Incidental Mutation 'IGL02465:Ntrk2'
| ID |
294567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ntrk2
|
| Ensembl Gene |
ENSMUSG00000055254 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 2 |
| Synonyms |
trkB, Tkrb, C030027L06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL02465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
58954383-59281784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59208194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 680
(N680S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079828]
[ENSMUST00000225488]
|
| AlphaFold |
P15209 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079828
AA Change: N680S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: N680S
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
31 |
65 |
1.74e-4 |
SMART |
|
LRRCT
|
148 |
195 |
8.56e-10 |
SMART |
|
IGc2
|
209 |
273 |
4.43e-5 |
SMART |
|
Pfam:I-set
|
298 |
377 |
1.2e-8 |
PFAM |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
TyrKc
|
537 |
806 |
2.48e-142 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225244
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225488
AA Change: N680S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Different lines of homozygous mice show varied abnormalities including innervation and neural defects, rod defects, impaired ovarian folliculogenesis, and reduced postnatal survival. 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 |
|---|
| Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
| Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
| Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,557,872 (GRCm39) |
D156G |
possibly damaging |
Het |
| Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,460,435 (GRCm39) |
Y417C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
| Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
| Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
| Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
| Or9a2 |
C |
T |
6: 41,748,490 (GRCm39) |
V248I |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
| Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
| Proser3 |
A |
T |
7: 30,242,958 (GRCm39) |
N206K |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
| Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
| Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
| Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
Het |
|
| Other mutations in Ntrk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01928:Ntrk2
|
APN |
13 |
58,994,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Ntrk2
|
APN |
13 |
58,994,670 (GRCm39) |
critical splice donor site |
probably null |
|
|
Brainy
|
UTSW |
13 |
59,274,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Ntrk2
|
UTSW |
13 |
59,208,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Ntrk2
|
UTSW |
13 |
58,956,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Ntrk2
|
UTSW |
13 |
59,022,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0615:Ntrk2
|
UTSW |
13 |
59,276,000 (GRCm39) |
nonsense |
probably null |
|
|
R0620:Ntrk2
|
UTSW |
13 |
58,994,635 (GRCm39) |
missense |
probably benign |
|
|
R1770:Ntrk2
|
UTSW |
13 |
59,009,132 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2063:Ntrk2
|
UTSW |
13 |
59,007,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Ntrk2
|
UTSW |
13 |
59,007,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2091:Ntrk2
|
UTSW |
13 |
59,007,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2091:Ntrk2
|
UTSW |
13 |
59,007,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2178:Ntrk2
|
UTSW |
13 |
58,956,616 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2275:Ntrk2
|
UTSW |
13 |
59,009,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2370:Ntrk2
|
UTSW |
13 |
59,202,248 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2413:Ntrk2
|
UTSW |
13 |
59,022,226 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2520:Ntrk2
|
UTSW |
13 |
59,202,090 (GRCm39) |
splice site |
probably null |
|
|
R2926:Ntrk2
|
UTSW |
13 |
59,208,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Ntrk2
|
UTSW |
13 |
59,008,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Ntrk2
|
UTSW |
13 |
59,007,960 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4348:Ntrk2
|
UTSW |
13 |
59,026,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Ntrk2
|
UTSW |
13 |
59,208,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Ntrk2
|
UTSW |
13 |
59,274,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Ntrk2
|
UTSW |
13 |
59,274,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5356:Ntrk2
|
UTSW |
13 |
59,208,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Ntrk2
|
UTSW |
13 |
59,019,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5750:Ntrk2
|
UTSW |
13 |
58,956,736 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5916:Ntrk2
|
UTSW |
13 |
58,956,543 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5972:Ntrk2
|
UTSW |
13 |
58,985,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Ntrk2
|
UTSW |
13 |
59,208,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Ntrk2
|
UTSW |
13 |
59,019,570 (GRCm39) |
nonsense |
probably null |
|
|
R6419:Ntrk2
|
UTSW |
13 |
59,009,113 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Ntrk2
|
UTSW |
13 |
59,009,170 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6611:Ntrk2
|
UTSW |
13 |
59,202,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Ntrk2
|
UTSW |
13 |
59,274,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Ntrk2
|
UTSW |
13 |
59,007,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Ntrk2
|
UTSW |
13 |
59,133,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Ntrk2
|
UTSW |
13 |
58,994,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7561:Ntrk2
|
UTSW |
13 |
59,009,202 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8031:Ntrk2
|
UTSW |
13 |
59,022,193 (GRCm39) |
missense |
probably benign |
|
|
R8044:Ntrk2
|
UTSW |
13 |
59,274,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Ntrk2
|
UTSW |
13 |
59,133,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Ntrk2
|
UTSW |
13 |
59,208,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Ntrk2
|
UTSW |
13 |
59,007,988 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Ntrk2
|
UTSW |
13 |
59,276,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ntrk2
|
UTSW |
13 |
59,022,147 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ntrk2
|
UTSW |
13 |
59,007,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation