Incidental Mutation 'R4059:Ntrk1'
ID |
314371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntrk1
|
Ensembl Gene |
ENSMUSG00000028072 |
Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
Synonyms |
Tkr, TrkA |
MMRRC Submission |
040970-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4059 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87688786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 589
(L589P)
|
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: L589P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029712 Gene: ENSMUSG00000028072 AA Change: L589P
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 |
0.9015 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (54/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
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 |
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 |
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'- CTCCTGTAGCTGAGTCCTATAGAC -3'
(R):5'- ACCACCATCATGTCAGGATG -3'
Sequencing Primer
(F):5'- GACAGTGCACATGAACCTTTG -3'
(R):5'- CATCATGTCAGGATGGGGATAG -3'
|
Posted On |
2015-04-30 |