Incidental Mutation 'R6073:Ntrk1'
ID |
512256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntrk1
|
Ensembl Gene |
ENSMUSG00000028072 |
Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
Synonyms |
Tkr, TrkA |
MMRRC Submission |
044234-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6073 (G1)
|
Quality Score |
23.0285 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 87698677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029712]
[ENSMUST00000029714]
[ENSMUST00000090981]
|
AlphaFold |
Q3UFB7 |
Predicted Effect |
probably null
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (57/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
A |
T |
18: 62,312,537 (GRCm39) |
M96K |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,143,668 (GRCm39) |
|
probably null |
Het |
Bnip5 |
A |
T |
17: 29,123,597 (GRCm39) |
V367D |
probably damaging |
Het |
C3 |
C |
T |
17: 57,513,223 (GRCm39) |
G183R |
probably null |
Het |
Cad |
A |
G |
5: 31,219,906 (GRCm39) |
T753A |
possibly damaging |
Het |
Cc2d2a |
C |
T |
5: 43,887,317 (GRCm39) |
T1249M |
probably damaging |
Het |
Cd74 |
G |
A |
18: 60,944,558 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
G |
5: 86,206,012 (GRCm39) |
|
probably null |
Het |
Cenpe |
T |
A |
3: 134,965,834 (GRCm39) |
L2104* |
probably null |
Het |
Cttnbp2 |
A |
G |
6: 18,434,232 (GRCm39) |
I542T |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,448,368 (GRCm39) |
D97G |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,896,274 (GRCm39) |
D3546G |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epb41l2 |
T |
G |
10: 25,377,730 (GRCm39) |
H597Q |
probably damaging |
Het |
Erbin |
G |
A |
13: 103,981,429 (GRCm39) |
Q499* |
probably null |
Het |
Erc2 |
A |
T |
14: 27,733,593 (GRCm39) |
I556F |
probably benign |
Het |
Fscn2 |
G |
T |
11: 120,252,613 (GRCm39) |
E27* |
probably null |
Het |
Fsd1l |
A |
G |
4: 53,679,994 (GRCm39) |
T231A |
probably damaging |
Het |
G6pc1 |
T |
A |
11: 101,258,802 (GRCm39) |
N60K |
probably benign |
Het |
Gm43302 |
A |
G |
5: 105,438,825 (GRCm39) |
V21A |
probably damaging |
Het |
Heatr3 |
G |
T |
8: 88,864,768 (GRCm39) |
A41S |
probably benign |
Het |
Hrct1 |
T |
C |
4: 43,727,543 (GRCm39) |
|
probably benign |
Het |
Ihh |
T |
C |
1: 74,990,438 (GRCm39) |
|
probably benign |
Het |
Jph3 |
A |
T |
8: 122,480,291 (GRCm39) |
Y323F |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,229,096 (GRCm39) |
D34G |
probably damaging |
Het |
Magi2 |
G |
A |
5: 20,774,286 (GRCm39) |
E231K |
probably damaging |
Het |
Muc5b |
A |
C |
7: 141,412,025 (GRCm39) |
Y1657S |
unknown |
Het |
Muc5b |
G |
A |
7: 141,402,797 (GRCm39) |
C667Y |
unknown |
Het |
Myo10 |
G |
A |
15: 25,736,728 (GRCm39) |
C459Y |
probably damaging |
Het |
Nemp1 |
A |
G |
10: 127,525,112 (GRCm39) |
K40E |
probably benign |
Het |
Nipsnap1 |
T |
C |
11: 4,838,895 (GRCm39) |
F107S |
possibly damaging |
Het |
Pabpc1 |
A |
G |
15: 36,600,895 (GRCm39) |
I305T |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,145,716 (GRCm39) |
F2736S |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,250 (GRCm39) |
Y450C |
probably null |
Het |
Polr2g |
A |
T |
19: 8,774,673 (GRCm39) |
V70E |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,838 (GRCm39) |
I202V |
probably damaging |
Het |
Prpf8 |
T |
C |
11: 75,384,848 (GRCm39) |
|
probably null |
Het |
Rfxap |
T |
C |
3: 54,714,708 (GRCm39) |
Y130C |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,949,861 (GRCm39) |
E20G |
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,871,772 (GRCm39) |
D389G |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,303,101 (GRCm39) |
H496R |
probably damaging |
Het |
Spast |
G |
A |
17: 74,680,300 (GRCm39) |
V420M |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,987,470 (GRCm39) |
T876I |
probably damaging |
Het |
Spata31d1a |
T |
A |
13: 59,850,808 (GRCm39) |
N440I |
probably damaging |
Het |
Tdrd1 |
G |
T |
19: 56,831,655 (GRCm39) |
E349* |
probably null |
Het |
Tie1 |
A |
G |
4: 118,339,587 (GRCm39) |
V398A |
probably benign |
Het |
Tmem255b |
T |
A |
8: 13,506,958 (GRCm39) |
L229Q |
probably damaging |
Het |
Tmem59 |
T |
A |
4: 107,050,598 (GRCm39) |
|
probably null |
Het |
Trim3 |
G |
A |
7: 105,266,746 (GRCm39) |
R479C |
probably damaging |
Het |
Ucp2 |
G |
A |
7: 100,147,338 (GRCm39) |
V131M |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,220,505 (GRCm39) |
D29G |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,184 (GRCm39) |
K343R |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,207,019 (GRCm39) |
K1085E |
possibly damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp963 |
A |
T |
8: 70,195,853 (GRCm39) |
C86* |
probably null |
Het |
Zfp977 |
A |
G |
7: 42,230,165 (GRCm39) |
I120T |
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 |
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'- CTTGTGAGAAGTGTCCCTGAGG -3'
(R):5'- GTTTGAGGGGTCCAGGTAAC -3'
|
Posted On |
2018-04-12 |