Mutagenetix > Incidental Mutation

Incidental Mutation 'R1152:Ntrk1'

101616

Institutional Source

Beutler Lab

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

MMRRC Submission

039225-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1152 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

87685551-87702469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87685900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 741 (E741K)

Ref Sequence

ENSEMBL: ENSMUSP00000029712 (fasta)

Gene Model

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

AlphaFold

Q3UFB7

Predicted Effect

probably benign
Transcript: ENSMUST00000029712
AA Change: E741K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: E741K

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: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Arhgap28	C	A	17: 68,164,459 (GRCm39)	Q554H	probably damaging	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,332,981 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Prps1	T	G	X: 139,369,656 (GRCm39)	S160A	probably benign	Het
Spopfm1	A	G	3: 94,173,102 (GRCm39)	M37V	probably benign	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	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
R1144:Ntrk1	UTSW	3	87,688,849 (GRCm39)	missense	probably damaging	1.00
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