Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00862:Ntrk3'

12795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntrk3

Ensembl Gene

ENSMUSG00000059146

Gene Name

neurotrophic tyrosine kinase, receptor, type 3

Synonyms

TrkC

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00862

Quality Score

Status

Chromosome

Chromosomal Location

77825711-78228865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77896925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 704 (V704D)

Ref Sequence

ENSEMBL: ENSMUSP00000141534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000193002] [ENSMUST00000195262]

AlphaFold

Q6VNS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039431
AA Change: V704D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: V704D

Domain	Start	End	E-Value	Type
LRRNT	31	63	2.46e-4	SMART
LRRCT	160	208	3.58e-12	SMART
IG	216	302	1.24e-8	SMART
Pfam:I-set	308	392	2.4e-8	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
TyrKc	538	810	1.49e-145	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193002
AA Change: V704D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: V704D

Domain	Start	End	E-Value	Type
LRRNT	31	63	2.46e-4	SMART
LRRCT	160	208	3.58e-12	SMART
IG	216	302	1.24e-8	SMART
Pfam:I-set	308	392	2.4e-8	PFAM
Pfam:Ig_2	312	392	6.9e-4	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
TyrKc	538	824	4.29e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195262
AA Change: V704D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: V704D

Domain	Start	End	E-Value	Type
LRRNT	31	63	1.2e-6	SMART
LRRCT	160	208	1.8e-14	SMART
IG	216	302	5.1e-11	SMART
Pfam:I-set	308	392	4.7e-7	PFAM
Pfam:Ig_2	312	392	1.3e-2	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
TyrKc	538	849	9.7e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205868

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 and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,374 (GRCm39)	T886A	possibly damaging	Het
Clca3a1	T	A	3: 144,730,332 (GRCm39)	N171I	possibly damaging	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Ei24	C	T	9: 36,695,774 (GRCm39)	W239*	probably null	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Msh4	T	A	3: 153,589,372 (GRCm39)	D431V	possibly damaging	Het
Nt5el	T	A	13: 105,255,192 (GRCm39)	F424L	probably damaging	Het
Prune2	A	C	19: 17,096,713 (GRCm39)	H739P	probably benign	Het
Stra8	T	A	6: 34,914,998 (GRCm39)	N233K	probably benign	Het
Trpm6	A	G	19: 18,804,892 (GRCm39)	Y948C	probably damaging	Het
Xirp2	A	G	2: 67,347,247 (GRCm39)	I3163V	probably benign	Het
Zfat	C	T	15: 68,130,512 (GRCm39)		probably null	Het
Zfp53	T	A	17: 21,729,360 (GRCm39)	H464Q	probably benign	Het
Zfp760	C	A	17: 21,941,265 (GRCm39)	Q147K	probably benign	Het

Other mutations in Ntrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Ntrk3	APN	7	77,900,621 (GRCm39)	missense	probably benign	0.03
IGL00972:Ntrk3	APN	7	77,897,070 (GRCm39)	missense	possibly damaging	0.95
IGL00976:Ntrk3	APN	7	78,100,701 (GRCm39)	missense	probably benign	0.02
IGL02172:Ntrk3	APN	7	78,110,020 (GRCm39)	splice site	probably benign
IGL02175:Ntrk3	APN	7	77,896,976 (GRCm39)	missense	probably damaging	1.00
IGL02213:Ntrk3	APN	7	78,112,679 (GRCm39)	missense	probably benign	0.17
IGL02363:Ntrk3	APN	7	78,103,085 (GRCm39)	missense	probably benign	0.24
IGL02527:Ntrk3	APN	7	78,101,697 (GRCm39)	missense	probably benign
IGL02673:Ntrk3	APN	7	77,900,512 (GRCm39)	missense	probably damaging	1.00
IGL02755:Ntrk3	APN	7	78,110,187 (GRCm39)	missense	probably benign
IGL02998:Ntrk3	APN	7	78,227,405 (GRCm39)	missense	probably damaging	0.98
IGL03235:Ntrk3	APN	7	77,842,340 (GRCm39)	missense	probably damaging	1.00
R1465:Ntrk3	UTSW	7	78,005,762 (GRCm39)	splice site	probably benign
R1505:Ntrk3	UTSW	7	78,110,272 (GRCm39)	missense	probably damaging	0.99
R1638:Ntrk3	UTSW	7	77,897,036 (GRCm39)	missense	probably damaging	1.00
R1641:Ntrk3	UTSW	7	78,005,822 (GRCm39)	missense	probably damaging	1.00
R1775:Ntrk3	UTSW	7	78,005,789 (GRCm39)	missense	possibly damaging	0.60
R1786:Ntrk3	UTSW	7	78,127,683 (GRCm39)	splice site	probably benign
R1827:Ntrk3	UTSW	7	77,897,049 (GRCm39)	missense	probably damaging	1.00
R1868:Ntrk3	UTSW	7	77,842,352 (GRCm39)	missense	possibly damaging	0.90
R1873:Ntrk3	UTSW	7	78,112,587 (GRCm39)	missense	probably benign
R1929:Ntrk3	UTSW	7	78,166,471 (GRCm39)	splice site	probably null
R1941:Ntrk3	UTSW	7	77,897,010 (GRCm39)	missense	probably damaging	1.00
R2132:Ntrk3	UTSW	7	78,127,683 (GRCm39)	splice site	probably benign
R2214:Ntrk3	UTSW	7	78,166,520 (GRCm39)	missense	probably damaging	1.00
R2221:Ntrk3	UTSW	7	77,848,600 (GRCm39)	missense	probably damaging	1.00
R2223:Ntrk3	UTSW	7	77,848,600 (GRCm39)	missense	probably damaging	1.00
R2271:Ntrk3	UTSW	7	78,166,471 (GRCm39)	splice site	probably null
R2441:Ntrk3	UTSW	7	77,952,410 (GRCm39)	missense	probably damaging	1.00
R3108:Ntrk3	UTSW	7	78,110,263 (GRCm39)	missense	probably benign	0.01
R3109:Ntrk3	UTSW	7	78,110,263 (GRCm39)	missense	probably benign	0.01
R3959:Ntrk3	UTSW	7	77,848,590 (GRCm39)	missense	probably damaging	1.00
R4016:Ntrk3	UTSW	7	78,112,695 (GRCm39)	splice site	probably benign
R4028:Ntrk3	UTSW	7	77,842,458 (GRCm39)	missense	probably damaging	1.00
R4067:Ntrk3	UTSW	7	78,167,185 (GRCm39)	missense	probably damaging	1.00
R4398:Ntrk3	UTSW	7	77,900,517 (GRCm39)	nonsense	probably null
R4664:Ntrk3	UTSW	7	78,110,847 (GRCm39)	missense	probably damaging	0.99
R5045:Ntrk3	UTSW	7	78,110,172 (GRCm39)	missense	probably benign	0.13
R5081:Ntrk3	UTSW	7	78,227,522 (GRCm39)	missense	probably damaging	0.99
R5151:Ntrk3	UTSW	7	77,897,048 (GRCm39)	missense	probably damaging	1.00
R5249:Ntrk3	UTSW	7	78,110,914 (GRCm39)	missense	possibly damaging	0.87
R5294:Ntrk3	UTSW	7	78,167,254 (GRCm39)	splice site	probably null
R5594:Ntrk3	UTSW	7	78,101,647 (GRCm39)	missense	probably benign	0.10
R5923:Ntrk3	UTSW	7	78,101,676 (GRCm39)	missense	possibly damaging	0.61
R6878:Ntrk3	UTSW	7	77,954,120 (GRCm39)	missense	probably benign	0.00
R7083:Ntrk3	UTSW	7	77,900,587 (GRCm39)	missense	probably damaging	1.00
R7178:Ntrk3	UTSW	7	78,005,895 (GRCm39)	missense	possibly damaging	0.86
R7487:Ntrk3	UTSW	7	77,900,461 (GRCm39)	missense	probably damaging	1.00
R7607:Ntrk3	UTSW	7	77,900,621 (GRCm39)	missense	probably benign	0.03
R7800:Ntrk3	UTSW	7	77,952,488 (GRCm39)	missense	probably benign	0.09
R7961:Ntrk3	UTSW	7	78,103,076 (GRCm39)	missense	probably benign
R7976:Ntrk3	UTSW	7	78,005,954 (GRCm39)	missense	probably damaging	0.97
R8009:Ntrk3	UTSW	7	78,103,076 (GRCm39)	missense	probably benign
R8032:Ntrk3	UTSW	7	78,005,807 (GRCm39)	missense	probably damaging	1.00
R8104:Ntrk3	UTSW	7	78,227,450 (GRCm39)	missense	probably damaging	0.99
R8230:Ntrk3	UTSW	7	77,900,518 (GRCm39)	missense	probably damaging	1.00
R8254:Ntrk3	UTSW	7	77,842,326 (GRCm39)	missense	probably damaging	1.00
R8412:Ntrk3	UTSW	7	78,005,897 (GRCm39)	missense	probably benign	0.02
R8465:Ntrk3	UTSW	7	78,112,631 (GRCm39)	missense	probably damaging	0.99
R8841:Ntrk3	UTSW	7	78,005,841 (GRCm39)	missense	probably damaging	0.99
R9187:Ntrk3	UTSW	7	77,896,966 (GRCm39)	missense	possibly damaging	0.93
R9444:Ntrk3	UTSW	7	78,110,805 (GRCm39)	missense	probably damaging	1.00
R9475:Ntrk3	UTSW	7	77,952,480 (GRCm39)	missense	probably benign	0.27

Posted On

2012-12-06