Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Ntrk3'

202813

Institutional Source

Beutler Lab

Gene Symbol

Ntrk3

Ensembl Gene

ENSMUSG00000059146

Gene Name

neurotrophic tyrosine kinase, receptor, type 3

Synonyms

TrkC

MMRRC Submission

039817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78175959-78738012 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 78477935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039431] [ENSMUST00000039438] [ENSMUST00000193002] [ENSMUST00000195262]

AlphaFold

Q6VNS1

Predicted Effect

probably benign
Transcript: ENSMUST00000039431

SMART Domains

Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146

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 benign
Transcript: ENSMUST00000039438

SMART Domains

Protein: ENSMUSP00000038324
Gene: ENSMUSG00000059146

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	3.1e-8	PFAM
transmembrane domain	429	451	N/A	INTRINSIC
PDB:2MFQ\|B	497	517	2e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155795

Predicted Effect

probably benign
Transcript: ENSMUST00000193002

SMART Domains

Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146

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

SMART Domains

Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146

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

noncoding transcript
Transcript: ENSMUST00000206167

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149 (GRCm38)	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575 (GRCm38)	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260 (GRCm38)	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349 (GRCm38)	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035 (GRCm38)	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434 (GRCm38)	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128 (GRCm38)	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843 (GRCm38)	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076 (GRCm38)	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861 (GRCm38)	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072 (GRCm38)	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880 (GRCm38)	E390G	probably benign	Het
Cars	C	A	7: 143,592,474 (GRCm38)	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043 (GRCm38)	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134 (GRCm38)	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806 (GRCm38)		probably null	Het
Cpd	T	C	11: 76,792,798 (GRCm38)	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802 (GRCm38)	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077 (GRCm38)	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335 (GRCm38)		probably null	Het
Dnah5	A	G	15: 28,313,786 (GRCm38)	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665 (GRCm38)		probably benign	Het
Dync2h1	A	G	9: 7,081,084 (GRCm38)	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537 (GRCm38)	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132 (GRCm38)	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325 (GRCm38)		noncoding transcript	Het
Golim4	A	T	3: 75,908,149 (GRCm38)	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722 (GRCm38)	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403 (GRCm38)	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202 (GRCm38)	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786 (GRCm38)	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572 (GRCm38)		probably null	Het
Kcnh8	T	C	17: 52,893,933 (GRCm38)	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805 (GRCm38)		probably benign	Het
Kmt2a	G	A	9: 44,819,675 (GRCm38)		probably benign	Het
Lhx6	G	T	2: 36,087,458 (GRCm38)	C327*	probably null	Het
Lifr	A	G	15: 7,181,856 (GRCm38)	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240 (GRCm38)	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582 (GRCm38)	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988 (GRCm38)	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809 (GRCm38)	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536 (GRCm38)		probably benign	Het
Magel2	A	T	7: 62,377,738 (GRCm38)	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735 (GRCm38)		probably benign	Het
Mnx1	T	A	5: 29,474,189 (GRCm38)	S299C	unknown	Het
Mov10	A	T	3: 104,818,116 (GRCm38)	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897 (GRCm38)	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273 (GRCm38)		probably null	Het
Ndufa4	A	T	6: 11,900,575 (GRCm38)	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664 (GRCm38)	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142 (GRCm38)	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516 (GRCm38)	E782D	probably damaging	Het
Olfr341	A	G	2: 36,480,047 (GRCm38)	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436 (GRCm38)	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495 (GRCm38)	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214 (GRCm38)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308 (GRCm38)	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684 (GRCm38)	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253 (GRCm38)	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365 (GRCm38)		probably null	Het
Ptgdr	A	T	14: 44,858,579 (GRCm38)	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052 (GRCm38)	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772 (GRCm38)	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161 (GRCm38)		probably null	Het
Qrich2	C	T	11: 116,441,449 (GRCm38)	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402 (GRCm38)	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967 (GRCm38)	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741 (GRCm38)		probably null	Het
Slfn9	T	A	11: 82,981,307 (GRCm38)	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871 (GRCm38)	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517 (GRCm38)	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443 (GRCm38)		probably benign	Het
Tacc1	A	T	8: 25,164,493 (GRCm38)	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833 (GRCm38)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645 (GRCm38)	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054 (GRCm38)	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927 (GRCm38)	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940 (GRCm38)		probably null	Het
Txk	T	A	5: 72,696,579 (GRCm38)	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945 (GRCm38)	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376 (GRCm38)	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547 (GRCm38)	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791 (GRCm38)	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489 (GRCm38)	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431 (GRCm38)	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605 (GRCm38)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644 (GRCm38)	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304 (GRCm38)	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005 (GRCm38)	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520 (GRCm38)	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434 (GRCm38)	I1423F	possibly damaging	Het

Other mutations in Ntrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Ntrk3	APN	7	78,250,873 (GRCm38)	missense	probably benign	0.03
IGL00862:Ntrk3	APN	7	78,247,177 (GRCm38)	missense	probably damaging	1.00
IGL00972:Ntrk3	APN	7	78,247,322 (GRCm38)	missense	possibly damaging	0.95
IGL00976:Ntrk3	APN	7	78,450,953 (GRCm38)	missense	probably benign	0.02
IGL02172:Ntrk3	APN	7	78,460,272 (GRCm38)	splice site	probably benign
IGL02175:Ntrk3	APN	7	78,247,228 (GRCm38)	missense	probably damaging	1.00
IGL02213:Ntrk3	APN	7	78,462,931 (GRCm38)	missense	probably benign	0.17
IGL02363:Ntrk3	APN	7	78,453,337 (GRCm38)	missense	probably benign	0.24
IGL02527:Ntrk3	APN	7	78,451,949 (GRCm38)	missense	probably benign
IGL02673:Ntrk3	APN	7	78,250,764 (GRCm38)	missense	probably damaging	1.00
IGL02755:Ntrk3	APN	7	78,460,439 (GRCm38)	missense	probably benign
IGL02998:Ntrk3	APN	7	78,577,657 (GRCm38)	missense	probably damaging	0.98
IGL03235:Ntrk3	APN	7	78,192,592 (GRCm38)	missense	probably damaging	1.00
R1465:Ntrk3	UTSW	7	78,356,014 (GRCm38)	splice site	probably benign
R1505:Ntrk3	UTSW	7	78,460,524 (GRCm38)	missense	probably damaging	0.99
R1638:Ntrk3	UTSW	7	78,247,288 (GRCm38)	missense	probably damaging	1.00
R1641:Ntrk3	UTSW	7	78,356,074 (GRCm38)	missense	probably damaging	1.00
R1775:Ntrk3	UTSW	7	78,356,041 (GRCm38)	missense	possibly damaging	0.60
R1827:Ntrk3	UTSW	7	78,247,301 (GRCm38)	missense	probably damaging	1.00
R1868:Ntrk3	UTSW	7	78,192,604 (GRCm38)	missense	possibly damaging	0.90
R1873:Ntrk3	UTSW	7	78,462,839 (GRCm38)	missense	probably benign
R1929:Ntrk3	UTSW	7	78,516,723 (GRCm38)	splice site	probably null
R1941:Ntrk3	UTSW	7	78,247,262 (GRCm38)	missense	probably damaging	1.00
R2132:Ntrk3	UTSW	7	78,477,935 (GRCm38)	splice site	probably benign
R2214:Ntrk3	UTSW	7	78,516,772 (GRCm38)	missense	probably damaging	1.00
R2221:Ntrk3	UTSW	7	78,198,852 (GRCm38)	missense	probably damaging	1.00
R2223:Ntrk3	UTSW	7	78,198,852 (GRCm38)	missense	probably damaging	1.00
R2271:Ntrk3	UTSW	7	78,516,723 (GRCm38)	splice site	probably null
R2441:Ntrk3	UTSW	7	78,302,662 (GRCm38)	missense	probably damaging	1.00
R3108:Ntrk3	UTSW	7	78,460,515 (GRCm38)	missense	probably benign	0.01
R3109:Ntrk3	UTSW	7	78,460,515 (GRCm38)	missense	probably benign	0.01
R3959:Ntrk3	UTSW	7	78,198,842 (GRCm38)	missense	probably damaging	1.00
R4016:Ntrk3	UTSW	7	78,462,947 (GRCm38)	splice site	probably benign
R4028:Ntrk3	UTSW	7	78,192,710 (GRCm38)	missense	probably damaging	1.00
R4067:Ntrk3	UTSW	7	78,517,437 (GRCm38)	missense	probably damaging	1.00
R4398:Ntrk3	UTSW	7	78,250,769 (GRCm38)	nonsense	probably null
R4664:Ntrk3	UTSW	7	78,461,099 (GRCm38)	missense	probably damaging	0.99
R5045:Ntrk3	UTSW	7	78,460,424 (GRCm38)	missense	probably benign	0.13
R5081:Ntrk3	UTSW	7	78,577,774 (GRCm38)	missense	probably damaging	0.99
R5151:Ntrk3	UTSW	7	78,247,300 (GRCm38)	missense	probably damaging	1.00
R5249:Ntrk3	UTSW	7	78,461,166 (GRCm38)	missense	possibly damaging	0.87
R5294:Ntrk3	UTSW	7	78,517,506 (GRCm38)	splice site	probably null
R5594:Ntrk3	UTSW	7	78,451,899 (GRCm38)	missense	probably benign	0.10
R5923:Ntrk3	UTSW	7	78,451,928 (GRCm38)	missense	possibly damaging	0.61
R6878:Ntrk3	UTSW	7	78,304,372 (GRCm38)	missense	probably benign	0.00
R7083:Ntrk3	UTSW	7	78,250,839 (GRCm38)	missense	probably damaging	1.00
R7178:Ntrk3	UTSW	7	78,356,147 (GRCm38)	missense	possibly damaging	0.86
R7487:Ntrk3	UTSW	7	78,250,713 (GRCm38)	missense	probably damaging	1.00
R7607:Ntrk3	UTSW	7	78,250,873 (GRCm38)	missense	probably benign	0.03
R7800:Ntrk3	UTSW	7	78,302,740 (GRCm38)	missense	probably benign	0.09
R7961:Ntrk3	UTSW	7	78,453,328 (GRCm38)	missense	probably benign
R7976:Ntrk3	UTSW	7	78,356,206 (GRCm38)	missense	probably damaging	0.97
R8009:Ntrk3	UTSW	7	78,453,328 (GRCm38)	missense	probably benign
R8032:Ntrk3	UTSW	7	78,356,059 (GRCm38)	missense	probably damaging	1.00
R8104:Ntrk3	UTSW	7	78,577,702 (GRCm38)	missense	probably damaging	0.99
R8230:Ntrk3	UTSW	7	78,250,770 (GRCm38)	missense	probably damaging	1.00
R8254:Ntrk3	UTSW	7	78,192,578 (GRCm38)	missense	probably damaging	1.00
R8412:Ntrk3	UTSW	7	78,356,149 (GRCm38)	missense	probably benign	0.02
R8465:Ntrk3	UTSW	7	78,462,883 (GRCm38)	missense	probably damaging	0.99
R8841:Ntrk3	UTSW	7	78,356,093 (GRCm38)	missense	probably damaging	0.99
R9187:Ntrk3	UTSW	7	78,247,218 (GRCm38)	missense	possibly damaging	0.93
R9444:Ntrk3	UTSW	7	78,461,057 (GRCm38)	missense	probably damaging	1.00
R9475:Ntrk3	UTSW	7	78,302,732 (GRCm38)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ATGCTCAATGCTCTCCAACC -3'
(R):5'- GGTCTCAACTGTTAGCAGAAAC -3'

Sequencing Primer
(F):5'- GCTCAATGCTCTCCAACCCAAAC -3'
(R):5'- GTTAGCAGAAACACCATTAGCAATG -3'

Posted On

2014-06-23