Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Ntrk2'

254405

Institutional Source

Beutler Lab

Gene Symbol

Ntrk2

Ensembl Gene

ENSMUSG00000055254

Gene Name

neurotrophic tyrosine kinase, receptor, type 2

Synonyms

trkB, Tkrb, C030027L06Rik

MMRRC Submission

040424-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58954383-59281784 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 59202090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079828] [ENSMUST00000225488]

AlphaFold

P15209

Predicted Effect

probably null
Transcript: ENSMUST00000079828

SMART Domains

Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254

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

noncoding transcript
Transcript: ENSMUST00000225244

Predicted Effect

probably null
Transcript: ENSMUST00000225488

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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. 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Arsb	A	T	13: 94,077,207 (GRCm39)	K525*	probably null	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Cers5	G	A	15: 99,634,262 (GRCm39)	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Csf3r	A	T	4: 125,929,145 (GRCm39)	T352S	probably benign	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tbc1d10b	A	G	7: 126,799,455 (GRCm39)		probably null	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	possibly damaging	Het

Other mutations in Ntrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Ntrk2	APN	13	58,994,665 (GRCm39)	missense	probably damaging	1.00
IGL02331:Ntrk2	APN	13	58,994,670 (GRCm39)	critical splice donor site	probably null
IGL02465:Ntrk2	APN	13	59,208,194 (GRCm39)	missense	probably damaging	1.00
Brainy	UTSW	13	59,274,382 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Ntrk2	UTSW	13	59,208,149 (GRCm39)	missense	probably damaging	1.00
R0102:Ntrk2	UTSW	13	58,956,607 (GRCm39)	missense	probably benign	0.00
R0547:Ntrk2	UTSW	13	59,022,184 (GRCm39)	missense	probably damaging	0.99
R0615:Ntrk2	UTSW	13	59,276,000 (GRCm39)	nonsense	probably null
R0620:Ntrk2	UTSW	13	58,994,635 (GRCm39)	missense	probably benign
R1770:Ntrk2	UTSW	13	59,009,132 (GRCm39)	missense	possibly damaging	0.67
R2063:Ntrk2	UTSW	13	59,007,111 (GRCm39)	missense	probably damaging	1.00
R2089:Ntrk2	UTSW	13	59,007,115 (GRCm39)	missense	possibly damaging	0.95
R2091:Ntrk2	UTSW	13	59,007,115 (GRCm39)	missense	possibly damaging	0.95
R2091:Ntrk2	UTSW	13	59,007,115 (GRCm39)	missense	possibly damaging	0.95
R2178:Ntrk2	UTSW	13	58,956,616 (GRCm39)	missense	probably benign	0.06
R2275:Ntrk2	UTSW	13	59,009,165 (GRCm39)	missense	probably damaging	1.00
R2370:Ntrk2	UTSW	13	59,202,248 (GRCm39)	missense	probably benign	0.28
R2413:Ntrk2	UTSW	13	59,022,226 (GRCm39)	missense	possibly damaging	0.56
R2926:Ntrk2	UTSW	13	59,208,098 (GRCm39)	missense	probably damaging	1.00
R4163:Ntrk2	UTSW	13	59,008,054 (GRCm39)	missense	probably damaging	1.00
R4320:Ntrk2	UTSW	13	59,007,960 (GRCm39)	missense	possibly damaging	0.48
R4348:Ntrk2	UTSW	13	59,026,073 (GRCm39)	missense	probably damaging	1.00
R4440:Ntrk2	UTSW	13	59,208,126 (GRCm39)	missense	probably damaging	1.00
R4534:Ntrk2	UTSW	13	59,274,343 (GRCm39)	missense	probably damaging	1.00
R4695:Ntrk2	UTSW	13	59,274,307 (GRCm39)	missense	probably damaging	0.99
R5356:Ntrk2	UTSW	13	59,208,056 (GRCm39)	missense	probably damaging	1.00
R5471:Ntrk2	UTSW	13	59,019,574 (GRCm39)	missense	probably benign	0.01
R5750:Ntrk2	UTSW	13	58,956,736 (GRCm39)	missense	probably benign	0.02
R5916:Ntrk2	UTSW	13	58,956,543 (GRCm39)	start codon destroyed	probably null	0.98
R5972:Ntrk2	UTSW	13	58,985,633 (GRCm39)	missense	probably damaging	1.00
R6015:Ntrk2	UTSW	13	59,208,209 (GRCm39)	missense	probably damaging	1.00
R6298:Ntrk2	UTSW	13	59,019,570 (GRCm39)	nonsense	probably null
R6419:Ntrk2	UTSW	13	59,009,113 (GRCm39)	nonsense	probably null
R6488:Ntrk2	UTSW	13	59,009,170 (GRCm39)	missense	possibly damaging	0.93
R6611:Ntrk2	UTSW	13	59,202,228 (GRCm39)	missense	probably damaging	1.00
R6827:Ntrk2	UTSW	13	59,274,382 (GRCm39)	missense	probably damaging	1.00
R6911:Ntrk2	UTSW	13	59,007,029 (GRCm39)	missense	probably damaging	1.00
R7387:Ntrk2	UTSW	13	59,133,793 (GRCm39)	missense	probably damaging	1.00
R7445:Ntrk2	UTSW	13	58,994,576 (GRCm39)	missense	probably benign	0.03
R7561:Ntrk2	UTSW	13	59,009,202 (GRCm39)	missense	probably benign	0.31
R8031:Ntrk2	UTSW	13	59,022,193 (GRCm39)	missense	probably benign
R8044:Ntrk2	UTSW	13	59,274,313 (GRCm39)	missense	probably damaging	1.00
R8422:Ntrk2	UTSW	13	59,133,715 (GRCm39)	missense	probably damaging	1.00
R8941:Ntrk2	UTSW	13	59,208,109 (GRCm39)	missense	probably damaging	1.00
R8990:Ntrk2	UTSW	13	59,007,988 (GRCm39)	nonsense	probably null
R9129:Ntrk2	UTSW	13	59,276,084 (GRCm39)	missense	probably benign	0.01
Z1176:Ntrk2	UTSW	13	59,022,147 (GRCm39)	missense	probably benign
Z1177:Ntrk2	UTSW	13	59,007,087 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCCAGACCTTTGTGTAC -3'
(R):5'- ACTAAGCTCAAGTTGGCTCCTC -3'

Sequencing Primer
(F):5'- CAGACCTTTGTGTACCCGTGAG -3'
(R):5'- GAACTTGTTGAGGTCCCCG -3'

Posted On

2014-12-04