Sequencing Primer
(F):5'- CTCGGACATAGGTTTGCGAAG -3'
(R):5'- TGAGTGACAGCACCCCTTTG -3'
Posted On 2019-09-13