Incidental Mutation 'R7561:Ntrk2'
ID 585151
Institutional Source Beutler Lab
Gene Symbol Ntrk2
Ensembl Gene ENSMUSG00000055254
Gene Name neurotrophic tyrosine kinase, receptor, type 2
Synonyms trkB, Tkrb, C030027L06Rik
MMRRC Submission 045654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R7561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 58954383-59281784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59009202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 331 (C331Y)
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: C331Y

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: C331Y

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 damaging
Transcript: ENSMUST00000109838
AA Change: C331Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: C331Y

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 damaging
Transcript: ENSMUST00000224259
AA Change: C331Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224402
AA Change: C331Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000225488
AA Change: C331Y

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000225583
AA Change: C331Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000225950
AA Change: C331Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,341,314 (GRCm39) N314K probably benign Het
A430005L14Rik T A 4: 154,045,097 (GRCm39) I80N probably benign Het
Abca2 A G 2: 25,336,707 (GRCm39) H2271R probably damaging Het
Acad8 T C 9: 26,890,538 (GRCm39) I257V probably benign Het
Acot12 A T 13: 91,918,243 (GRCm39) T179S probably damaging Het
Adcy10 A G 1: 165,386,741 (GRCm39) R1155G possibly damaging Het
Adcy9 C T 16: 4,236,028 (GRCm39) C461Y probably damaging Het
Adgrf1 G A 17: 43,622,000 (GRCm39) V746I possibly damaging Het
Agbl1 C A 7: 76,348,509 (GRCm39) Q869K unknown Het
AI837181 T G 19: 5,476,491 (GRCm39) V218G probably damaging Het
Alg9 T C 9: 50,754,074 (GRCm39) S585P possibly damaging Het
Arhgef38 T C 3: 132,866,489 (GRCm39) Q216R Het
Asb4 A T 6: 5,430,968 (GRCm39) H401L possibly damaging Het
Atg7 G T 6: 114,650,002 (GRCm39) A60S possibly damaging Het
Atp10a T A 7: 58,476,881 (GRCm39) C1199S probably damaging Het
Blm G A 7: 80,152,276 (GRCm39) A557V probably damaging Het
Cbln1 A T 8: 88,198,624 (GRCm39) M82K probably benign Het
Ccdc183 T G 2: 25,501,529 (GRCm39) I293L probably benign Het
Col6a3 A G 1: 90,703,463 (GRCm39) S3035P unknown Het
Cux2 A T 5: 122,017,931 (GRCm39) S206T probably benign Het
Cyfip2 T C 11: 46,161,425 (GRCm39) D355G probably benign Het
Dhrs2 A G 14: 55,474,698 (GRCm39) H111R probably benign Het
Eif3b T G 5: 140,428,109 (GRCm39) D781E probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fermt1 A T 2: 132,758,008 (GRCm39) I469N probably benign Het
Fgf20 G T 8: 40,732,975 (GRCm39) N154K possibly damaging Het
Fndc10 T A 4: 155,779,328 (GRCm39) V124E probably damaging Het
Fra10ac1 T C 19: 38,210,324 (GRCm39) D13G probably damaging Het
Gpatch1 A G 7: 35,008,800 (GRCm39) S74P probably damaging Het
Gramd1b G A 9: 40,312,911 (GRCm39) T19I unknown Het
Grm8 T C 6: 27,429,524 (GRCm39) T457A probably benign Het
Gucy2g C A 19: 55,194,772 (GRCm39) V882L probably benign Het
Hectd4 G A 5: 121,429,288 (GRCm39) R811H possibly damaging Het
Hk1 C T 10: 62,116,807 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il10ra T A 9: 45,167,117 (GRCm39) D480V probably benign Het
Il18rap A T 1: 40,563,537 (GRCm39) H22L probably benign Het
Inpp5a T A 7: 139,147,338 (GRCm39) I321N probably damaging Het
Insyn1 A G 9: 58,406,687 (GRCm39) D199G probably damaging Het
Kat2b T G 17: 53,948,286 (GRCm39) L352R probably benign Het
Katnip C T 7: 125,441,894 (GRCm39) S627L probably benign Het
Kcna1 A T 6: 126,619,108 (GRCm39) V404E probably damaging Het
Mcm3ap T A 10: 76,328,712 (GRCm39) V1110E possibly damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Mpdz A T 4: 81,225,388 (GRCm39) N1368K probably damaging Het
Mpzl3 G T 9: 44,966,610 (GRCm39) V24F probably benign Het
Mybph G A 1: 134,121,465 (GRCm39) probably null Het
Ncam1 G T 9: 49,476,242 (GRCm39) D282E probably damaging Het
Nwd2 T A 5: 63,964,434 (GRCm39) C1339* probably null Het
Or3a1d T C 11: 74,238,436 (GRCm39) probably benign Het
Or5b98 T C 19: 12,931,403 (GRCm39) V150A probably benign Het
Or8k33 T C 2: 86,383,661 (GRCm39) D269G probably benign Het
Osbpl6 C A 2: 76,416,498 (GRCm39) T672N probably damaging Het
Pds5b T C 5: 150,662,783 (GRCm39) probably null Het
Perm1 A G 4: 156,303,217 (GRCm39) N587S probably benign Het
Pex7 A T 10: 19,770,012 (GRCm39) C165* probably null Het
Pik3r4 A G 9: 105,564,446 (GRCm39) T1347A possibly damaging Het
Pitpnm3 T C 11: 71,942,008 (GRCm39) D933G probably benign Het
Rnf213 T A 11: 119,332,545 (GRCm39) F2586I Het
Scn10a A G 9: 119,523,390 (GRCm39) M1T probably null Het
Sdhaf3 T A 6: 6,956,079 (GRCm39) L18Q not run Het
Septin7 A G 9: 25,209,151 (GRCm39) E256G possibly damaging Het
Slc35b2 A G 17: 45,877,727 (GRCm39) T236A probably damaging Het
Slc4a4 G A 5: 89,347,556 (GRCm39) G766R probably damaging Het
Slco6c1 G T 1: 97,000,691 (GRCm39) S537Y probably damaging Het
Srp68 T C 11: 116,139,593 (GRCm39) E452G probably damaging Het
Taf2 A T 15: 54,919,229 (GRCm39) M382K probably benign Het
Tas2r131 A G 6: 132,933,921 (GRCm39) L296P probably benign Het
Tlr9 A G 9: 106,103,148 (GRCm39) E813G probably benign Het
Trmt44 T C 5: 35,715,336 (GRCm39) E659G possibly damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Unc45a G T 7: 79,981,334 (GRCm39) S489R possibly damaging Het
Xrn1 T C 9: 95,881,511 (GRCm39) V795A probably benign Het
Zbtb22 A T 17: 34,136,952 (GRCm39) T366S probably benign Het
Zcchc10 T A 11: 53,215,545 (GRCm39) H6Q probably benign Het
Zfp60 A G 7: 27,447,955 (GRCm39) K208E probably damaging Het
Zfp780b A T 7: 27,664,037 (GRCm39) C173S possibly damaging Het
Zfp786 C A 6: 47,796,667 (GRCm39) R757L probably benign Het
Zfp936 G A 7: 42,839,339 (GRCm39) A269T probably damaging Het
Zfp976 T C 7: 42,265,701 (GRCm39) Y29C probably 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
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
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'- AAAAGGGAGGATTCTGAGCTTTCTG -3'
(R):5'- TACACACCGTAGTCGACTCC -3'

Sequencing Primer
(F):5'- CTGAGCTTTCTGGTGCTATTAAC -3'
(R):5'- TAGTCGACTCCAGGCCG -3'
Posted On 2019-10-17