Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Ntrk1'

102239

Institutional Source

Beutler Lab

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87685551-87702469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87688849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 568 (T568I)

Ref Sequence

ENSEMBL: ENSMUSP00000029712 (fasta)

Gene Model

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

AlphaFold

Q3UFB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029712
AA Change: T568I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: T568I

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

0.6102

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Ntrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ntrk1	APN	3	87,698,745 (GRCm39)	missense	possibly damaging	0.94
IGL00756:Ntrk1	APN	3	87,691,004 (GRCm39)	missense	probably benign	0.05
IGL01340:Ntrk1	APN	3	87,696,021 (GRCm39)	missense	possibly damaging	0.72
IGL02262:Ntrk1	APN	3	87,689,104 (GRCm39)	missense	probably damaging	1.00
IGL02268:Ntrk1	APN	3	87,688,838 (GRCm39)	missense	probably damaging	1.00
IGL02290:Ntrk1	APN	3	87,689,078 (GRCm39)	missense	probably benign	0.11
IGL02435:Ntrk1	APN	3	87,696,039 (GRCm39)	missense	probably benign	0.01
IGL03007:Ntrk1	APN	3	87,690,050 (GRCm39)	missense	possibly damaging	0.56
PIT4802001:Ntrk1	UTSW	3	87,695,941 (GRCm39)	missense	probably damaging	0.98
R0015:Ntrk1	UTSW	3	87,699,057 (GRCm39)	intron	probably benign
R0140:Ntrk1	UTSW	3	87,685,875 (GRCm39)	missense	probably damaging	1.00
R0269:Ntrk1	UTSW	3	87,691,240 (GRCm39)	missense	possibly damaging	0.78
R0457:Ntrk1	UTSW	3	87,699,014 (GRCm39)	missense	probably benign
R0617:Ntrk1	UTSW	3	87,691,240 (GRCm39)	missense	possibly damaging	0.78
R1152:Ntrk1	UTSW	3	87,685,900 (GRCm39)	missense	probably benign	0.33
R1439:Ntrk1	UTSW	3	87,696,918 (GRCm39)	splice site	probably null
R1588:Ntrk1	UTSW	3	87,687,384 (GRCm39)	nonsense	probably null
R1764:Ntrk1	UTSW	3	87,687,391 (GRCm39)	missense	probably damaging	0.99
R1766:Ntrk1	UTSW	3	87,685,825 (GRCm39)	missense	probably damaging	1.00
R1771:Ntrk1	UTSW	3	87,696,937 (GRCm39)	missense	probably benign
R2264:Ntrk1	UTSW	3	87,686,941 (GRCm39)	critical splice donor site	probably null
R2377:Ntrk1	UTSW	3	87,698,714 (GRCm39)	missense	possibly damaging	0.70
R4059:Ntrk1	UTSW	3	87,688,786 (GRCm39)	missense	probably damaging	1.00
R4950:Ntrk1	UTSW	3	87,696,918 (GRCm39)	splice site	probably null
R5107:Ntrk1	UTSW	3	87,702,280 (GRCm39)	missense	probably benign	0.01
R5805:Ntrk1	UTSW	3	87,687,479 (GRCm39)	missense	probably damaging	1.00
R6073:Ntrk1	UTSW	3	87,698,677 (GRCm39)	splice site	probably null
R6372:Ntrk1	UTSW	3	87,693,355 (GRCm39)	missense	probably benign
R6894:Ntrk1	UTSW	3	87,690,109 (GRCm39)	missense	probably damaging	1.00
R6972:Ntrk1	UTSW	3	87,691,288 (GRCm39)	missense	probably damaging	1.00
R6973:Ntrk1	UTSW	3	87,691,288 (GRCm39)	missense	probably damaging	1.00
R7309:Ntrk1	UTSW	3	87,702,384 (GRCm39)	missense	probably benign	0.00
R7693:Ntrk1	UTSW	3	87,695,733 (GRCm39)	missense	probably benign
R7836:Ntrk1	UTSW	3	87,687,041 (GRCm39)	nonsense	probably null
R8311:Ntrk1	UTSW	3	87,688,870 (GRCm39)	missense	probably damaging	1.00
R8458:Ntrk1	UTSW	3	87,698,976 (GRCm39)	critical splice donor site	probably null
R8726:Ntrk1	UTSW	3	87,693,396 (GRCm39)	missense	probably benign	0.10
R8791:Ntrk1	UTSW	3	87,686,990 (GRCm39)	missense	probably damaging	1.00
R8796:Ntrk1	UTSW	3	87,690,422 (GRCm39)	missense	probably benign	0.00
R8936:Ntrk1	UTSW	3	87,693,366 (GRCm39)	missense	possibly damaging	0.64
R9234:Ntrk1	UTSW	3	87,695,622 (GRCm39)	critical splice donor site	probably null
R9324:Ntrk1	UTSW	3	87,698,745 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

Posted On

2014-01-15