Incidental Mutation 'R7309:Ntrk1'
ID |
567432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntrk1
|
Ensembl Gene |
ENSMUSG00000028072 |
Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
Synonyms |
Tkr, TrkA |
MMRRC Submission |
045408-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7309 (G1)
|
Quality Score |
170.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87702384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 23
(M23K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029711]
[ENSMUST00000029712]
[ENSMUST00000029714]
[ENSMUST00000090981]
[ENSMUST00000107582]
|
AlphaFold |
Q3UFB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029711
|
SMART Domains |
Protein: ENSMUSP00000029711 Gene: ENSMUSG00000005640
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Recep_L_domain
|
47 |
159 |
1.8e-25 |
PFAM |
FU
|
225 |
268 |
9.54e-11 |
SMART |
Pfam:Recep_L_domain
|
346 |
460 |
3.8e-28 |
PFAM |
FN3
|
483 |
586 |
9.19e-1 |
SMART |
FN3
|
605 |
798 |
6.45e-5 |
SMART |
FN3
|
816 |
899 |
6.35e-4 |
SMART |
TyrKc
|
979 |
1246 |
4.61e-128 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029712
AA Change: M23K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029712 Gene: ENSMUSG00000028072 AA Change: M23K
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107582
|
SMART Domains |
Protein: ENSMUSP00000103208 Gene: ENSMUSG00000005640
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Recep_L_domain
|
47 |
159 |
7.7e-25 |
PFAM |
FU
|
225 |
268 |
9.54e-11 |
SMART |
Pfam:Recep_L_domain
|
346 |
460 |
1.6e-28 |
PFAM |
FN3
|
483 |
586 |
9.19e-1 |
SMART |
FN3
|
605 |
798 |
6.45e-5 |
SMART |
FN3
|
816 |
899 |
6.35e-4 |
SMART |
TyrKc
|
979 |
1246 |
4.61e-128 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
94% (47/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
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 |
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 |
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'- AGTCTCCTACAGCAGCCAAG -3'
(R):5'- GTGGCTAGTCTTTAACACCGC -3'
Sequencing Primer
(F):5'- GTGAATGAGTGCGCGCC -3'
(R):5'- TAGTCTTTAACACCGCCCCGC -3'
|
Posted On |
2019-06-26 |