Incidental Mutation 'R2926:Ntrk2'
ID 255777
Institutional Source Beutler Lab
Gene Symbol Ntrk2
Ensembl Gene ENSMUSG00000055254
Gene Name neurotrophic tyrosine kinase, receptor, type 2
Synonyms trkB, Tkrb, C030027L06Rik
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R2926 (G1)
Quality Score 177
Status Validated
Chromosome 13
Chromosomal Location 58954383-59281784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59208098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 648 (T648K)
Ref Sequence ENSEMBL: ENSMUSP00000153553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079828] [ENSMUST00000225488]
AlphaFold P15209
Predicted Effect probably damaging
Transcript: ENSMUST00000079828
AA Change: T648K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: T648K

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 noncoding transcript
Transcript: ENSMUST00000225244
Predicted Effect probably damaging
Transcript: ENSMUST00000225488
AA Change: T648K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3777 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly damaging 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
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
R8031:Ntrk2 UTSW 13 59,022,193 (GRCm39) missense probably benign
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'- TCGGTAGAAATGAGGCCGCTAG -3'
(R):5'- GCTACTCACCCGATAGTAGTCG -3'

Sequencing Primer
(F):5'- AGGCCGCTAGGTGCTTTC -3'
(R):5'- CGATAGTAGTCGGTGCTGTAC -3'
Posted On 2014-12-29