Mutagenetix > Incidental Mutation

Incidental Mutation 'R1868:Ntrk3'

208950

Institutional Source

Beutler Lab

Gene Symbol

Ntrk3

Ensembl Gene

ENSMUSG00000059146

Gene Name

neurotrophic tyrosine kinase, receptor, type 3

Synonyms

TrkC

MMRRC Submission

039890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77825711-78228865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77842352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 825 (H825Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141534 (fasta)

Gene Model

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

AlphaFold

Q6VNS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039431
AA Change: H811Q

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: H811Q

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

possibly damaging
Transcript: ENSMUST00000193002
AA Change: H825Q

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: H825Q

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 benign
Transcript: ENSMUST00000195262
AA Change: H850Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: H850Q

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

unknown
Transcript: ENSMUST00000205354
AA Change: H46Q

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
A630073D07Rik	C	T	6: 132,603,457 (GRCm39)	E100K	unknown	Het
Abcc3	T	G	11: 94,254,889 (GRCm39)	D638A	probably benign	Het
Acadm	T	C	3: 153,635,889 (GRCm39)	I272V	probably benign	Het
Adam2	G	A	14: 66,315,107 (GRCm39)	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,537,135 (GRCm39)	I182K	probably benign	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Brca1	T	A	11: 101,388,839 (GRCm39)	H1675L	probably benign	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Btd	G	T	14: 31,389,266 (GRCm39)	G329V	probably benign	Het
Capsl	T	A	15: 9,461,916 (GRCm39)	L104*	probably null	Het
Cbx1	T	C	11: 96,693,554 (GRCm39)	S107P	probably benign	Het
Cd207	G	T	6: 83,648,683 (GRCm39)	Y326*	probably null	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Chsy3	A	G	18: 59,309,560 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,019,827 (GRCm39)	H551Q	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cybrd1	T	A	2: 70,967,978 (GRCm39)	F183Y	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,771 (GRCm39)	S208L	probably damaging	Het
Dlg2	A	T	7: 92,036,160 (GRCm39)	K719*	probably null	Het
Dppa1	A	T	11: 46,516,393 (GRCm39)		probably null	Het
Dse	A	G	10: 34,029,284 (GRCm39)	V602A	possibly damaging	Het
Elapor2	T	A	5: 9,529,251 (GRCm39)	I1028K	probably damaging	Het
Elmo1	C	T	13: 20,773,823 (GRCm39)	A611V	possibly damaging	Het
Ets2	T	C	16: 95,516,118 (GRCm39)	S233P	probably benign	Het
Fchsd2	G	A	7: 100,899,645 (GRCm39)		probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Fkbp4	T	C	6: 128,409,453 (GRCm39)	R402G	probably benign	Het
G2e3	T	A	12: 51,400,412 (GRCm39)	D21E	probably benign	Het
Gask1a	A	G	9: 121,794,493 (GRCm39)	T216A	possibly damaging	Het
Gck	A	T	11: 5,852,165 (GRCm39)	N391K	probably damaging	Het
Gm11077	T	A	6: 140,675,017 (GRCm39)	I3N	unknown	Het
Gm6793	T	C	8: 112,741,088 (GRCm39)	M185V	probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hat1	T	A	2: 71,251,627 (GRCm39)	Y225*	probably null	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Ido2	C	A	8: 25,043,776 (GRCm39)	M92I	possibly damaging	Het
Ifne	T	C	4: 88,797,908 (GRCm39)	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Jakmip3	A	G	7: 138,609,316 (GRCm39)	K140R	probably benign	Het
Kcnip3	T	C	2: 127,301,263 (GRCm39)	E237G	probably damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lars1	T	A	18: 42,347,902 (GRCm39)	I974F	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lhfpl4	T	A	6: 113,153,394 (GRCm39)	D125V	probably benign	Het
Luc7l	G	A	17: 26,499,030 (GRCm39)		probably benign	Het
Mei1	T	C	15: 82,009,154 (GRCm39)	L833P	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Muc4	C	T	16: 32,576,715 (GRCm39)	R2072C	unknown	Het
Myh3	A	G	11: 66,975,852 (GRCm39)	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,023,509 (GRCm39)	I115V	probably benign	Het
Neb	T	C	2: 52,216,756 (GRCm39)	K140E	probably damaging	Het
Niban1	A	G	1: 151,517,302 (GRCm39)	S104G	possibly damaging	Het
Npas2	A	G	1: 39,339,759 (GRCm39)	D103G	probably benign	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Or4c108	T	C	2: 88,804,128 (GRCm39)	T36A	possibly damaging	Het
Or5g23	T	A	2: 85,438,409 (GRCm39)	I282F	probably damaging	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or8c8	A	G	9: 38,164,986 (GRCm39)	E91G	probably damaging	Het
Orc4	A	G	2: 48,800,305 (GRCm39)	M281T	probably benign	Het
Osbpl5	C	A	7: 143,269,510 (GRCm39)	R22L	probably damaging	Het
Otos	A	G	1: 92,572,185 (GRCm39)	F47S	probably damaging	Het
Parp11	A	G	6: 127,447,740 (GRCm39)	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,535,137 (GRCm39)	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,331,534 (GRCm39)	S348L	probably benign	Het
Pdlim5	C	A	3: 142,012,060 (GRCm39)		probably null	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Piezo2	T	C	18: 63,152,415 (GRCm39)	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppa2	A	T	3: 133,053,858 (GRCm39)	I183F	probably damaging	Het
Pramel48	T	A	5: 95,630,758 (GRCm39)	Y212N	probably benign	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rexo1	T	C	10: 80,378,754 (GRCm39)	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,556,970 (GRCm39)	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,746,586 (GRCm39)	E1989K	probably benign	Het
Sema6c	A	G	3: 95,078,124 (GRCm39)	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,117,999 (GRCm39)	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,726,297 (GRCm39)	L249F	probably damaging	Het
Slc6a21	C	T	7: 44,937,252 (GRCm39)	P261S	probably benign	Het
Slco2b1	C	T	7: 99,335,243 (GRCm39)	C179Y	probably damaging	Het
Sox6	T	C	7: 115,258,773 (GRCm39)	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,885 (GRCm39)		noncoding transcript	Het
Sptbn1	C	A	11: 30,064,781 (GRCm39)	R1906L	possibly damaging	Het
Stac2	T	C	11: 97,943,771 (GRCm39)	D13G	probably benign	Het
Stat5a	G	T	11: 100,764,955 (GRCm39)	R226L	probably damaging	Het
Suz12	A	G	11: 79,904,425 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,936 (GRCm39)	H225Q	probably benign	Het
Tdo2	T	A	3: 81,867,853 (GRCm39)	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201 (GRCm39)	W530R	probably damaging	Het
Tlr6	T	C	5: 65,112,172 (GRCm39)	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,772,431 (GRCm39)	A573S	probably damaging	Het
Tpbpb	A	T	13: 61,050,344 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,928,447 (GRCm39)	S590T	probably damaging	Het
Ttll3	G	T	6: 113,369,725 (GRCm39)	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	C	9: 48,928,007 (GRCm39)	V363A	probably damaging	Het
Vcan	A	G	13: 89,838,990 (GRCm39)	S2185P	probably benign	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,166,537 (GRCm39)	P865S	probably damaging	Het
Wapl	A	G	14: 34,414,415 (GRCm39)	T426A	probably benign	Het
Wdr37	G	T	13: 8,886,887 (GRCm39)	T300K	probably damaging	Het
Wrap53	A	T	11: 69,452,990 (GRCm39)	V439E	probably null	Het
Wrn	A	G	8: 33,747,249 (GRCm39)	S868P	probably benign	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283 (GRCm39)	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,250,100 (GRCm39)	K544E	probably damaging	Het
Zfp939	T	A	7: 39,122,728 (GRCm39)		noncoding transcript	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	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
IGL00862:Ntrk3	APN	7	77,896,925 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGCAGGCACTTGAGTTTATATG -3'
(R):5'- TCTTGGGCTAGGCAGAAGTC -3'

Sequencing Primer
(F):5'- ATATGAAGATGTTCGTTTCCGTC -3'
(R):5'- CCAAGGATGGGCTTTGAATAAACTTC -3'

Posted On

2014-06-30