Incidental Mutation 'R8031:Ntrk2'
ID 617973
Institutional Source Beutler Lab
Gene Symbol Ntrk2
Ensembl Gene ENSMUSG00000055254
Gene Name neurotrophic tyrosine kinase, receptor, type 2
Synonyms trkB, Tkrb, C030027L06Rik
MMRRC Submission 067469-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R8031 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 58954383-59281784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59022193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 416 (I416T)
Ref Sequence ENSEMBL: ENSMUSP00000078757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079828] [ENSMUST00000109838] [ENSMUST00000224259] [ENSMUST00000224402] [ENSMUST00000225488] [ENSMUST00000225583] [ENSMUST00000225950]
AlphaFold P15209
Predicted Effect probably benign
Transcript: ENSMUST00000079828
AA Change: I416T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: I416T

DomainStartEndE-ValueType
LRRNT 31 65 1.74e-4 SMART
LRRCT 148 195 8.56e-10 SMART
IGc2 209 273 4.43e-5 SMART
Pfam:I-set 298 377 1.2e-8 PFAM
transmembrane domain 431 453 N/A INTRINSIC
TyrKc 537 806 2.48e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109838
AA Change: I416T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: I416T

DomainStartEndE-ValueType
LRRNT 31 65 1.74e-4 SMART
LRRCT 148 195 8.56e-10 SMART
IGc2 209 273 4.43e-5 SMART
Pfam:I-set 298 377 1.1e-8 PFAM
Pfam:Ig_2 300 377 5.4e-4 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000224259
AA Change: I416T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000224402
AA Change: I416T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000225488
AA Change: I416T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225583
AA Change: I416T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000225950
AA Change: I416T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Different lines of homozygous mice show varied abnormalities including innervation and neural defects, rod defects, impaired ovarian folliculogenesis, and reduced postnatal survival. 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,888,924 (GRCm39) probably null Het
Arhgdib A G 6: 136,901,274 (GRCm39) Y152H probably benign Het
Atxn10 T G 15: 85,277,594 (GRCm39) S354A probably benign Het
Cacng6 T C 7: 3,473,401 (GRCm39) V75A possibly damaging Het
Cdc23 A G 18: 34,784,741 (GRCm39) V7A unknown Het
Cdc40 T A 10: 40,728,512 (GRCm39) E157D probably benign Het
Defa25 T A 8: 21,575,253 (GRCm39) N77K probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab3 T C 11: 104,772,295 (GRCm39) V2659A possibly damaging Het
Efcab6 T C 15: 83,867,699 (GRCm39) K260E possibly damaging Het
Eif4a3 T C 11: 119,179,731 (GRCm39) Y352C probably damaging Het
Erc2 A T 14: 27,733,649 (GRCm39) K566N probably damaging Het
Fam3b A C 16: 97,283,052 (GRCm39) Y74* probably null Het
Flg2 T A 3: 93,127,521 (GRCm39) S2144R unknown Het
Fmo4 G T 1: 162,626,421 (GRCm39) S375* probably null Het
Fsip2 A G 2: 82,817,235 (GRCm39) T4323A probably benign Het
Gm16503 A T 4: 147,625,767 (GRCm39) H87L unknown Het
Hes7 C T 11: 69,013,591 (GRCm39) A150V probably damaging Het
Hk1 T A 10: 62,132,478 (GRCm39) N190I probably benign Het
Il17rc A G 6: 113,459,782 (GRCm39) D576G probably damaging Het
Inhba T A 13: 16,200,860 (GRCm39) S141T possibly damaging Het
Itga8 G T 2: 12,160,297 (GRCm39) D840E probably benign Het
Kazn T C 4: 141,881,862 (GRCm39) E126G Het
Kcnk13 A G 12: 99,932,438 (GRCm39) Y78C probably damaging Het
Kcnt1 C A 2: 25,798,054 (GRCm39) probably benign Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Myo9a A G 9: 59,687,374 (GRCm39) K160E probably benign Het
Nlrp1b T C 11: 71,107,747 (GRCm39) R585G probably benign Het
Or4c112 A T 2: 88,853,972 (GRCm39) I125N probably damaging Het
Or52h7 T A 7: 104,214,316 (GRCm39) I296N probably damaging Het
Or5k14 T C 16: 58,693,054 (GRCm39) N153S probably benign Het
Or8k33 G A 2: 86,384,447 (GRCm39) T7I probably damaging Het
P4ha3 A G 7: 99,941,905 (GRCm39) E106G probably damaging Het
Pcif1 A G 2: 164,728,442 (GRCm39) N233S probably damaging Het
Pgm2l1 C A 7: 99,921,625 (GRCm39) R619S probably damaging Het
Pkhd1l1 A G 15: 44,376,230 (GRCm39) Q964R probably damaging Het
Pla2g4a T A 1: 149,776,964 (GRCm39) I89F possibly damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Psmd4 T C 3: 94,943,203 (GRCm39) D67G probably damaging Het
Ptprt G A 2: 161,977,377 (GRCm39) T307I probably damaging Het
Rnf213 C A 11: 119,321,107 (GRCm39) C1188* probably null Het
Ror2 C T 13: 53,267,193 (GRCm39) C426Y probably damaging Het
Sacs C T 14: 61,441,640 (GRCm39) H1229Y probably damaging Het
Slc25a25 A T 2: 32,311,517 (GRCm39) L118Q probably damaging Het
Slc38a6 G A 12: 73,397,377 (GRCm39) A340T probably benign Het
Smarca5 A T 8: 81,431,311 (GRCm39) Y969N probably damaging Het
Sorbs1 C A 19: 40,314,933 (GRCm39) M626I probably benign Het
Spink5 T A 18: 44,143,303 (GRCm39) D753E probably benign Het
Taf1d T G 9: 15,221,695 (GRCm39) I226S probably damaging Het
Tmem225 A G 9: 40,060,689 (GRCm39) I83V possibly damaging Het
Top2b A G 14: 16,412,986 (GRCm38) D965G probably damaging Het
Traf3ip1 A G 1: 91,429,141 (GRCm39) K303E probably damaging Het
Ube2n C T 10: 95,377,244 (GRCm39) R70C probably benign Het
Ubl7 C T 9: 57,830,489 (GRCm39) P312S probably damaging Het
Vmn1r34 A T 6: 66,614,165 (GRCm39) M191K probably damaging Het
Vmn2r103 C T 17: 20,013,759 (GRCm39) H184Y probably benign Het
Vmn2r104 T C 17: 20,263,048 (GRCm39) I138V probably benign Het
Vmn2r49 T C 7: 9,720,408 (GRCm39) E361G possibly damaging Het
Vmn2r78 T C 7: 86,604,075 (GRCm39) L751P probably damaging Het
Zc3h13 T A 14: 75,568,070 (GRCm39) I1121N not run Het
Zfp235 T A 7: 23,841,114 (GRCm39) V511E probably benign Het
Other mutations in Ntrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Ntrk2 APN 13 58,994,665 (GRCm39) missense probably damaging 1.00
IGL02331:Ntrk2 APN 13 58,994,670 (GRCm39) critical splice donor site probably null
IGL02465:Ntrk2 APN 13 59,208,194 (GRCm39) missense probably damaging 1.00
Brainy UTSW 13 59,274,382 (GRCm39) missense probably damaging 1.00
PIT4366001:Ntrk2 UTSW 13 59,208,149 (GRCm39) missense probably damaging 1.00
R0102:Ntrk2 UTSW 13 58,956,607 (GRCm39) missense probably benign 0.00
R0547:Ntrk2 UTSW 13 59,022,184 (GRCm39) missense probably damaging 0.99
R0615:Ntrk2 UTSW 13 59,276,000 (GRCm39) nonsense probably null
R0620:Ntrk2 UTSW 13 58,994,635 (GRCm39) missense probably benign
R1770:Ntrk2 UTSW 13 59,009,132 (GRCm39) missense possibly damaging 0.67
R2063:Ntrk2 UTSW 13 59,007,111 (GRCm39) missense probably damaging 1.00
R2089:Ntrk2 UTSW 13 59,007,115 (GRCm39) missense possibly damaging 0.95
R2091:Ntrk2 UTSW 13 59,007,115 (GRCm39) missense possibly damaging 0.95
R2091:Ntrk2 UTSW 13 59,007,115 (GRCm39) missense possibly damaging 0.95
R2178:Ntrk2 UTSW 13 58,956,616 (GRCm39) missense probably benign 0.06
R2275:Ntrk2 UTSW 13 59,009,165 (GRCm39) missense probably damaging 1.00
R2370:Ntrk2 UTSW 13 59,202,248 (GRCm39) missense probably benign 0.28
R2413:Ntrk2 UTSW 13 59,022,226 (GRCm39) missense possibly damaging 0.56
R2520:Ntrk2 UTSW 13 59,202,090 (GRCm39) splice site probably null
R2926:Ntrk2 UTSW 13 59,208,098 (GRCm39) missense probably damaging 1.00
R4163:Ntrk2 UTSW 13 59,008,054 (GRCm39) missense probably damaging 1.00
R4320:Ntrk2 UTSW 13 59,007,960 (GRCm39) missense possibly damaging 0.48
R4348:Ntrk2 UTSW 13 59,026,073 (GRCm39) missense probably damaging 1.00
R4440:Ntrk2 UTSW 13 59,208,126 (GRCm39) missense probably damaging 1.00
R4534:Ntrk2 UTSW 13 59,274,343 (GRCm39) missense probably damaging 1.00
R4695:Ntrk2 UTSW 13 59,274,307 (GRCm39) missense probably damaging 0.99
R5356:Ntrk2 UTSW 13 59,208,056 (GRCm39) missense probably damaging 1.00
R5471:Ntrk2 UTSW 13 59,019,574 (GRCm39) missense probably benign 0.01
R5750:Ntrk2 UTSW 13 58,956,736 (GRCm39) missense probably benign 0.02
R5916:Ntrk2 UTSW 13 58,956,543 (GRCm39) start codon destroyed probably null 0.98
R5972:Ntrk2 UTSW 13 58,985,633 (GRCm39) missense probably damaging 1.00
R6015:Ntrk2 UTSW 13 59,208,209 (GRCm39) missense probably damaging 1.00
R6298:Ntrk2 UTSW 13 59,019,570 (GRCm39) nonsense probably null
R6419:Ntrk2 UTSW 13 59,009,113 (GRCm39) nonsense probably null
R6488:Ntrk2 UTSW 13 59,009,170 (GRCm39) missense possibly damaging 0.93
R6611:Ntrk2 UTSW 13 59,202,228 (GRCm39) missense probably damaging 1.00
R6827:Ntrk2 UTSW 13 59,274,382 (GRCm39) missense probably damaging 1.00
R6911:Ntrk2 UTSW 13 59,007,029 (GRCm39) missense probably damaging 1.00
R7387:Ntrk2 UTSW 13 59,133,793 (GRCm39) missense probably damaging 1.00
R7445:Ntrk2 UTSW 13 58,994,576 (GRCm39) missense probably benign 0.03
R7561:Ntrk2 UTSW 13 59,009,202 (GRCm39) missense probably benign 0.31
R8044:Ntrk2 UTSW 13 59,274,313 (GRCm39) missense probably damaging 1.00
R8422:Ntrk2 UTSW 13 59,133,715 (GRCm39) missense probably damaging 1.00
R8941:Ntrk2 UTSW 13 59,208,109 (GRCm39) missense probably damaging 1.00
R8990:Ntrk2 UTSW 13 59,007,988 (GRCm39) nonsense probably null
R9129:Ntrk2 UTSW 13 59,276,084 (GRCm39) missense probably benign 0.01
Z1176:Ntrk2 UTSW 13 59,022,147 (GRCm39) missense probably benign
Z1177:Ntrk2 UTSW 13 59,007,087 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGTCTGACAGTGATTCAG -3'
(R):5'- GGTTCCATGGTCTCTACATCAC -3'

Sequencing Primer
(F):5'- ACAGTGATTCAGATTCTCTGGGCC -3'
(R):5'- CTAGTAGAACCTCCGATCTGTGATG -3'
Posted On 2020-01-23