Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Ntrk3'

549678

Institutional Source

Beutler Lab

Gene Symbol

Ntrk3

Ensembl Gene

ENSMUSG00000059146

Gene Name

neurotrophic tyrosine kinase, receptor, type 3

Synonyms

TrkC

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78175959-78738012 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78250839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 584 (D584V)

Ref Sequence

ENSEMBL: ENSMUSP00000037909 (fasta)

Gene Model

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

AlphaFold

Q6VNS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039431
AA Change: D584V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: D584V

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: D584V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: D584V

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: D584V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: D584V

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

1x: 100.0%
3x: 100.0%
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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,560,241	M249K	possibly damaging	Het
Arhgef38	T	A	3: 133,132,436	Q613L	unknown	Het
Arpp21	A	G	9: 112,183,544	V70A	probably benign	Het
AW551984	T	C	9: 39,597,647	N327S	probably damaging	Het
Bnc1	T	C	7: 81,973,310	K723R	probably damaging	Het
Btbd7	A	G	12: 102,788,335	L724P	probably damaging	Het
Btnl10	G	T	11: 58,919,137	V35F	probably damaging	Het
Cd22	T	A	7: 30,868,048	T704S	probably damaging	Het
Cd4	T	G	6: 124,870,572	S210R	probably benign	Het
Cped1	A	G	6: 22,123,580	Q444R	probably benign	Het
Dusp26	A	G	8: 31,091,719		probably benign	Het
Dync1i1	C	T	6: 5,969,429	A418V	probably damaging	Het
Fibp	A	G	19: 5,463,631	D232G	probably damaging	Het
Frem2	T	A	3: 53,537,493	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr39	T	A	1: 125,677,418	W28R	probably damaging	Het
Greb1	A	G	12: 16,723,314	V253A	probably benign	Het
Hexim1	T	G	11: 103,117,166	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,560,971	R49L	possibly damaging	Het
Itch	A	T	2: 155,210,444	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,710,333	E129G	probably damaging	Het
Klk1b24	G	A	7: 44,191,801	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Lrmp	A	T	6: 145,169,783	N349I	probably damaging	Het
Lrrc37a	T	C	11: 103,503,340	I420V	probably benign	Het
Ltk	A	C	2: 119,752,074	C776G	probably damaging	Het
Mast4	A	C	13: 102,737,715	L1715R	probably damaging	Het
Med28	T	C	5: 45,523,536		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 66,860,486		probably benign	Het
Nckap1l	C	A	15: 103,482,124	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,818,300	K266E	possibly damaging	Het
Olfr107	T	C	17: 37,406,172	V208A	probably benign	Het
Olfr1261	A	G	2: 89,993,857	I155V	probably benign	Het
Olfr132	T	A	17: 38,130,710	T161S	probably benign	Het
Olfr193	T	C	16: 59,110,037	D191G	probably damaging	Het
Olfr733	G	A	14: 50,299,279	T10I	possibly damaging	Het
Picalm	T	A	7: 90,176,768	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prps1l3	A	T	12: 57,239,248	I275L	probably benign	Het
Psg26	G	A	7: 18,480,009	R243*	probably null	Het
Ranbp2	A	G	10: 58,479,230	H1924R	probably damaging	Het
Rasef	T	C	4: 73,790,984	D4G	probably benign	Het
Rttn	T	C	18: 89,090,598	L1642P	probably damaging	Het
Shroom3	T	C	5: 92,964,525	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,177,168	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,234,495	N231S	probably benign	Het
Sox18	T	C	2: 181,670,372	Q322R	possibly damaging	Het
Syde1	G	T	10: 78,587,069	P490T	probably benign	Het
Syne2	A	G	12: 75,943,888	I1881M	probably damaging	Het
Taf1c	T	C	8: 119,600,668	D387G	probably damaging	Het
Tenm4	T	A	7: 96,895,349	Y2228N	probably damaging	Het
Tmem173	T	C	18: 35,734,650	H331R	probably damaging	Het
Tubgcp5	C	T	7: 55,800,695	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,378,370	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,085,427	C152F	probably damaging	Het
Zfp52	T	A	17: 21,560,130	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,089,136	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,651,948	F597V	probably damaging	Het

Other mutations in Ntrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Ntrk3	APN	7	78250873	missense	probably benign	0.03
IGL00862:Ntrk3	APN	7	78247177	missense	probably damaging	1.00
IGL00972:Ntrk3	APN	7	78247322	missense	possibly damaging	0.95
IGL00976:Ntrk3	APN	7	78450953	missense	probably benign	0.02
IGL02172:Ntrk3	APN	7	78460272	splice site	probably benign
IGL02175:Ntrk3	APN	7	78247228	missense	probably damaging	1.00
IGL02213:Ntrk3	APN	7	78462931	missense	probably benign	0.17
IGL02363:Ntrk3	APN	7	78453337	missense	probably benign	0.24
IGL02527:Ntrk3	APN	7	78451949	missense	probably benign
IGL02673:Ntrk3	APN	7	78250764	missense	probably damaging	1.00
IGL02755:Ntrk3	APN	7	78460439	missense	probably benign
IGL02998:Ntrk3	APN	7	78577657	missense	probably damaging	0.98
IGL03235:Ntrk3	APN	7	78192592	missense	probably damaging	1.00
R1465:Ntrk3	UTSW	7	78356014	splice site	probably benign
R1505:Ntrk3	UTSW	7	78460524	missense	probably damaging	0.99
R1638:Ntrk3	UTSW	7	78247288	missense	probably damaging	1.00
R1641:Ntrk3	UTSW	7	78356074	missense	probably damaging	1.00
R1775:Ntrk3	UTSW	7	78356041	missense	possibly damaging	0.60
R1786:Ntrk3	UTSW	7	78477935	splice site	probably benign
R1827:Ntrk3	UTSW	7	78247301	missense	probably damaging	1.00
R1868:Ntrk3	UTSW	7	78192604	missense	possibly damaging	0.90
R1873:Ntrk3	UTSW	7	78462839	missense	probably benign
R1929:Ntrk3	UTSW	7	78516723	splice site	probably null
R1941:Ntrk3	UTSW	7	78247262	missense	probably damaging	1.00
R2132:Ntrk3	UTSW	7	78477935	splice site	probably benign
R2214:Ntrk3	UTSW	7	78516772	missense	probably damaging	1.00
R2221:Ntrk3	UTSW	7	78198852	missense	probably damaging	1.00
R2223:Ntrk3	UTSW	7	78198852	missense	probably damaging	1.00
R2271:Ntrk3	UTSW	7	78516723	splice site	probably null
R2441:Ntrk3	UTSW	7	78302662	missense	probably damaging	1.00
R3108:Ntrk3	UTSW	7	78460515	missense	probably benign	0.01
R3109:Ntrk3	UTSW	7	78460515	missense	probably benign	0.01
R3959:Ntrk3	UTSW	7	78198842	missense	probably damaging	1.00
R4016:Ntrk3	UTSW	7	78462947	splice site	probably benign
R4028:Ntrk3	UTSW	7	78192710	missense	probably damaging	1.00
R4067:Ntrk3	UTSW	7	78517437	missense	probably damaging	1.00
R4398:Ntrk3	UTSW	7	78250769	nonsense	probably null
R4664:Ntrk3	UTSW	7	78461099	missense	probably damaging	0.99
R5045:Ntrk3	UTSW	7	78460424	missense	probably benign	0.13
R5081:Ntrk3	UTSW	7	78577774	missense	probably damaging	0.99
R5151:Ntrk3	UTSW	7	78247300	missense	probably damaging	1.00
R5249:Ntrk3	UTSW	7	78461166	missense	possibly damaging	0.87
R5294:Ntrk3	UTSW	7	78517506	splice site	probably null
R5594:Ntrk3	UTSW	7	78451899	missense	probably benign	0.10
R5923:Ntrk3	UTSW	7	78451928	missense	possibly damaging	0.61
R6878:Ntrk3	UTSW	7	78304372	missense	probably benign	0.00
R7178:Ntrk3	UTSW	7	78356147	missense	possibly damaging	0.86
R7487:Ntrk3	UTSW	7	78250713	missense	probably damaging	1.00
R7607:Ntrk3	UTSW	7	78250873	missense	probably benign	0.03
R7800:Ntrk3	UTSW	7	78302740	missense	probably benign	0.09
R7961:Ntrk3	UTSW	7	78453328	missense	probably benign
R7976:Ntrk3	UTSW	7	78356206	missense	probably damaging	0.97
R8009:Ntrk3	UTSW	7	78453328	missense	probably benign
R8032:Ntrk3	UTSW	7	78356059	missense	probably damaging	1.00
R8104:Ntrk3	UTSW	7	78577702	missense	probably damaging	0.99
R8230:Ntrk3	UTSW	7	78250770	missense	probably damaging	1.00
R8254:Ntrk3	UTSW	7	78192578	missense	probably damaging	1.00
R8412:Ntrk3	UTSW	7	78356149	missense	probably benign	0.02
R8465:Ntrk3	UTSW	7	78462883	missense	probably damaging	0.99
R8841:Ntrk3	UTSW	7	78356093	missense	probably damaging	0.99
R9187:Ntrk3	UTSW	7	78247218	missense	possibly damaging	0.93
R9444:Ntrk3	UTSW	7	78461057	missense	probably damaging	1.00
R9475:Ntrk3	UTSW	7	78302732	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CCCACGGCTCAGTGAAATTG -3'
(R):5'- TTGACAGGAATCAAAATGGTGACTG -3'

Sequencing Primer
(F):5'- CACGGCTCAGTGAAATTGAGAGAG -3'
(R):5'- AAAGGGTTCACCAGTGTGCTC -3'

Posted On

2019-05-15