Incidental Mutation 'R2063:Ntrk2'
ID 228881
Institutional Source Beutler Lab
Gene Symbol Ntrk2
Ensembl Gene ENSMUSG00000055254
Gene Name neurotrophic tyrosine kinase, receptor, type 2
Synonyms trkB, Tkrb, C030027L06Rik
MMRRC Submission 040068-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R2063 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 58954383-59281784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59007111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 238 (K238Q)
Ref Sequence ENSEMBL: ENSMUSP00000153337 (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: K238Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: K238Q

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: K238Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: K238Q

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 benign
Transcript: ENSMUST00000224259
AA Change: K238Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000224402
AA Change: K238Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000225488
AA Change: K238Q

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000225583
AA Change: K238Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225950
AA Change: K238Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Abca15 A T 7: 119,960,127 (GRCm39) T637S possibly damaging Het
Adgrv1 T C 13: 81,709,588 (GRCm39) K1135R possibly damaging Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
AI467606 A G 7: 126,692,009 (GRCm39) S195G probably damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cic T A 7: 24,972,876 (GRCm39) V869E probably damaging Het
Cpsf2 A G 12: 101,949,722 (GRCm39) D118G probably damaging Het
Csnk1g1 A G 9: 65,909,512 (GRCm39) S210G probably damaging Het
Cyp2c40 T A 19: 39,775,224 (GRCm39) M343L probably benign Het
Cyp4a12b A T 4: 115,290,700 (GRCm39) D274V possibly damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah3 C T 7: 119,551,132 (GRCm39) M3062I probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Elavl2 A T 4: 91,141,687 (GRCm39) S278R possibly damaging Het
Emilin2 T C 17: 71,581,950 (GRCm39) S259G probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Fbxo21 T C 5: 118,115,031 (GRCm39) S56P probably benign Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Foxj2 A T 6: 122,817,200 (GRCm39) H509L probably benign Het
Fth1 T A 19: 9,961,576 (GRCm39) L49Q probably damaging Het
Gbp11 C A 5: 105,476,450 (GRCm39) E220* probably null Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm1527 C A 3: 28,980,796 (GRCm39) T632N probably benign Het
Gm4787 A T 12: 81,425,694 (GRCm39) S155T probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Helb T C 10: 119,941,671 (GRCm39) Y339C probably benign Het
Hs3st4 A G 7: 123,996,236 (GRCm39) I301V probably benign Het
Hunk A G 16: 90,290,368 (GRCm39) D382G probably damaging Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il10 T C 1: 130,947,770 (GRCm39) L41P probably damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Krt90 T C 15: 101,466,794 (GRCm39) E263G probably benign Het
Lama2 C T 10: 27,040,922 (GRCm39) C1467Y probably damaging Het
Maco1 A T 4: 134,555,590 (GRCm39) N294K possibly damaging Het
Med24 A G 11: 98,606,472 (GRCm39) L330P probably damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Mtcl1 T C 17: 66,653,350 (GRCm39) R1065G probably damaging Het
Mtmr14 G A 6: 113,217,322 (GRCm39) G38D probably damaging Het
Mtus1 T C 8: 41,535,745 (GRCm39) E657G probably damaging Het
Muc21 T A 17: 35,932,297 (GRCm39) probably benign Het
Myo5c A T 9: 75,189,150 (GRCm39) Q1020L probably benign Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nckap1 T C 2: 80,400,494 (GRCm39) K69R probably damaging Het
Nlrp1b T C 11: 71,051,912 (GRCm39) N1012D probably benign Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or52n2b T C 7: 104,565,982 (GRCm39) N174D probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pfpl C T 19: 12,407,237 (GRCm39) S496L probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Pkhd1l1 A T 15: 44,414,148 (GRCm39) H2805L possibly damaging Het
Pla2g4a T C 1: 149,716,427 (GRCm39) N678S possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Polr1a T G 6: 71,913,269 (GRCm39) probably null Het
Prl3d3 A C 13: 27,346,304 (GRCm39) E180D probably benign Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Prpf3 A T 3: 95,751,551 (GRCm39) D383E probably benign Het
Psmc4 A T 7: 27,748,322 (GRCm39) L73H probably damaging Het
Rapgef3 C A 15: 97,664,842 (GRCm39) G7V probably damaging Het
Rasl12 G A 9: 65,318,106 (GRCm39) G157R probably damaging Het
Rnf38 A C 4: 44,149,098 (GRCm39) V83G probably damaging Het
Rnls A C 19: 33,179,944 (GRCm39) S51A probably benign Het
Siglecf A G 7: 43,001,804 (GRCm39) T205A possibly damaging Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc12a5 C T 2: 164,839,067 (GRCm39) R1072W probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Specc1 T G 11: 62,009,122 (GRCm39) S293A probably benign Het
Speer2 T G 16: 69,657,385 (GRCm39) Q86P probably benign Het
Tbc1d15 T C 10: 115,065,078 (GRCm39) D169G probably benign Het
Tbx20 C A 9: 24,681,067 (GRCm39) E142* probably null Het
Tcp1 T A 17: 13,139,699 (GRCm39) L199H probably damaging Het
Tex26 A T 5: 149,363,204 (GRCm39) R5W probably damaging Het
Tg C A 15: 66,700,402 (GRCm39) A120E probably damaging Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Vps54 C T 11: 21,227,955 (GRCm39) T176I probably damaging Het
Wdr95 T C 5: 149,502,627 (GRCm39) probably null Het
Zfp81 T C 17: 33,554,278 (GRCm39) T179A 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
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
Predicted Primers PCR Primer
(F):5'- GACCATTTTGATTCCGACTGTAACTG -3'
(R):5'- GGCACATAAAATATTGGGTGGC -3'

Sequencing Primer
(F):5'- CCGACTGTAACTGTTTGTGTGC -3'
(R):5'- ACTTGACAATGTAGGGTCACC -3'
Posted On 2014-09-17