Incidental Mutation 'IGL00976:Ntrk3'
ID 27931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntrk3
Ensembl Gene ENSMUSG00000059146
Gene Name neurotrophic tyrosine kinase, receptor, type 3
Synonyms TrkC
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00976
Quality Score
Status
Chromosome 7
Chromosomal Location 77825711-78228865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78100701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 444 (V444I)
Ref Sequence ENSEMBL: ENSMUSP00000141599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000039438] [ENSMUST00000193002] [ENSMUST00000195262]
AlphaFold Q6VNS1
Predicted Effect probably benign
Transcript: ENSMUST00000039431
AA Change: V444I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: V444I

DomainStartEndE-ValueType
LRRNT 31 63 2.46e-4 SMART
LRRCT 160 208 3.58e-12 SMART
IG 216 302 1.24e-8 SMART
Pfam:I-set 308 392 2.4e-8 PFAM
transmembrane domain 430 452 N/A INTRINSIC
TyrKc 538 810 1.49e-145 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000039438
AA Change: V444I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000038324
Gene: ENSMUSG00000059146
AA Change: V444I

DomainStartEndE-ValueType
LRRNT 31 63 2.46e-4 SMART
LRRCT 160 208 3.58e-12 SMART
IG 216 302 1.24e-8 SMART
Pfam:I-set 308 392 3.1e-8 PFAM
transmembrane domain 429 451 N/A INTRINSIC
PDB:2MFQ|B 497 517 2e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155795
Predicted Effect probably benign
Transcript: ENSMUST00000193002
AA Change: V444I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: V444I

DomainStartEndE-ValueType
LRRNT 31 63 2.46e-4 SMART
LRRCT 160 208 3.58e-12 SMART
IG 216 302 1.24e-8 SMART
Pfam:I-set 308 392 2.4e-8 PFAM
Pfam:Ig_2 312 392 6.9e-4 PFAM
transmembrane domain 430 452 N/A INTRINSIC
TyrKc 538 824 4.29e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195262
AA Change: V444I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: V444I

DomainStartEndE-ValueType
LRRNT 31 63 1.2e-6 SMART
LRRCT 160 208 1.8e-14 SMART
IG 216 302 5.1e-11 SMART
Pfam:I-set 308 392 4.7e-7 PFAM
Pfam:Ig_2 312 392 1.3e-2 PFAM
transmembrane domain 430 452 N/A INTRINSIC
TyrKc 538 849 9.7e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205312
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 102,226,868 (GRCm39) probably benign Het
Aldob C A 4: 49,541,220 (GRCm39) V151L probably damaging Het
Cacna1i G A 15: 80,239,846 (GRCm39) M298I probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 G A 19: 56,785,932 (GRCm39) T701M probably damaging Het
Ccdc190 A T 1: 169,761,309 (GRCm39) H137L probably benign Het
Clhc1 G A 11: 29,511,389 (GRCm39) D278N probably benign Het
Cntnap3 T C 13: 64,942,166 (GRCm39) Y188C probably damaging Het
Dnah1 A C 14: 31,000,095 (GRCm39) V2466G probably damaging Het
Dnah8 A G 17: 31,070,684 (GRCm39) T4457A probably damaging Het
Hectd4 A G 5: 121,487,169 (GRCm39) Q3388R probably benign Het
Hecw1 T A 13: 14,493,557 (GRCm39) D316V probably damaging Het
Il1rap T C 16: 26,517,589 (GRCm39) V263A probably benign Het
Il6 G A 5: 30,219,839 (GRCm39) G72S probably benign Het
Katnal2 T C 18: 77,105,189 (GRCm39) Y86C probably damaging Het
Kdm7a G T 6: 39,121,332 (GRCm39) S874R possibly damaging Het
Mybpc2 T C 7: 44,171,741 (GRCm39) probably null Het
Nphs1 T G 7: 30,160,110 (GRCm39) S130A possibly damaging Het
Numbl T C 7: 26,968,235 (GRCm39) V144A possibly damaging Het
Or8g33 T A 9: 39,337,953 (GRCm39) Y138F probably benign Het
P2rx1 T C 11: 72,903,826 (GRCm39) probably null Het
Pcdhb3 G A 18: 37,436,001 (GRCm39) V656I probably benign Het
Pole A G 5: 110,471,438 (GRCm39) Y1394C probably benign Het
Pramel24 T A 4: 143,453,585 (GRCm39) M231K probably damaging Het
Rbm47 A G 5: 66,184,081 (GRCm39) V174A possibly damaging Het
Rhox4f T C X: 36,786,048 (GRCm39) probably benign Het
Serpina12 T C 12: 103,998,787 (GRCm39) Y317C probably damaging Het
Slc12a5 T A 2: 164,821,224 (GRCm39) I236N probably damaging Het
Slc4a4 G A 5: 89,102,657 (GRCm39) G32R probably damaging Het
Slco1a4 T C 6: 141,752,908 (GRCm39) probably null Het
Sorcs3 A T 19: 48,755,542 (GRCm39) N894I probably damaging Het
Stk38l A G 6: 146,676,900 (GRCm39) E393G probably benign Het
Synpo A G 18: 60,736,491 (GRCm39) I485T possibly damaging Het
Tenm3 T A 8: 48,709,876 (GRCm39) M1687L probably benign Het
Ttc39c T C 18: 12,817,952 (GRCm39) probably benign Het
Unc13d T C 11: 115,961,293 (GRCm39) E378G probably damaging Het
Vmn2r118 T A 17: 55,900,204 (GRCm39) N567Y probably damaging Het
Other mutations in Ntrk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Ntrk3 APN 7 77,900,621 (GRCm39) missense probably benign 0.03
IGL00862:Ntrk3 APN 7 77,896,925 (GRCm39) missense probably damaging 1.00
IGL00972:Ntrk3 APN 7 77,897,070 (GRCm39) missense possibly damaging 0.95
IGL02172:Ntrk3 APN 7 78,110,020 (GRCm39) splice site probably benign
IGL02175:Ntrk3 APN 7 77,896,976 (GRCm39) missense probably damaging 1.00
IGL02213:Ntrk3 APN 7 78,112,679 (GRCm39) missense probably benign 0.17
IGL02363:Ntrk3 APN 7 78,103,085 (GRCm39) missense probably benign 0.24
IGL02527:Ntrk3 APN 7 78,101,697 (GRCm39) missense probably benign
IGL02673:Ntrk3 APN 7 77,900,512 (GRCm39) missense probably damaging 1.00
IGL02755:Ntrk3 APN 7 78,110,187 (GRCm39) missense probably benign
IGL02998:Ntrk3 APN 7 78,227,405 (GRCm39) missense probably damaging 0.98
IGL03235:Ntrk3 APN 7 77,842,340 (GRCm39) missense probably damaging 1.00
R1465:Ntrk3 UTSW 7 78,005,762 (GRCm39) splice site probably benign
R1505:Ntrk3 UTSW 7 78,110,272 (GRCm39) missense probably damaging 0.99
R1638:Ntrk3 UTSW 7 77,897,036 (GRCm39) missense probably damaging 1.00
R1641:Ntrk3 UTSW 7 78,005,822 (GRCm39) missense probably damaging 1.00
R1775:Ntrk3 UTSW 7 78,005,789 (GRCm39) missense possibly damaging 0.60
R1786:Ntrk3 UTSW 7 78,127,683 (GRCm39) splice site probably benign
R1827:Ntrk3 UTSW 7 77,897,049 (GRCm39) missense probably damaging 1.00
R1868:Ntrk3 UTSW 7 77,842,352 (GRCm39) missense possibly damaging 0.90
R1873:Ntrk3 UTSW 7 78,112,587 (GRCm39) missense probably benign
R1929:Ntrk3 UTSW 7 78,166,471 (GRCm39) splice site probably null
R1941:Ntrk3 UTSW 7 77,897,010 (GRCm39) missense probably damaging 1.00
R2132:Ntrk3 UTSW 7 78,127,683 (GRCm39) splice site probably benign
R2214:Ntrk3 UTSW 7 78,166,520 (GRCm39) missense probably damaging 1.00
R2221:Ntrk3 UTSW 7 77,848,600 (GRCm39) missense probably damaging 1.00
R2223:Ntrk3 UTSW 7 77,848,600 (GRCm39) missense probably damaging 1.00
R2271:Ntrk3 UTSW 7 78,166,471 (GRCm39) splice site probably null
R2441:Ntrk3 UTSW 7 77,952,410 (GRCm39) missense probably damaging 1.00
R3108:Ntrk3 UTSW 7 78,110,263 (GRCm39) missense probably benign 0.01
R3109:Ntrk3 UTSW 7 78,110,263 (GRCm39) missense probably benign 0.01
R3959:Ntrk3 UTSW 7 77,848,590 (GRCm39) missense probably damaging 1.00
R4016:Ntrk3 UTSW 7 78,112,695 (GRCm39) splice site probably benign
R4028:Ntrk3 UTSW 7 77,842,458 (GRCm39) missense probably damaging 1.00
R4067:Ntrk3 UTSW 7 78,167,185 (GRCm39) missense probably damaging 1.00
R4398:Ntrk3 UTSW 7 77,900,517 (GRCm39) nonsense probably null
R4664:Ntrk3 UTSW 7 78,110,847 (GRCm39) missense probably damaging 0.99
R5045:Ntrk3 UTSW 7 78,110,172 (GRCm39) missense probably benign 0.13
R5081:Ntrk3 UTSW 7 78,227,522 (GRCm39) missense probably damaging 0.99
R5151:Ntrk3 UTSW 7 77,897,048 (GRCm39) missense probably damaging 1.00
R5249:Ntrk3 UTSW 7 78,110,914 (GRCm39) missense possibly damaging 0.87
R5294:Ntrk3 UTSW 7 78,167,254 (GRCm39) splice site probably null
R5594:Ntrk3 UTSW 7 78,101,647 (GRCm39) missense probably benign 0.10
R5923:Ntrk3 UTSW 7 78,101,676 (GRCm39) missense possibly damaging 0.61
R6878:Ntrk3 UTSW 7 77,954,120 (GRCm39) missense probably benign 0.00
R7083:Ntrk3 UTSW 7 77,900,587 (GRCm39) missense probably damaging 1.00
R7178:Ntrk3 UTSW 7 78,005,895 (GRCm39) missense possibly damaging 0.86
R7487:Ntrk3 UTSW 7 77,900,461 (GRCm39) missense probably damaging 1.00
R7607:Ntrk3 UTSW 7 77,900,621 (GRCm39) missense probably benign 0.03
R7800:Ntrk3 UTSW 7 77,952,488 (GRCm39) missense probably benign 0.09
R7961:Ntrk3 UTSW 7 78,103,076 (GRCm39) missense probably benign
R7976:Ntrk3 UTSW 7 78,005,954 (GRCm39) missense probably damaging 0.97
R8009:Ntrk3 UTSW 7 78,103,076 (GRCm39) missense probably benign
R8032:Ntrk3 UTSW 7 78,005,807 (GRCm39) missense probably damaging 1.00
R8104:Ntrk3 UTSW 7 78,227,450 (GRCm39) missense probably damaging 0.99
R8230:Ntrk3 UTSW 7 77,900,518 (GRCm39) missense probably damaging 1.00
R8254:Ntrk3 UTSW 7 77,842,326 (GRCm39) missense probably damaging 1.00
R8412:Ntrk3 UTSW 7 78,005,897 (GRCm39) missense probably benign 0.02
R8465:Ntrk3 UTSW 7 78,112,631 (GRCm39) missense probably damaging 0.99
R8841:Ntrk3 UTSW 7 78,005,841 (GRCm39) missense probably damaging 0.99
R9187:Ntrk3 UTSW 7 77,896,966 (GRCm39) missense possibly damaging 0.93
R9444:Ntrk3 UTSW 7 78,110,805 (GRCm39) missense probably damaging 1.00
R9475:Ntrk3 UTSW 7 77,952,480 (GRCm39) missense probably benign 0.27
Posted On 2013-04-17