Incidental Mutation 'R7693:Ntrk1'
| ID |
593484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntrk1
|
| Ensembl Gene |
ENSMUSG00000028072 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
| Synonyms |
Tkr, TrkA |
| MMRRC Submission |
045708-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87685551-87702469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87695733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 205
(D205G)
|
| 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: D205G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: D205G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
| Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
| Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
| Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
| Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
| Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
| Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
| Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
| Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
| Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
| Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
| Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
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 |
|
R7309:Ntrk1
|
UTSW |
3 |
87,702,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATGCCTGAGCCATCTCTGTC -3'
(R):5'- AGACGCTTCATGACTCTGGG -3'
Sequencing Primer
(F):5'- GAGCCATCTCTGTCCTTCCAG -3'
(R):5'- CTTCATGACTCTGGGCCTGGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation