Incidental Mutation 'R1827:Ntrk3'
ID 206908
Institutional Source Beutler Lab
Gene Symbol Ntrk3
Ensembl Gene ENSMUSG00000059146
Gene Name neurotrophic tyrosine kinase, receptor, type 3
Synonyms TrkC
MMRRC Submission 039854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1827 (G1)
Quality Score 222
Status Not validated
Chromosome 7
Chromosomal Location 77825711-78228865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77897049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 663 (I663L)
Ref Sequence ENSEMBL: ENSMUSP00000141599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000193002] [ENSMUST00000195262]
AlphaFold Q6VNS1
Predicted Effect probably damaging
Transcript: ENSMUST00000039431
AA Change: I663L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: I663L

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: I663L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: I663L

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: I663L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: I663L

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 probably benign
Transcript: ENSMUST00000205868
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb G C 7: 131,043,004 (GRCm39) R355T probably damaging Het
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Cdh5 T C 8: 104,839,541 (GRCm39) L4P possibly damaging Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kank2 A G 9: 21,706,761 (GRCm39) S86P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppm1e T C 11: 87,122,521 (GRCm39) T479A probably damaging Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Rufy4 T C 1: 74,173,279 (GRCm39) L415P probably damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGACATGTAAGCAAGGCAC -3'
(R):5'- TGAAGGATGTTCCAGAGCCC -3'

Sequencing Primer
(F):5'- AGCAACTTAGTCCTGCAGCTG -3'
(R):5'- ATGATCCTCGTGGATGG -3'
Posted On 2014-06-23