Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Ntrk1'

706363

Institutional Source

Beutler Lab

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87685551-87702469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87698745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 99 (V99M)

Ref Sequence

ENSEMBL: ENSMUSP00000029712 (fasta)

Gene Model

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

AlphaFold

Q3UFB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029712
AA Change: V99M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: V99M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gp5	T	C	16: 30,127,808 (GRCm39)	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hipk4	A	G	7: 27,228,834 (GRCm39)	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,206,459 (GRCm39)	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,338,481 (GRCm39)	E407K	probably benign	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or5an1	A	G	19: 12,260,939 (GRCm39)	R176G	probably benign	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGATGAGAATCAGAACACCG -3'
(R):5'- TCGGGATCTGGAAATCCGATATG -3'

Sequencing Primer
(F):5'- CCGAAGCAGAAAGAAATGCCCTAAG -3'
(R):5'- TCTGGAAATCCGATATGGGAGAG -3'

Posted On

2022-04-18