Incidental Mutation 'R2091:Ntrk2'
| ID |
231791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntrk2
|
| Ensembl Gene |
ENSMUSG00000055254 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 2 |
| Synonyms |
trkB, Tkrb, C030027L06Rik |
| MMRRC Submission |
040096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R2091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
58954383-59281784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59007115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 239
(H239R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079828]
[ENSMUST00000109838]
[ENSMUST00000224259]
[ENSMUST00000224402]
[ENSMUST00000225488]
[ENSMUST00000225583]
[ENSMUST00000225950]
|
| AlphaFold |
P15209 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079828
AA Change: H239R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000078757
Gene: ENSMUSG00000055254
AA Change: H239R
| 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 |
possibly damaging
Transcript: ENSMUST00000109838
AA Change: H239R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105464
Gene: ENSMUSG00000055254
AA Change: H239R
| 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 |
1.1e-8 |
PFAM |
|
Pfam:Ig_2
|
300 |
377 |
5.4e-4 |
PFAM |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224259
AA Change: H239R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224402
AA Change: H239R
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225488
AA Change: H239R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225583
AA Change: H239R
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225950
AA Change: H239R
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1944 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (50/51) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
probably null |
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 |
|
|
IGL02465:Ntrk2
|
APN |
13 |
59,208,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGACTGTAACTGTTTGTGTGC -3'
(R):5'- TAGGCACATAAAATATTGGGTGGC -3'
Sequencing Primer
(F):5'- CGACTGTAACTGTTTGTGTGCATTTC -3'
(R):5'- ACTTGACAATGTAGGGTCACC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation