Incidental Mutation 'R4950:Ntrk1'
ID 381904
Institutional Source Beutler Lab
Gene Symbol Ntrk1
Ensembl Gene ENSMUSG00000028072
Gene Name neurotrophic tyrosine kinase, receptor, type 1
Synonyms Tkr, TrkA
MMRRC Submission 042547-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4950 (G1)
Quality Score 223
Status Validated
Chromosome 3
Chromosomal Location 87778244-87795162 bp(-) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 87789611 bp (GRCm38)
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 100% (58/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A T 2: 154,311,659 (GRCm38) D215V probably damaging Het
Cacna1i A G 15: 80,368,671 (GRCm38) E625G probably damaging Het
Cage1 C T 13: 38,023,326 (GRCm38) S181N possibly damaging Het
Ccdc36 A C 9: 108,421,510 (GRCm38) S36R probably damaging Het
Ccdc73 A C 2: 104,992,366 (GRCm38) I887L probably benign Het
Cfap65 T A 1: 74,906,336 (GRCm38) K1408* probably null Het
Cngb1 C A 8: 95,248,507 (GRCm38) G654W probably damaging Het
Cxcl15 A T 5: 90,795,245 (GRCm38) E35D possibly damaging Het
Ddi1 A G 9: 6,266,073 (GRCm38) S99P probably benign Het
Disp3 A T 4: 148,258,126 (GRCm38) D622E possibly damaging Het
Dnajc22 G A 15: 99,101,734 (GRCm38) V267I probably benign Het
Dph5 G A 3: 115,928,643 (GRCm38) G257S probably benign Het
Elmo2 A T 2: 165,314,813 (GRCm38) probably null Het
Fam186a T C 15: 99,941,653 (GRCm38) R2237G unknown Het
Fez1 G A 9: 36,867,882 (GRCm38) R285Q probably damaging Het
Fsip2 A T 2: 82,946,932 (GRCm38) H101L probably damaging Het
Fsip2 G A 2: 82,977,414 (GRCm38) C1359Y probably benign Het
Fxyd7 G A 7: 31,047,390 (GRCm38) T15I probably benign Het
Gpr155 A T 2: 73,382,185 (GRCm38) D31E probably benign Het
Irx6 A T 8: 92,678,800 (GRCm38) Y432F probably damaging Het
Itih5 A C 2: 10,235,081 (GRCm38) I340L probably damaging Het
Lao1 T C 4: 118,965,375 (GRCm38) L164S probably damaging Het
Mcoln3 T C 3: 146,139,519 (GRCm38) I490T probably damaging Het
Mef2b T C 8: 70,167,196 (GRCm38) Y311H probably damaging Het
Mras A T 9: 99,394,484 (GRCm38) L111Q probably damaging Het
Mrc1 A G 2: 14,271,280 (GRCm38) D475G probably damaging Het
Nrcam T C 12: 44,598,490 (GRCm38) I1155T probably damaging Het
Olfr58 G A 9: 19,783,731 (GRCm38) M199I probably benign Het
Olfr885 T C 9: 38,062,001 (GRCm38) I227T probably damaging Het
Parp9 A T 16: 35,948,007 (GRCm38) I186F probably damaging Het
Pcdhac2 T A 18: 37,145,230 (GRCm38) V421E probably benign Het
Pck1 T A 2: 173,154,827 (GRCm38) I178K probably benign Het
Pde6b A G 5: 108,430,703 (GRCm38) K836E probably benign Het
Ptprd T A 4: 76,140,515 (GRCm38) probably null Het
Pwp2 A G 10: 78,183,006 (GRCm38) Y56H probably benign Het
Rarb G A 14: 16,432,085 (GRCm38) probably benign Het
Rpain C G 11: 70,970,921 (GRCm38) H50Q probably benign Het
Rps9 CTGTTTG CTG 7: 3,704,759 (GRCm38) probably null Het
Rubcn A T 16: 32,843,193 (GRCm38) S358T probably damaging Het
Ryr2 G A 13: 11,742,011 (GRCm38) R1586C probably damaging Het
Slfn9 T C 11: 82,981,904 (GRCm38) I669V probably benign Het
Slx1b T C 7: 126,691,767 (GRCm38) probably benign Het
Spsb3 T A 17: 24,887,511 (GRCm38) probably benign Het
Tbx15 A G 3: 99,326,384 (GRCm38) I288V possibly damaging Het
Tlr2 C A 3: 83,837,332 (GRCm38) E481D probably damaging Het
Trim17 A T 11: 58,970,428 (GRCm38) D253V probably damaging Het
Trim69 A G 2: 122,178,746 (GRCm38) D429G probably damaging Het
Vstm5 A G 9: 15,257,794 (GRCm38) probably null Het
Vwa3b A G 1: 37,085,332 (GRCm38) Q337R probably benign Het
Zfp113 T C 5: 138,145,472 (GRCm38) N172S probably benign Het
Zfp607a T A 7: 27,878,751 (GRCm38) H415Q probably damaging Het
Zfp87 G A 13: 67,517,899 (GRCm38) T148I probably benign Het
Other mutations in Ntrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ntrk1 APN 3 87,791,438 (GRCm38) missense possibly damaging 0.94
IGL00756:Ntrk1 APN 3 87,783,697 (GRCm38) missense probably benign 0.05
IGL01340:Ntrk1 APN 3 87,788,714 (GRCm38) missense possibly damaging 0.72
IGL02262:Ntrk1 APN 3 87,781,797 (GRCm38) missense probably damaging 1.00
IGL02268:Ntrk1 APN 3 87,781,531 (GRCm38) missense probably damaging 1.00
IGL02290:Ntrk1 APN 3 87,781,771 (GRCm38) missense probably benign 0.11
IGL02435:Ntrk1 APN 3 87,788,732 (GRCm38) missense probably benign 0.01
IGL03007:Ntrk1 APN 3 87,782,743 (GRCm38) missense possibly damaging 0.56
PIT4802001:Ntrk1 UTSW 3 87,788,634 (GRCm38) missense probably damaging 0.98
R0015:Ntrk1 UTSW 3 87,791,750 (GRCm38) intron probably benign
R0140:Ntrk1 UTSW 3 87,778,568 (GRCm38) missense probably damaging 1.00
R0269:Ntrk1 UTSW 3 87,783,933 (GRCm38) missense possibly damaging 0.78
R0457:Ntrk1 UTSW 3 87,791,707 (GRCm38) missense probably benign
R0617:Ntrk1 UTSW 3 87,783,933 (GRCm38) missense possibly damaging 0.78
R1144:Ntrk1 UTSW 3 87,781,542 (GRCm38) missense probably damaging 1.00
R1152:Ntrk1 UTSW 3 87,778,593 (GRCm38) missense probably benign 0.33
R1439:Ntrk1 UTSW 3 87,789,611 (GRCm38) splice site probably null
R1588:Ntrk1 UTSW 3 87,780,077 (GRCm38) nonsense probably null
R1764:Ntrk1 UTSW 3 87,780,084 (GRCm38) missense probably damaging 0.99
R1766:Ntrk1 UTSW 3 87,778,518 (GRCm38) missense probably damaging 1.00
R1771:Ntrk1 UTSW 3 87,789,630 (GRCm38) missense probably benign
R2264:Ntrk1 UTSW 3 87,779,634 (GRCm38) critical splice donor site probably null
R2377:Ntrk1 UTSW 3 87,791,407 (GRCm38) missense possibly damaging 0.70
R4059:Ntrk1 UTSW 3 87,781,479 (GRCm38) missense probably damaging 1.00
R5107:Ntrk1 UTSW 3 87,794,973 (GRCm38) missense probably benign 0.01
R5805:Ntrk1 UTSW 3 87,780,172 (GRCm38) missense probably damaging 1.00
R6073:Ntrk1 UTSW 3 87,791,370 (GRCm38) splice site probably null
R6372:Ntrk1 UTSW 3 87,786,048 (GRCm38) missense probably benign
R6894:Ntrk1 UTSW 3 87,782,802 (GRCm38) missense probably damaging 1.00
R6972:Ntrk1 UTSW 3 87,783,981 (GRCm38) missense probably damaging 1.00
R6973:Ntrk1 UTSW 3 87,783,981 (GRCm38) missense probably damaging 1.00
R7309:Ntrk1 UTSW 3 87,795,077 (GRCm38) missense probably benign 0.00
R7693:Ntrk1 UTSW 3 87,788,426 (GRCm38) missense probably benign
R7836:Ntrk1 UTSW 3 87,779,734 (GRCm38) nonsense probably null
R8311:Ntrk1 UTSW 3 87,781,563 (GRCm38) missense probably damaging 1.00
R8458:Ntrk1 UTSW 3 87,791,669 (GRCm38) critical splice donor site probably null
R8726:Ntrk1 UTSW 3 87,786,089 (GRCm38) missense probably benign 0.10
R8791:Ntrk1 UTSW 3 87,779,683 (GRCm38) missense probably damaging 1.00
R8796:Ntrk1 UTSW 3 87,783,115 (GRCm38) missense probably benign 0.00
R8936:Ntrk1 UTSW 3 87,786,059 (GRCm38) missense possibly damaging 0.64
R9234:Ntrk1 UTSW 3 87,788,315 (GRCm38) critical splice donor site probably null
R9324:Ntrk1 UTSW 3 87,791,438 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TAGTCCTGCAGGCTCTACTTG -3'
(R):5'- CGTAGCACGATGTTCAAGTTGAC -3'

Sequencing Primer
(F):5'- GCTGACAGGCATGCACATAATTG -3'
(R):5'- CAAGTTGACTTGCCTGGGGAC -3'
Posted On 2016-04-27