Incidental Mutation 'IGL02262:Ntrk1'
| ID |
286780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ntrk1
|
| Ensembl Gene |
ENSMUSG00000028072 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
| Synonyms |
Tkr, TrkA |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02262
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87689104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 529
(L529F)
|
| 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: L529F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: L529F
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
T |
10: 14,317,140 (GRCm39) |
A560E |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,013 (GRCm39) |
M311K |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,800,184 (GRCm39) |
V1281G |
probably damaging |
Het |
| Cacna1s |
C |
T |
1: 136,035,867 (GRCm39) |
T1388I |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,102 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,656,414 (GRCm39) |
G1585S |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,643,378 (GRCm39) |
V1266I |
probably benign |
Het |
| Epc1 |
A |
G |
18: 6,437,278 (GRCm39) |
L750P |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,961,490 (GRCm39) |
M1108K |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,637,805 (GRCm39) |
I293T |
probably damaging |
Het |
| Gm21759 |
T |
C |
5: 8,230,747 (GRCm39) |
|
probably benign |
Het |
| Igkv3-10 |
A |
T |
6: 70,550,154 (GRCm39) |
D100V |
possibly damaging |
Het |
| Ipo13 |
A |
C |
4: 117,761,010 (GRCm39) |
I569M |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,743,633 (GRCm39) |
Y1243C |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,510 (GRCm39) |
E489G |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,872,826 (GRCm39) |
V895E |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,636 (GRCm39) |
V331A |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,359 (GRCm39) |
C6882S |
possibly damaging |
Het |
| Or14j5 |
A |
C |
17: 38,162,154 (GRCm39) |
T224P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,801,645 (GRCm39) |
L346F |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,458,496 (GRCm39) |
S396P |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,281,470 (GRCm39) |
E797G |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 52,055,065 (GRCm39) |
D79A |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,487,499 (GRCm39) |
V612I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,422 (GRCm39) |
V568A |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,729,636 (GRCm39) |
F472L |
probably damaging |
Het |
| Trim30b |
C |
T |
7: 104,015,107 (GRCm39) |
V94M |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,186 (GRCm39) |
S445T |
unknown |
Het |
| Zfp541 |
A |
G |
7: 15,813,620 (GRCm39) |
K758E |
probably 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 |
|
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 |
|
|
R9324:Ntrk1
|
UTSW |
3 |
87,698,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation