Incidental Mutation 'R6073:Ntrk1'
ID 512256
Institutional Source Beutler Lab
Gene Symbol Ntrk1
Ensembl Gene ENSMUSG00000028072
Gene Name neurotrophic tyrosine kinase, receptor, type 1
Synonyms Tkr, TrkA
MMRRC Submission 044234-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6073 (G1)
Quality Score 23.0285
Status Validated
Chromosome 3
Chromosomal Location 87685551-87702469 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 87698677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029712] [ENSMUST00000029714] [ENSMUST00000090981]
AlphaFold Q3UFB7
Predicted Effect probably null
Transcript: ENSMUST00000029712
SMART Domains Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:LRR_8 91 150 8.9e-14 PFAM
Pfam:TPKR_C2 151 194 4.9e-15 PFAM
IG 202 285 3.2e-2 SMART
low complexity region 419 442 N/A INTRINSIC
TyrKc 513 784 2.31e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029714
SMART Domains Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090981
SMART Domains Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (57/59)
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 kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 A T 18: 62,312,537 (GRCm39) M96K probably benign Het
Aox1 T C 1: 58,143,668 (GRCm39) probably null Het
Bnip5 A T 17: 29,123,597 (GRCm39) V367D probably damaging Het
C3 C T 17: 57,513,223 (GRCm39) G183R probably null Het
Cad A G 5: 31,219,906 (GRCm39) T753A possibly damaging Het
Cc2d2a C T 5: 43,887,317 (GRCm39) T1249M probably damaging Het
Cd74 G A 18: 60,944,558 (GRCm39) probably null Het
Cenpc1 A G 5: 86,206,012 (GRCm39) probably null Het
Cenpe T A 3: 134,965,834 (GRCm39) L2104* probably null Het
Cttnbp2 A G 6: 18,434,232 (GRCm39) I542T probably damaging Het
Cttnbp2 T C 6: 18,448,368 (GRCm39) D97G probably benign Het
Dnah10 A G 5: 124,896,274 (GRCm39) D3546G probably benign Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l2 T G 10: 25,377,730 (GRCm39) H597Q probably damaging Het
Erbin G A 13: 103,981,429 (GRCm39) Q499* probably null Het
Erc2 A T 14: 27,733,593 (GRCm39) I556F probably benign Het
Fscn2 G T 11: 120,252,613 (GRCm39) E27* probably null Het
Fsd1l A G 4: 53,679,994 (GRCm39) T231A probably damaging Het
G6pc1 T A 11: 101,258,802 (GRCm39) N60K probably benign Het
Gm43302 A G 5: 105,438,825 (GRCm39) V21A probably damaging Het
Heatr3 G T 8: 88,864,768 (GRCm39) A41S probably benign Het
Hrct1 T C 4: 43,727,543 (GRCm39) probably benign Het
Ihh T C 1: 74,990,438 (GRCm39) probably benign Het
Jph3 A T 8: 122,480,291 (GRCm39) Y323F probably damaging Het
Kcnj5 T C 9: 32,229,096 (GRCm39) D34G probably damaging Het
Magi2 G A 5: 20,774,286 (GRCm39) E231K probably damaging Het
Muc5b A C 7: 141,412,025 (GRCm39) Y1657S unknown Het
Muc5b G A 7: 141,402,797 (GRCm39) C667Y unknown Het
Myo10 G A 15: 25,736,728 (GRCm39) C459Y probably damaging Het
Nemp1 A G 10: 127,525,112 (GRCm39) K40E probably benign Het
Nipsnap1 T C 11: 4,838,895 (GRCm39) F107S possibly damaging Het
Pabpc1 A G 15: 36,600,895 (GRCm39) I305T probably damaging Het
Piezo2 A G 18: 63,145,716 (GRCm39) F2736S probably damaging Het
Pnldc1 T C 17: 13,109,250 (GRCm39) Y450C probably null Het
Polr2g A T 19: 8,774,673 (GRCm39) V70E probably damaging Het
Pramel23 T C 4: 143,424,838 (GRCm39) I202V probably damaging Het
Prpf8 T C 11: 75,384,848 (GRCm39) probably null Het
Rfxap T C 3: 54,714,708 (GRCm39) Y130C probably damaging Het
Rpl3l A G 17: 24,949,861 (GRCm39) E20G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Slc39a10 T C 1: 46,871,772 (GRCm39) D389G possibly damaging Het
Sorbs1 T C 19: 40,303,101 (GRCm39) H496R probably damaging Het
Spast G A 17: 74,680,300 (GRCm39) V420M probably damaging Het
Spata13 C T 14: 60,987,470 (GRCm39) T876I probably damaging Het
Spata31d1a T A 13: 59,850,808 (GRCm39) N440I probably damaging Het
Tdrd1 G T 19: 56,831,655 (GRCm39) E349* probably null Het
Tie1 A G 4: 118,339,587 (GRCm39) V398A probably benign Het
Tmem255b T A 8: 13,506,958 (GRCm39) L229Q probably damaging Het
Tmem59 T A 4: 107,050,598 (GRCm39) probably null Het
Trim3 G A 7: 105,266,746 (GRCm39) R479C probably damaging Het
Ucp2 G A 7: 100,147,338 (GRCm39) V131M possibly damaging Het
Vars1 A G 17: 35,220,505 (GRCm39) D29G probably benign Het
Vmn2r43 T C 7: 8,258,184 (GRCm39) K343R probably benign Het
Washc5 T C 15: 59,207,019 (GRCm39) K1085E possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp963 A T 8: 70,195,853 (GRCm39) C86* probably null Het
Zfp977 A G 7: 42,230,165 (GRCm39) I120T probably benign Het
Other mutations in Ntrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ntrk1 APN 3 87,698,745 (GRCm39) missense possibly damaging 0.94
IGL00756:Ntrk1 APN 3 87,691,004 (GRCm39) missense probably benign 0.05
IGL01340:Ntrk1 APN 3 87,696,021 (GRCm39) missense possibly damaging 0.72
IGL02262:Ntrk1 APN 3 87,689,104 (GRCm39) missense probably damaging 1.00
IGL02268:Ntrk1 APN 3 87,688,838 (GRCm39) missense probably damaging 1.00
IGL02290:Ntrk1 APN 3 87,689,078 (GRCm39) missense probably benign 0.11
IGL02435:Ntrk1 APN 3 87,696,039 (GRCm39) missense probably benign 0.01
IGL03007:Ntrk1 APN 3 87,690,050 (GRCm39) missense possibly damaging 0.56
PIT4802001:Ntrk1 UTSW 3 87,695,941 (GRCm39) missense probably damaging 0.98
R0015:Ntrk1 UTSW 3 87,699,057 (GRCm39) intron probably benign
R0140:Ntrk1 UTSW 3 87,685,875 (GRCm39) missense probably damaging 1.00
R0269:Ntrk1 UTSW 3 87,691,240 (GRCm39) missense possibly damaging 0.78
R0457:Ntrk1 UTSW 3 87,699,014 (GRCm39) missense probably benign
R0617:Ntrk1 UTSW 3 87,691,240 (GRCm39) missense possibly damaging 0.78
R1144:Ntrk1 UTSW 3 87,688,849 (GRCm39) missense probably damaging 1.00
R1152:Ntrk1 UTSW 3 87,685,900 (GRCm39) missense probably benign 0.33
R1439:Ntrk1 UTSW 3 87,696,918 (GRCm39) splice site probably null
R1588:Ntrk1 UTSW 3 87,687,384 (GRCm39) nonsense probably null
R1764:Ntrk1 UTSW 3 87,687,391 (GRCm39) missense probably damaging 0.99
R1766:Ntrk1 UTSW 3 87,685,825 (GRCm39) missense probably damaging 1.00
R1771:Ntrk1 UTSW 3 87,696,937 (GRCm39) missense probably benign
R2264:Ntrk1 UTSW 3 87,686,941 (GRCm39) critical splice donor site probably null
R2377:Ntrk1 UTSW 3 87,698,714 (GRCm39) missense possibly damaging 0.70
R4059:Ntrk1 UTSW 3 87,688,786 (GRCm39) missense probably damaging 1.00
R4950:Ntrk1 UTSW 3 87,696,918 (GRCm39) splice site probably null
R5107:Ntrk1 UTSW 3 87,702,280 (GRCm39) missense probably benign 0.01
R5805:Ntrk1 UTSW 3 87,687,479 (GRCm39) missense probably damaging 1.00
R6372:Ntrk1 UTSW 3 87,693,355 (GRCm39) missense probably benign
R6894:Ntrk1 UTSW 3 87,690,109 (GRCm39) missense probably damaging 1.00
R6972:Ntrk1 UTSW 3 87,691,288 (GRCm39) missense probably damaging 1.00
R6973:Ntrk1 UTSW 3 87,691,288 (GRCm39) missense probably damaging 1.00
R7309:Ntrk1 UTSW 3 87,702,384 (GRCm39) missense probably benign 0.00
R7693:Ntrk1 UTSW 3 87,695,733 (GRCm39) missense probably benign
R7836:Ntrk1 UTSW 3 87,687,041 (GRCm39) nonsense probably null
R8311:Ntrk1 UTSW 3 87,688,870 (GRCm39) missense probably damaging 1.00
R8458:Ntrk1 UTSW 3 87,698,976 (GRCm39) critical splice donor site probably null
R8726:Ntrk1 UTSW 3 87,693,396 (GRCm39) missense probably benign 0.10
R8791:Ntrk1 UTSW 3 87,686,990 (GRCm39) missense probably damaging 1.00
R8796:Ntrk1 UTSW 3 87,690,422 (GRCm39) missense probably benign 0.00
R8936:Ntrk1 UTSW 3 87,693,366 (GRCm39) missense possibly damaging 0.64
R9234:Ntrk1 UTSW 3 87,695,622 (GRCm39) critical splice donor site probably null
R9324:Ntrk1 UTSW 3 87,698,745 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTTGTGAGAAGTGTCCCTGAGG -3'
(R):5'- GTTTGAGGGGTCCAGGTAAC -3'

Posted On 2018-04-12