Incidental Mutation 'R5045:Ntrk3'
ID 394323
Institutional Source Beutler Lab
Gene Symbol Ntrk3
Ensembl Gene ENSMUSG00000059146
Gene Name neurotrophic tyrosine kinase, receptor, type 3
Synonyms TrkC
MMRRC Submission 042635-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5045 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 77825711-78228865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78110172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 354 (Q354L)
Ref Sequence ENSEMBL: ENSMUSP00000038324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000039438] [ENSMUST00000193002] [ENSMUST00000195262]
AlphaFold Q6VNS1
Predicted Effect probably benign
Transcript: ENSMUST00000039431
AA Change: Q354L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: Q354L

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: Q354L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038324
Gene: ENSMUSG00000059146
AA Change: Q354L

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: Q354L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: Q354L

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: Q354L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: Q354L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
4930519P11Rik A T 2: 154,454,950 (GRCm39) C136* probably null Het
4930519P11Rik G T 2: 154,454,982 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cd2ap T C 17: 43,118,851 (GRCm39) N529S probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Enpp3 A G 10: 24,652,665 (GRCm39) I764T probably damaging Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Potefam1 T A 2: 111,023,804 (GRCm39) Q110L unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Ugt2a2 A T 5: 87,622,751 (GRCm39) F72L probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGCCGTTGATTCTTTCAAAC -3'
(R):5'- TGTGTCCTCGAGATCAGCTTG -3'

Sequencing Primer
(F):5'- GTCCCCCAGCTTCCAGAAGAG -3'
(R):5'- CGAGATCAGCTTGCTTTTCC -3'
Posted On 2016-06-15