Mutagenetix > Incidental Mutations

Incidental Mutation 'R1770:Ntrk2'

196511

Institutional Source

Beutler Lab

Gene Symbol

Ntrk2

Ensembl Gene

ENSMUSG00000055254

Gene Name

neurotrophic tyrosine kinase, receptor, type 2

Synonyms

C030027L06Rik, Tkrb, trkB

MMRRC Submission

039801-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R1770 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

58806569-59133970 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58861318 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 308 (R308G)

Ref Sequence

ENSEMBL: ENSMUSP00000153333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079828] [ENSMUST00000109838] [ENSMUST00000224259] [ENSMUST00000224402] [ENSMUST00000225488] [ENSMUST00000225583] [ENSMUST00000225950]

Predicted Effect

probably benign
Transcript: ENSMUST00000079828
AA Change: R308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: R308G

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: R308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: R308G

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: R308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224402
AA Change: R308G

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000225488
AA Change: R308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000225583
AA Change: R308G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000225950
AA Change: R308G

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,418,021	T230S	probably benign	Het
Abcd4	T	C	12: 84,615,100	T84A	probably benign	Het
Adgra1	T	A	7: 139,874,031	Y161*	probably null	Het
Aldoart1	G	T	4: 72,851,936	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,243,376	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,486,516	T131A	probably benign	Het
Baz1a	C	T	12: 54,898,508	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,316,811	V71A	probably benign	Het
C4b	T	A	17: 34,736,927	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,173,674	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,401	S786P	probably benign	Het
Cep135	A	G	5: 76,603,195	E296G	possibly damaging	Het
Chml	G	A	1: 175,687,878	T159I	probably benign	Het
Cntn3	C	T	6: 102,269,205	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,373,063	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,082,198	K275R	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dbx2	T	C	15: 95,624,734	E364G	probably benign	Het
Dcaf13	A	T	15: 39,130,238	N242I	probably damaging	Het
Dcc	A	G	18: 71,446,399	V701A	probably benign	Het
Fastkd5	A	T	2: 130,614,280	Y797N	probably damaging	Het
Fat4	T	A	3: 39,010,268	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,011,888	I45V	possibly damaging	Het
Gng4	A	G	13: 13,825,266	D40G	probably damaging	Het
Gns	A	G	10: 121,378,047	D209G	probably benign	Het
Kif6	C	A	17: 49,903,649	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,473,875	V569M	possibly damaging	Het
Krt2	A	G	15: 101,811,154	S694P	unknown	Het
Lrrc8c	A	G	5: 105,606,737	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,912	V62A	probably benign	Het
Map1b	T	C	13: 99,430,493	R1907G	unknown	Het
Mertk	A	G	2: 128,750,174	I273V	probably benign	Het
Mfsd4b1	A	G	10: 40,003,227	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,338,793	V684A	probably damaging	Het
Msh6	G	A	17: 87,980,223	W97*	probably null	Het
Mtmr10	A	G	7: 64,336,721	I516V	possibly damaging	Het
Myo7a	A	T	7: 98,112,606		probably benign	Het
Ndufs5	T	C	4: 123,712,868	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,160,153	V1035I	probably benign	Het
Olfr1148	A	G	2: 87,833,299	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,479,180	G398W	probably damaging	Het
Plpbp	T	A	8: 27,053,298	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,534,634	F769I	possibly damaging	Het
Polk	A	G	13: 96,495,442	V261A	probably damaging	Het
Prss52	C	T	14: 64,113,633	A289V	probably damaging	Het
Puf60	T	C	15: 76,070,874	K407E	probably benign	Het
Pzp	T	C	6: 128,485,617	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,217,301	N1054S	probably benign	Het
Sdk2	A	G	11: 113,793,741	S1965P	probably benign	Het
Spryd7	T	C	14: 61,540,205	Y142C	probably damaging	Het
Srrt	A	T	5: 137,299,860		probably benign	Het
Stk10	A	G	11: 32,622,464	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,737,971	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681		probably benign	Het
Trim29	A	T	9: 43,332,376	Q564L	probably damaging	Het
Trim5	T	C	7: 104,276,661	D231G	probably damaging	Het
Trpv2	A	G	11: 62,596,961	K676E	probably benign	Het
Ttn	T	C	2: 76,753,515	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,201,438	I268V	probably benign	Het
Ugt8a	T	C	3: 125,874,203	N330D	probably benign	Het
Utrn	G	A	10: 12,475,296	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,835,521	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,268,298	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,709,140	W296R	probably damaging	Het
Zfp11	G	A	5: 129,657,758	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,579,631	F193I	probably damaging	Het
Zfp764	G	A	7: 127,405,567	Q131*	probably null	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
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
R0620:Ntrk2	UTSW	13	58846821	missense	probably benign
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	intron	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

Predicted Primers

PCR Primer
(F):5'- GAGCAGAGTCAAGTAAGCTGTTCCC -3'
(R):5'- CCATGAAGTGAGCGGAGATCTGTC -3'

Sequencing Primer
(F):5'- TGGGCCAGTCATATCATGC -3'
(R):5'- GAGCGGAGATCTGTCTCTCATC -3'

Posted On

2014-05-23