Incidental Mutation 'R7309:Ntrk1'
ID 567432
Institutional Source Beutler Lab
Gene Symbol Ntrk1
Ensembl Gene ENSMUSG00000028072
Gene Name neurotrophic tyrosine kinase, receptor, type 1
Synonyms Tkr, TrkA
MMRRC Submission 045408-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7309 (G1)
Quality Score 170.009
Status Not validated
Chromosome 3
Chromosomal Location 87685551-87702469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87702384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 23 (M23K)
Ref Sequence ENSEMBL: ENSMUSP00000029712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029711] [ENSMUST00000029712] [ENSMUST00000029714] [ENSMUST00000090981] [ENSMUST00000107582]
AlphaFold Q3UFB7
Predicted Effect probably benign
Transcript: ENSMUST00000029711
SMART Domains Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Recep_L_domain 47 159 1.8e-25 PFAM
FU 225 268 9.54e-11 SMART
Pfam:Recep_L_domain 346 460 3.8e-28 PFAM
FN3 483 586 9.19e-1 SMART
FN3 605 798 6.45e-5 SMART
FN3 816 899 6.35e-4 SMART
TyrKc 979 1246 4.61e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029712
AA Change: M23K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: M23K

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
Predicted Effect probably benign
Transcript: ENSMUST00000107582
SMART Domains Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Recep_L_domain 47 159 7.7e-25 PFAM
FU 225 268 9.54e-11 SMART
Pfam:Recep_L_domain 346 460 1.6e-28 PFAM
FN3 483 586 9.19e-1 SMART
FN3 605 798 6.45e-5 SMART
FN3 816 899 6.35e-4 SMART
TyrKc 979 1246 4.61e-128 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (47/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,884,819 (GRCm39) H346Q probably damaging Het
4932414N04Rik A T 2: 68,546,530 (GRCm39) I71L probably benign Het
Anapc1 A G 2: 128,516,604 (GRCm39) S377P probably damaging Het
Cldnd2 A G 7: 43,091,133 (GRCm39) T22A possibly damaging Het
Comp A T 8: 70,826,328 (GRCm39) probably null Het
Cop1 A G 1: 159,134,195 (GRCm39) K446E probably damaging Het
Cox18 T C 5: 90,362,917 (GRCm39) T314A possibly damaging Het
Csrp3 A G 7: 48,485,317 (GRCm39) V60A probably benign Het
Dnah8 A T 17: 31,093,988 (GRCm39) Y4694F probably damaging Het
Dnm1l A G 16: 16,139,510 (GRCm39) Y493H probably damaging Het
Esf1 A T 2: 139,967,011 (GRCm39) probably null Het
Fam187a T A 11: 102,776,832 (GRCm39) V212E probably damaging Het
Fign A T 2: 63,810,301 (GRCm39) M323K possibly damaging Het
Foxf2 A G 13: 31,810,496 (GRCm39) K145R probably damaging Het
Fxyd5 T C 7: 30,734,829 (GRCm39) N133D probably benign Het
Hnrnpdl A T 5: 100,185,482 (GRCm39) L240* probably null Het
Kcna7 T G 7: 45,058,679 (GRCm39) F322C probably damaging Het
Kcnj9 A G 1: 172,153,825 (GRCm39) C100R probably damaging Het
Lrrc14b C A 13: 74,511,321 (GRCm39) C253F probably benign Het
Map3k11 T C 19: 5,740,486 (GRCm39) V71A probably damaging Het
Med13 C A 11: 86,181,888 (GRCm39) M1315I probably benign Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Miox G T 15: 89,220,252 (GRCm39) C148F probably damaging Het
Mpdz A T 4: 81,300,195 (GRCm39) probably null Het
Mthfsd G A 8: 121,835,070 (GRCm39) probably benign Het
Myh15 G A 16: 48,916,828 (GRCm39) A383T probably benign Het
Nlrc5 A G 8: 95,200,670 (GRCm39) H117R probably benign Het
Or14c45 T A 7: 86,176,349 (GRCm39) L128H probably damaging Het
Or4c3d T A 2: 89,881,801 (GRCm39) N289I probably damaging Het
Or8g21 T A 9: 38,906,576 (GRCm39) S52C probably damaging Het
Pkd1l3 A G 8: 110,374,893 (GRCm39) probably null Het
Plcz1 A T 6: 139,968,882 (GRCm39) D185E probably damaging Het
Plekhg5 C A 4: 152,196,985 (GRCm39) Q757K possibly damaging Het
Prr23a2 T A 9: 98,739,027 (GRCm39) D128E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,416,712 (GRCm39) probably null Het
Sh3bp5 C T 14: 31,100,246 (GRCm39) V221M probably benign Het
Slc25a27 A T 17: 43,975,083 (GRCm39) D59E probably benign Het
Slc35e1 G C 8: 73,246,358 (GRCm39) R25G unknown Het
Slc4a4 T C 5: 89,318,610 (GRCm39) V626A probably benign Het
Slfn5 T C 11: 82,847,529 (GRCm39) L138P probably damaging Het
Stat1 A G 1: 52,165,780 (GRCm39) probably null Het
Tnks2 G T 19: 36,829,936 (GRCm39) A206S probably damaging Het
Trav7-1 C A 14: 52,892,521 (GRCm39) Q25K probably benign Het
Ttn A G 2: 76,728,670 (GRCm39) M5470T unknown Het
Vps35 A T 8: 86,001,596 (GRCm39) D407E probably benign Het
Wdr90 T C 17: 26,079,676 (GRCm39) D190G probably benign Het
Wdr93 T A 7: 79,423,103 (GRCm39) F456I possibly damaging Het
Wdr95 A G 5: 149,529,758 (GRCm39) E675G 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
R6073:Ntrk1 UTSW 3 87,698,677 (GRCm39) splice site probably null
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
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'- AGTCTCCTACAGCAGCCAAG -3'
(R):5'- GTGGCTAGTCTTTAACACCGC -3'

Sequencing Primer
(F):5'- GTGAATGAGTGCGCGCC -3'
(R):5'- TAGTCTTTAACACCGCCCCGC -3'
Posted On 2019-06-26