Incidental Mutation 'R6372:Ntrk1'
| ID |
513563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntrk1
|
| Ensembl Gene |
ENSMUSG00000028072 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
| Synonyms |
Tkr, TrkA |
| MMRRC Submission |
044522-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87693355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 259
(D259G)
|
| 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: D259G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: D259G
| 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 |
0.0836 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,162,273 (GRCm39) |
H696R |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
| Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,696,882 (GRCm39) |
V917A |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
| Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
| Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
| Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
| Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
| Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
| Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
| Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
| Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
| Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,322,566 (GRCm39) |
V112A |
probably damaging |
Het |
| Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
| Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
| Taf4b |
T |
G |
18: 14,937,790 (GRCm39) |
V258G |
probably damaging |
Het |
| Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
| Tnk2 |
T |
A |
16: 32,498,603 (GRCm39) |
W639R |
probably damaging |
Het |
| Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
| Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
| Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
| Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
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 |
|
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 |
|
|
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'- GGTTTTCATGGGAATCTGGAAAC -3'
(R):5'- CAAAGGAGGCCATTCTCTGC -3'
Sequencing Primer
(F):5'- AGCTGTAGAGACGCCCACTC -3'
(R):5'- AGGCCATTCTCTGCCTGCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation