Incidental Mutation 'IGL02331:Ntrk2'
ID 288702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntrk2
Ensembl Gene ENSMUSG00000055254
Gene Name neurotrophic tyrosine kinase, receptor, type 2
Synonyms trkB, Tkrb, C030027L06Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # IGL02331
Quality Score
Status
Chromosome 13
Chromosomal Location 58954383-59281784 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 58994670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079828] [ENSMUST00000109838] [ENSMUST00000224259] [ENSMUST00000224402] [ENSMUST00000225488] [ENSMUST00000225583] [ENSMUST00000225950]
AlphaFold P15209
Predicted Effect probably null
Transcript: ENSMUST00000079828
SMART Domains Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254

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 null
Transcript: ENSMUST00000109838
SMART Domains Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254

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 probably null
Transcript: ENSMUST00000224259
Predicted Effect probably null
Transcript: ENSMUST00000224402
Predicted Effect probably null
Transcript: ENSMUST00000225488
Predicted Effect probably null
Transcript: ENSMUST00000225583
Predicted Effect probably null
Transcript: ENSMUST00000225950
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,862,170 (GRCm39) F241L possibly damaging Het
Alx1 A G 10: 102,858,160 (GRCm39) F180L possibly damaging Het
Apaf1 T C 10: 90,895,481 (GRCm39) D428G probably damaging Het
Arap2 G T 5: 62,807,025 (GRCm39) probably benign Het
Arnt2 A G 7: 83,914,832 (GRCm39) Y511H probably damaging Het
Bmp7 A T 2: 172,714,724 (GRCm39) C362S probably damaging Het
Bpifb9a A G 2: 154,104,307 (GRCm39) D250G possibly damaging Het
Ccnk T A 12: 108,155,343 (GRCm39) L100H probably damaging Het
Cdh23 T C 10: 60,301,322 (GRCm39) I451V probably damaging Het
Cemip A G 7: 83,613,192 (GRCm39) probably null Het
Cep78 T A 19: 15,951,779 (GRCm39) Q342L probably benign Het
Clca3b T C 3: 144,547,167 (GRCm39) probably benign Het
Cpb2 A G 14: 75,520,844 (GRCm39) R420G possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dbnl T C 11: 5,749,997 (GRCm39) *433R probably null Het
Elovl5 T C 9: 77,887,181 (GRCm39) S191P possibly damaging Het
Fbxo42 A G 4: 140,895,157 (GRCm39) E40G probably benign Het
Fpgt T C 3: 154,793,499 (GRCm39) D176G possibly damaging Het
Gm1110 C A 9: 26,824,583 (GRCm39) probably null Het
Grik4 A T 9: 42,453,284 (GRCm39) S700R probably damaging Het
Herc4 T C 10: 63,099,939 (GRCm39) S121P probably benign Het
Hps4 T C 5: 112,517,402 (GRCm39) V263A probably benign Het
Hsd11b1 A C 1: 192,922,924 (GRCm39) L81R probably damaging Het
Ift122 T C 6: 115,864,285 (GRCm39) M310T probably damaging Het
Isg20l2 G T 3: 87,839,394 (GRCm39) V202L probably damaging Het
Klf3 A G 5: 64,986,415 (GRCm39) K111E probably damaging Het
Kxd1 T C 8: 70,968,090 (GRCm39) T128A probably benign Het
Lgals7 A G 7: 28,565,143 (GRCm39) T94A probably benign Het
Lrp5 T C 19: 3,641,816 (GRCm39) H1382R possibly damaging Het
Muc6 T C 7: 141,226,726 (GRCm39) T1434A possibly damaging Het
Mybl2 C T 2: 162,916,605 (GRCm39) R419W probably damaging Het
Myo5b A T 18: 74,771,111 (GRCm39) probably null Het
Myo7a A G 7: 97,702,389 (GRCm39) V2138A possibly damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Or8g21 A G 9: 38,906,402 (GRCm39) S110P probably damaging Het
Osbpl5 A G 7: 143,263,532 (GRCm39) V105A probably benign Het
Pfkp A C 13: 6,647,996 (GRCm39) F527V probably benign Het
Pilra C A 5: 137,833,917 (GRCm39) G47* probably null Het
Pkdrej C A 15: 85,705,528 (GRCm39) C136F probably damaging Het
Ppp1r16a T A 15: 76,575,200 (GRCm39) M36K probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf40 T C 7: 127,188,999 (GRCm39) V124A probably benign Het
St7l A G 3: 104,833,904 (GRCm39) T522A probably damaging Het
Stox2 G A 8: 47,644,979 (GRCm39) P891L probably damaging Het
Trbv12-1 T C 6: 41,090,972 (GRCm39) S115P probably damaging Het
Trpm1 A G 7: 63,884,800 (GRCm39) D827G probably benign Het
Ttll6 T A 11: 96,026,573 (GRCm39) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm39) C568F probably damaging Het
Usp29 A T 7: 6,965,155 (GRCm39) I333F probably benign Het
Vta1 G A 10: 14,581,138 (GRCm39) T23M probably damaging Het
Zswim8 A G 14: 20,773,325 (GRCm39) D1771G probably damaging Het
Other mutations in Ntrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Ntrk2 APN 13 58,994,665 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16