Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Ntrk1'

262079

Institutional Source

Beutler Lab

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87685551-87702469 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 87699057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088503 (fasta)

Gene Model

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

AlphaFold

Q3UFB7

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Aldh6a1	G	A	12: 84,488,554 (GRCm39)	L86F	probably damaging	Het
Arl10	G	T	13: 54,723,770 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,480,556 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,223,609 (GRCm39)	T188A	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gls2	T	G	10: 128,045,219 (GRCm39)	L572R	probably damaging	Het
Gm20939	A	T	17: 95,184,196 (GRCm39)	E281D	probably benign	Het
Gpr35	T	G	1: 92,910,954 (GRCm39)	L222W	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Id2	C	T	12: 25,145,802 (GRCm39)	D70N	probably damaging	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,230,743 (GRCm39)	T203A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lifr	T	A	15: 7,217,667 (GRCm39)		probably null	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Lypd1	A	G	1: 125,838,175 (GRCm39)	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,063 (GRCm39)	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,396,154 (GRCm39)	D93V	probably benign	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Olfm2	T	C	9: 20,580,037 (GRCm39)	E268G	probably damaging	Het
Or8b37	T	A	9: 37,958,963 (GRCm39)	Y148*	probably null	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pde9a	G	A	17: 31,605,330 (GRCm39)		probably null	Het
Pianp	G	T	6: 124,978,503 (GRCm39)	G236V	probably damaging	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,660 (GRCm39)	S1085P	possibly damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Rnf213	A	C	11: 119,332,432 (GRCm39)	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Stab2	A	G	10: 86,679,481 (GRCm39)	S2503P	probably benign	Het
Sv2b	A	T	7: 74,775,389 (GRCm39)	F479L	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tead3	T	C	17: 28,560,325 (GRCm39)	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,612,284 (GRCm39)	N307K	probably damaging	Het
Ubxn11	C	G	4: 133,843,336 (GRCm39)		probably null	Het
Ust	T	C	10: 8,205,829 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,620,823 (GRCm39)	N852K	probably benign	Het
Zgrf1	T	C	3: 127,349,046 (GRCm39)		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
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
R1144:Ntrk1	UTSW	3	87,688,849 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- TGGGCACCCCTCTCCATAAGTTAC -3'
(R):5'- TGAGGACACCCCTGTGTGTTTCTG -3'

Sequencing Primer
(F):5'- CATAAGTTACCTGGACCCCTC -3'
(R):5'- AGTCATGTCAGCATGTGGG -3'

Posted On

2015-02-04