Incidental Mutation 'R6983:Ntf3'
ID 542782
Institutional Source Beutler Lab
Gene Symbol Ntf3
Ensembl Gene ENSMUSG00000049107
Gene Name neurotrophin 3
Synonyms NT3, Ntf-3, NT-3
MMRRC Submission 045090-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6983 (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 C at 126078808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 233 (T233A)
Ref Sequence ENSEMBL: ENSMUSP00000144828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]
AlphaFold P20181
Predicted Effect probably benign
Transcript: ENSMUST00000050484
AA Change: T220A

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: T220A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 145 250 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112244
AA Change: T233A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: T233A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204542
AA Change: T233A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: T233A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
NGF 158 263 1.19e-85 SMART
Meta Mutation Damage Score 0.2142 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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
Abca15 T C 7: 119,953,686 (GRCm39) V530A probably benign Het
Adgrg6 T C 10: 14,307,439 (GRCm39) N816D probably damaging Het
Aebp2 T C 6: 140,583,389 (GRCm39) F288L possibly damaging Het
Afdn T C 17: 14,101,583 (GRCm39) S1024P probably damaging Het
Akap6 A C 12: 52,934,436 (GRCm39) K643Q probably damaging Het
Atg2a A T 19: 6,310,070 (GRCm39) D1751V probably damaging Het
Best2 T A 8: 85,736,405 (GRCm39) I253F probably benign Het
Bmp1 G T 14: 70,745,647 (GRCm39) P55T probably damaging Het
C1s1 C A 6: 124,517,855 (GRCm39) V42F possibly damaging Het
Ccdc115 A G 1: 34,478,122 (GRCm39) probably null Het
Cdc42bpg C T 19: 6,371,698 (GRCm39) P1326S probably damaging Het
Cdhr3 G A 12: 33,092,379 (GRCm39) T744I probably benign Het
Cit T G 5: 116,132,150 (GRCm39) L1745R probably damaging Het
Commd6 A T 14: 101,874,488 (GRCm39) S39T probably damaging Het
Crot T G 5: 9,028,280 (GRCm39) Y223S probably benign Het
Crybg1 G T 10: 43,875,338 (GRCm39) A590D probably damaging Het
Cwf19l2 G A 9: 3,477,817 (GRCm39) E841K probably damaging Het
Dennd4c T C 4: 86,717,730 (GRCm39) Y576H probably damaging Het
Diaph1 A T 18: 38,022,822 (GRCm39) V749E probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
F5 A T 1: 164,021,698 (GRCm39) D1391V probably damaging Het
Foxf2 T A 13: 31,811,180 (GRCm39) M373K probably benign Het
Fstl1 A T 16: 37,651,980 (GRCm39) E287D probably benign Het
Gltpd2 T C 11: 70,411,110 (GRCm39) Y134H probably damaging Het
Hemgn T A 4: 46,395,997 (GRCm39) H413L possibly damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Hykk T C 9: 54,853,793 (GRCm39) S372P probably benign Het
Inava A G 1: 136,147,894 (GRCm39) S353P possibly damaging Het
Ints10 T C 8: 69,246,703 (GRCm39) V11A probably damaging Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Lamtor2 G A 3: 88,460,146 (GRCm39) Q9* probably null Het
Lonp2 T A 8: 87,350,876 (GRCm39) V22E probably damaging Het
Mad1l1 T C 5: 140,179,739 (GRCm39) E383G probably damaging Het
Man2b1 T A 8: 85,817,700 (GRCm39) probably null Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Myo18a T A 11: 77,736,341 (GRCm39) M1546K probably benign Het
Omg T C 11: 79,392,764 (GRCm39) S365G probably benign Het
Or52ad1 C T 7: 102,996,022 (GRCm39) V38I probably benign Het
Otol1 T A 3: 69,935,374 (GRCm39) N455K probably damaging Het
Pakap T A 4: 57,709,973 (GRCm39) V306D probably damaging Het
Pde4dip A T 3: 97,625,552 (GRCm39) Y1349N probably damaging Het
Pitpnm2 A G 5: 124,271,469 (GRCm39) L368P probably damaging Het
Pnpla8 T A 12: 44,330,030 (GRCm39) I194K possibly damaging Het
Podn T C 4: 107,881,470 (GRCm39) probably null Het
Potefam1 A G 2: 111,058,595 (GRCm39) probably null Het
Pramel6 A T 2: 87,339,923 (GRCm39) E229V possibly damaging Het
Ptpro C T 6: 137,426,915 (GRCm39) P262L probably damaging Het
Rnf122 A T 8: 31,608,488 (GRCm39) T19S probably benign Het
Shank2 T A 7: 143,635,585 (GRCm39) Y320N possibly damaging Het
Slc2a9 A C 5: 38,549,064 (GRCm39) I243S probably damaging Het
Slc5a6 A T 5: 31,197,749 (GRCm39) M130K probably benign Het
Stx5a A G 19: 8,732,533 (GRCm39) probably benign Het
Tbr1 G T 2: 61,642,079 (GRCm39) G185V probably damaging Het
Tg A G 15: 66,565,207 (GRCm39) D1183G probably benign Het
Thbs1 A T 2: 117,950,433 (GRCm39) I689F probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trub2 A T 2: 29,677,796 (GRCm39) probably benign Het
Ttn A G 2: 76,597,306 (GRCm39) V19869A probably damaging Het
Tufm T C 7: 126,088,607 (GRCm39) V303A possibly damaging Het
Vezf1 T C 11: 87,964,145 (GRCm39) I99T possibly damaging Het
Vmn2r1 T C 3: 63,989,118 (GRCm39) V19A probably benign Het
Xpc C T 6: 91,481,005 (GRCm39) R289K probably damaging Het
Zfp811 T A 17: 33,016,406 (GRCm39) K545* probably null Het
Zmiz2 G A 11: 6,352,413 (GRCm39) D623N probably 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
R7357:Ntf3 UTSW 6 126,078,961 (GRCm39) missense probably damaging 1.00
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'- GGCAAGCACACGAATTTTATTG -3'
(R):5'- TCAGCCATTGACATTCGGG -3'

Sequencing Primer
(F):5'- AAGCTTATATACTGTAAGGGTTGCTG -3'
(R):5'- ATTGACATTCGGGGACACC -3'
Posted On 2018-11-28