Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Ntrk2'

58622

Institutional Source

Beutler Lab

Gene Symbol

Ntrk2

Ensembl Gene

ENSMUSG00000055254

Gene Name

neurotrophic tyrosine kinase, receptor, type 2

Synonyms

C030027L06Rik, Tkrb, trkB

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58806569-59133970 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58846821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 184 (M184L)

Ref Sequence

ENSEMBL: ENSMUSP00000153152 (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: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: M184L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000109838
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: M184L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000224259
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224402
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225488
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225583
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225950
AA Change: M184L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Ntrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Ntrk2	APN	13	58846851	missense	probably damaging	1.00
IGL02331:Ntrk2	APN	13	58846856	critical splice donor site	probably null
IGL02465:Ntrk2	APN	13	59060380	missense	probably damaging	1.00
Brainy	UTSW	13	59126568	missense	probably damaging	1.00
PIT4366001:Ntrk2	UTSW	13	59060335	missense	probably damaging	1.00
R0102:Ntrk2	UTSW	13	58808793	missense	probably benign	0.00
R0547:Ntrk2	UTSW	13	58874370	missense	probably damaging	0.99
R0615:Ntrk2	UTSW	13	59128186	nonsense	probably null
R1770:Ntrk2	UTSW	13	58861318	missense	possibly damaging	0.67
R2063:Ntrk2	UTSW	13	58859297	missense	probably damaging	1.00
R2089:Ntrk2	UTSW	13	58859301	missense	possibly damaging	0.95
R2091:Ntrk2	UTSW	13	58859301	missense	possibly damaging	0.95
R2091:Ntrk2	UTSW	13	58859301	missense	possibly damaging	0.95
R2178:Ntrk2	UTSW	13	58808802	missense	probably benign	0.06
R2275:Ntrk2	UTSW	13	58861351	missense	probably damaging	1.00
R2370:Ntrk2	UTSW	13	59054434	missense	probably benign	0.28
R2413:Ntrk2	UTSW	13	58874412	missense	possibly damaging	0.56
R2520:Ntrk2	UTSW	13	59054276	splice site	probably null
R2926:Ntrk2	UTSW	13	59060284	missense	probably damaging	1.00
R4163:Ntrk2	UTSW	13	58860240	missense	probably damaging	1.00
R4320:Ntrk2	UTSW	13	58860146	missense	possibly damaging	0.48
R4348:Ntrk2	UTSW	13	58878259	missense	probably damaging	1.00
R4440:Ntrk2	UTSW	13	59060312	missense	probably damaging	1.00
R4534:Ntrk2	UTSW	13	59126529	missense	probably damaging	1.00
R4695:Ntrk2	UTSW	13	59126493	missense	probably damaging	0.99
R5356:Ntrk2	UTSW	13	59060242	missense	probably damaging	1.00
R5471:Ntrk2	UTSW	13	58871760	missense	probably benign	0.01
R5750:Ntrk2	UTSW	13	58808922	missense	probably benign	0.02
R5916:Ntrk2	UTSW	13	58808729	start codon destroyed	probably null	0.98
R5972:Ntrk2	UTSW	13	58837819	missense	probably damaging	1.00
R6015:Ntrk2	UTSW	13	59060395	missense	probably damaging	1.00
R6298:Ntrk2	UTSW	13	58871756	nonsense	probably null
R6419:Ntrk2	UTSW	13	58861299	nonsense	probably null
R6488:Ntrk2	UTSW	13	58861356	missense	possibly damaging	0.93
R6611:Ntrk2	UTSW	13	59054414	missense	probably damaging	1.00
R6827:Ntrk2	UTSW	13	59126568	missense	probably damaging	1.00
R6911:Ntrk2	UTSW	13	58859215	missense	probably damaging	1.00
R7387:Ntrk2	UTSW	13	58985979	missense	probably damaging	1.00
R7445:Ntrk2	UTSW	13	58846762	missense	probably benign	0.03
R7561:Ntrk2	UTSW	13	58861388	missense	probably benign	0.31
R8031:Ntrk2	UTSW	13	58874379	missense	probably benign
R8044:Ntrk2	UTSW	13	59126499	missense	probably damaging	1.00
R8422:Ntrk2	UTSW	13	58985901	missense	probably damaging	1.00
R8941:Ntrk2	UTSW	13	59060295	missense	probably damaging	1.00
R8990:Ntrk2	UTSW	13	58860174	nonsense	probably null
R9129:Ntrk2	UTSW	13	59128270	missense	probably benign	0.01
Z1176:Ntrk2	UTSW	13	58874333	missense	probably benign
Z1177:Ntrk2	UTSW	13	58859273	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTATTGTGCCATCAAAGTGGG -3'
(R):5'- ACGTCTGATTTGCCAGAGACACC -3'

Sequencing Primer
(F):5'- CATCAAAGTGGGCGTGACTC -3'
(R):5'- CCACAACACACTGTGAAGTCTG -3'

Posted On

2013-07-11