Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Ntrk1'

381904

Institutional Source

Beutler Lab

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4950 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

87778244-87795162 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 87789611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029712] [ENSMUST00000029714] [ENSMUST00000090981]

AlphaFold

Q3UFB7

Predicted Effect

probably null
Transcript: ENSMUST00000029712

SMART Domains

Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:LRR_8	91	150	8.9e-14	PFAM
Pfam:TPKR_C2	151	194	4.9e-15	PFAM
IG	202	285	3.2e-2	SMART
low complexity region	419	442	N/A	INTRINSIC
TyrKc	513	784	2.31e-142	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029714

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090981

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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 kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Ntrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ntrk1	APN	3	87791438	missense	possibly damaging	0.94
IGL00756:Ntrk1	APN	3	87783697	missense	probably benign	0.05
IGL01340:Ntrk1	APN	3	87788714	missense	possibly damaging	0.72
IGL02262:Ntrk1	APN	3	87781797	missense	probably damaging	1.00
IGL02268:Ntrk1	APN	3	87781531	missense	probably damaging	1.00
IGL02290:Ntrk1	APN	3	87781771	missense	probably benign	0.11
IGL02435:Ntrk1	APN	3	87788732	missense	probably benign	0.01
IGL03007:Ntrk1	APN	3	87782743	missense	possibly damaging	0.56
PIT4802001:Ntrk1	UTSW	3	87788634	missense	probably damaging	0.98
R0015:Ntrk1	UTSW	3	87791750	intron	probably benign
R0140:Ntrk1	UTSW	3	87778568	missense	probably damaging	1.00
R0269:Ntrk1	UTSW	3	87783933	missense	possibly damaging	0.78
R0457:Ntrk1	UTSW	3	87791707	missense	probably benign
R0617:Ntrk1	UTSW	3	87783933	missense	possibly damaging	0.78
R1144:Ntrk1	UTSW	3	87781542	missense	probably damaging	1.00
R1152:Ntrk1	UTSW	3	87778593	missense	probably benign	0.33
R1439:Ntrk1	UTSW	3	87789611	splice site	probably null
R1588:Ntrk1	UTSW	3	87780077	nonsense	probably null
R1764:Ntrk1	UTSW	3	87780084	missense	probably damaging	0.99
R1766:Ntrk1	UTSW	3	87778518	missense	probably damaging	1.00
R1771:Ntrk1	UTSW	3	87789630	missense	probably benign
R2264:Ntrk1	UTSW	3	87779634	critical splice donor site	probably null
R2377:Ntrk1	UTSW	3	87791407	missense	possibly damaging	0.70
R4059:Ntrk1	UTSW	3	87781479	missense	probably damaging	1.00
R5107:Ntrk1	UTSW	3	87794973	missense	probably benign	0.01
R5805:Ntrk1	UTSW	3	87780172	missense	probably damaging	1.00
R6073:Ntrk1	UTSW	3	87791370	splice site	probably null
R6372:Ntrk1	UTSW	3	87786048	missense	probably benign
R6894:Ntrk1	UTSW	3	87782802	missense	probably damaging	1.00
R6972:Ntrk1	UTSW	3	87783981	missense	probably damaging	1.00
R6973:Ntrk1	UTSW	3	87783981	missense	probably damaging	1.00
R7309:Ntrk1	UTSW	3	87795077	missense	probably benign	0.00
R7693:Ntrk1	UTSW	3	87788426	missense	probably benign
R7836:Ntrk1	UTSW	3	87779734	nonsense	probably null
R8311:Ntrk1	UTSW	3	87781563	missense	probably damaging	1.00
R8458:Ntrk1	UTSW	3	87791669	critical splice donor site	probably null
R8726:Ntrk1	UTSW	3	87786089	missense	probably benign	0.10
R8791:Ntrk1	UTSW	3	87779683	missense	probably damaging	1.00
R8796:Ntrk1	UTSW	3	87783115	missense	probably benign	0.00
R8936:Ntrk1	UTSW	3	87786059	missense	possibly damaging	0.64
R9234:Ntrk1	UTSW	3	87788315	critical splice donor site	probably null
R9324:Ntrk1	UTSW	3	87791438	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TAGTCCTGCAGGCTCTACTTG -3'
(R):5'- CGTAGCACGATGTTCAAGTTGAC -3'

Sequencing Primer
(F):5'- GCTGACAGGCATGCACATAATTG -3'
(R):5'- CAAGTTGACTTGCCTGGGGAC -3'

Posted On

2016-04-27