Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Ntrk2'

693499

Institutional Source

Beutler Lab

Gene Symbol

Ntrk2

Ensembl Gene

ENSMUSG00000055254

Gene Name

neurotrophic tyrosine kinase, receptor, type 2

Synonyms

trkB, Tkrb, C030027L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58954383-59281784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59276084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 795 (T795A)

Ref Sequence

ENSEMBL: ENSMUSP00000078757 (fasta)

Gene Model

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

AlphaFold

P15209

Predicted Effect

probably benign
Transcript: ENSMUST00000079828
AA Change: T795A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: T795A

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: ENSMUST00000225488
AA Change: T795A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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
A2ml1	A	G	6: 128,523,223 (GRCm39)	S1238P	probably damaging	Het
Akap9	T	C	5: 4,119,089 (GRCm39)	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,312,042 (GRCm39)	L701P		Het
Aph1b	A	C	9: 66,686,595 (GRCm39)	I225S	probably benign	Het
Asic4	A	T	1: 75,446,469 (GRCm39)	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Atp9a	A	G	2: 168,517,205 (GRCm39)	M376T	probably benign	Het
Bod1l	G	T	5: 41,976,220 (GRCm39)	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,313,415 (GRCm39)		probably null	Het
Catsper1	C	A	19: 5,390,402 (GRCm39)		probably benign	Het
Cd248	T	C	19: 5,120,140 (GRCm39)	S663P	probably benign	Het
Crispld2	A	T	8: 120,737,488 (GRCm39)	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,726,659 (GRCm39)	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,014,136 (GRCm39)	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,381,189 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,377,126 (GRCm39)	V1637D	probably benign	Het
Elovl1	A	T	4: 118,289,156 (GRCm39)	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,300,946 (GRCm39)	K483E	probably benign	Het
Fzd2	T	C	11: 102,496,465 (GRCm39)	F303S	probably benign	Het
Gm9944	A	T	4: 144,179,763 (GRCm39)	V42D	unknown	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hinfp	C	T	9: 44,209,062 (GRCm39)	R352H	probably damaging	Het
Hrnr	A	G	3: 93,231,277 (GRCm39)	H505R	unknown	Het
Hsfy2	C	T	1: 56,675,752 (GRCm39)	D262N	probably benign	Het
Hspa4	G	A	11: 53,174,463 (GRCm39)	Q186*	probably null	Het
Ipo8	T	C	6: 148,700,125 (GRCm39)	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,284,636 (GRCm39)	R54*	probably null	Het
Lama4	T	A	10: 38,932,887 (GRCm39)	Y588N	probably benign	Het
Lekr1	T	A	3: 65,591,426 (GRCm39)	Y54*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lypd10	A	G	7: 24,413,170 (GRCm39)	D163G	probably benign	Het
Lzts3	A	T	2: 130,476,865 (GRCm39)	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812 (GRCm39)	V628E	probably benign	Het
Mgat5b	A	C	11: 116,859,348 (GRCm39)		probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,167,404 (GRCm39)	S443L	probably benign	Het
Mtf1	G	A	4: 124,698,913 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,154,068 (GRCm39)	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,077,428 (GRCm39)		probably null	Het
Nog	G	C	11: 89,192,602 (GRCm39)	S82W	probably damaging	Het
Or4a78	A	G	2: 89,497,930 (GRCm39)	F100S	probably damaging	Het
Or56a3b	G	A	7: 104,771,223 (GRCm39)	M186I	probably benign	Het
Or5m3	A	T	2: 85,838,356 (GRCm39)	M79L		Het
Or5w17	A	T	2: 87,584,048 (GRCm39)	F96L	probably benign	Het
Pira12	C	A	7: 3,898,500 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,064 (GRCm39)	I144L		Het
Rab11fip5	A	G	6: 85,317,892 (GRCm39)	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 33,162,139 (GRCm39)		probably benign	Het
Shisa6	A	G	11: 66,110,853 (GRCm39)	M296T	probably benign	Het
Slc18a1	T	A	8: 69,491,533 (GRCm39)	T494S	probably benign	Het
Slc22a29	T	G	19: 8,146,669 (GRCm39)	I378L	probably benign	Het
Slc23a2	C	T	2: 131,920,332 (GRCm39)		probably null	Het
Slc2a7	G	T	4: 150,243,001 (GRCm39)	R274L	probably benign	Het
Spta1	A	G	1: 174,058,911 (GRCm39)	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,221,866 (GRCm39)	V3339A	unknown	Het
Tcp10a	G	A	17: 7,593,935 (GRCm39)	D87N	probably benign	Het
Tgm5	T	G	2: 120,877,270 (GRCm39)	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,014,265 (GRCm39)	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,185,208 (GRCm39)	M50L	probably benign	Het
Ush1c	A	G	7: 45,854,629 (GRCm39)	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,298,876 (GRCm39)	T9S	probably benign	Het
Vmn1r26	T	C	6: 57,985,373 (GRCm39)	Y272C		Het
Vmn1r75	G	T	7: 11,614,513 (GRCm39)	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,678,918 (GRCm39)	R769*	probably null	Het
Vps13b	C	A	15: 35,448,793 (GRCm39)	A589E	probably damaging	Het
Vps13d	G	A	4: 144,898,249 (GRCm39)	R304W		Het
Vps41	A	G	13: 19,011,775 (GRCm39)	E294G	probably benign	Het
Xpo7	T	C	14: 70,909,113 (GRCm39)	T802A	probably benign	Het
Ylpm1	T	A	12: 85,104,052 (GRCm39)	D2022E		Het
Zfp433	T	A	10: 81,555,724 (GRCm39)	C75*	probably null	Het
Zyg11a	A	T	4: 108,039,009 (GRCm39)	S737T	probably benign	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
R2520:Ntrk2	UTSW	13	59,202,090 (GRCm39)	splice site	probably null
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
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'- GTTAAAGAAAGGAGAGGCCCTTCC -3'
(R):5'- ACACTGTCAGAGCGAAGGAC -3'

Sequencing Primer
(F):5'- TCCCTCCTGCAGGCATGTG -3'
(R):5'- CAGCAAGGTCATGACGTCAGC -3'

Posted On

2022-01-20