Incidental Mutation 'IGL03235:Ntrk3'
ID 414037
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 # IGL03235
Quality Score
Status
Chromosome 7
Chromosomal Location 77825711-78228865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 77842340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 829 (K829N)
Ref Sequence ENSEMBL: ENSMUSP00000141534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000193002] [ENSMUST00000195262]
AlphaFold Q6VNS1
Predicted Effect probably damaging
Transcript: ENSMUST00000039431
AA Change: K815N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: K815N

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 damaging
Transcript: ENSMUST00000193002
AA Change: K829N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: K829N

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 damaging
Transcript: ENSMUST00000195262
AA Change: K854N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: K854N

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 unknown
Transcript: ENSMUST00000205354
AA Change: K50N
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,232,210 (GRCm39) N461S probably benign Het
Baz1a A T 12: 54,945,320 (GRCm39) V1345E probably damaging Het
Ccdc60 T A 5: 116,269,205 (GRCm39) M472L probably benign Het
Cenpf C T 1: 189,416,124 (GRCm39) R67K probably damaging Het
Cfap45 A T 1: 172,366,060 (GRCm39) R304S possibly damaging Het
D5Ertd579e T A 5: 36,776,172 (GRCm39) probably benign Het
Eefsec T C 6: 88,353,357 (GRCm39) D104G probably damaging Het
Eif2ak4 A G 2: 118,273,621 (GRCm39) S849G probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glt28d2 A T 3: 85,779,109 (GRCm39) H121Q possibly damaging Het
Hacl1 C T 14: 31,352,995 (GRCm39) W106* probably null Het
Marchf6 A G 15: 31,486,141 (GRCm39) S376P probably damaging Het
Mkrn1 T C 6: 39,378,264 (GRCm39) Y289C probably damaging Het
Msl2 A G 9: 100,977,967 (GRCm39) T114A probably benign Het
Or4b1d A T 2: 89,969,414 (GRCm39) V23E possibly damaging Het
Pcdhgc5 A T 18: 37,953,151 (GRCm39) I142F probably damaging Het
Pip5kl1 A G 2: 32,468,166 (GRCm39) R153G probably damaging Het
Rgs19 T C 2: 181,331,525 (GRCm39) K93R probably benign Het
Slc36a4 T A 9: 15,634,845 (GRCm39) V129E probably damaging Het
Spata13 T C 14: 60,989,241 (GRCm39) L299P probably damaging Het
Tle2 T C 10: 81,422,085 (GRCm39) S353P probably benign Het
Trav13d-4 T C 14: 53,995,298 (GRCm39) V84A probably benign Het
Vmn1r8 A T 6: 57,013,746 (GRCm39) K266* probably null Het
Wwtr1 C A 3: 57,384,954 (GRCm39) V255F probably benign 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
IGL00976:Ntrk3 APN 7 78,100,701 (GRCm39) missense probably benign 0.02
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
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 2016-08-02