Incidental Mutation 'R3108:Ntrk3'
| ID |
263662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntrk3
|
| Ensembl Gene |
ENSMUSG00000059146 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 3 |
| Synonyms |
TrkC |
| MMRRC Submission |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
78175959-78738012 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78460515 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 324
(V324M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039431]
[ENSMUST00000039438]
[ENSMUST00000193002]
[ENSMUST00000195262]
|
| AlphaFold |
Q6VNS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039431
AA Change: V324M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000037909
Gene: ENSMUSG00000059146
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
31 |
63 |
2.46e-4 |
SMART |
|
LRRCT
|
160 |
208 |
3.58e-12 |
SMART |
|
IG
|
216 |
302 |
1.24e-8 |
SMART |
|
Pfam:I-set
|
308 |
392 |
2.4e-8 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
TyrKc
|
538 |
810 |
1.49e-145 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039438
AA Change: V324M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000038324
Gene: ENSMUSG00000059146
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
31 |
63 |
2.46e-4 |
SMART |
|
LRRCT
|
160 |
208 |
3.58e-12 |
SMART |
|
IG
|
216 |
302 |
1.24e-8 |
SMART |
|
Pfam:I-set
|
308 |
392 |
3.1e-8 |
PFAM |
|
transmembrane domain
|
429 |
451 |
N/A |
INTRINSIC |
|
PDB:2MFQ|B
|
497 |
517 |
2e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193002
AA Change: V324M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141534
Gene: ENSMUSG00000059146
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
31 |
63 |
2.46e-4 |
SMART |
|
LRRCT
|
160 |
208 |
3.58e-12 |
SMART |
|
IG
|
216 |
302 |
1.24e-8 |
SMART |
|
Pfam:I-set
|
308 |
392 |
2.4e-8 |
PFAM |
|
Pfam:Ig_2
|
312 |
392 |
6.9e-4 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
TyrKc
|
538 |
824 |
4.29e-137 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195262
AA Change: V324M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141599
Gene: ENSMUSG00000059146
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
31 |
63 |
1.2e-6 |
SMART |
|
LRRCT
|
160 |
208 |
1.8e-14 |
SMART |
|
IG
|
216 |
302 |
5.1e-11 |
SMART |
|
Pfam:I-set
|
308 |
392 |
4.7e-7 |
PFAM |
|
Pfam:Ig_2
|
312 |
392 |
1.3e-2 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
TyrKc
|
538 |
849 |
9.7e-132 |
SMART |
|
| Meta Mutation Damage Score |
0.4497 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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 and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 79,323,585 |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,169,453 |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 127,056,306 |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,781,624 |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,994,683 |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 95,735,749 |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,920,035 |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,912,387 |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 141,292,282 |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,021,816 |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,312,989 |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,045,173 |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,913,871 |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,328 |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,858,759 |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,522,978 |
M227I |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,117,306 |
T210K |
probably null |
Het |
| Olfr466 |
T |
C |
13: 65,153,061 |
V279A |
possibly damaging |
Het |
| Olfr591 |
T |
A |
7: 103,173,086 |
M184L |
probably damaging |
Het |
| Pak4 |
A |
T |
7: 28,564,344 |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,493,386 |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 51,782,782 |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,853,841 |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,229,245 |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,126,721 |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,636,155 |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,592,066 |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 80,331,546 |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,489,996 |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,746,816 |
C676S |
probably damaging |
Het |
|
| Other mutations in Ntrk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Ntrk3
|
APN |
7 |
78250873 |
missense |
probably benign |
0.03 |
|
IGL00862:Ntrk3
|
APN |
7 |
78247177 |
missense |
probably damaging |
1.00 |
|
IGL00972:Ntrk3
|
APN |
7 |
78247322 |
missense |
possibly damaging |
0.95 |
|
IGL00976:Ntrk3
|
APN |
7 |
78450953 |
missense |
probably benign |
0.02 |
|
IGL02172:Ntrk3
|
APN |
7 |
78460272 |
splice site |
probably benign |
|
|
IGL02175:Ntrk3
|
APN |
7 |
78247228 |
missense |
probably damaging |
1.00 |
|
IGL02213:Ntrk3
|
APN |
7 |
78462931 |
missense |
probably benign |
0.17 |
|
IGL02363:Ntrk3
|
APN |
7 |
78453337 |
missense |
probably benign |
0.24 |
|
IGL02527:Ntrk3
|
APN |
7 |
78451949 |
missense |
probably benign |
|
|
IGL02673:Ntrk3
|
APN |
7 |
78250764 |
missense |
probably damaging |
1.00 |
|
IGL02755:Ntrk3
|
APN |
7 |
78460439 |
missense |
probably benign |
|
|
IGL02998:Ntrk3
|
APN |
7 |
78577657 |
missense |
probably damaging |
0.98 |
|
IGL03235:Ntrk3
|
APN |
7 |
78192592 |
missense |
probably damaging |
1.00 |
|
R1465:Ntrk3
|
UTSW |
7 |
78356014 |
splice site |
probably benign |
|
|
R1505:Ntrk3
|
UTSW |
7 |
78460524 |
missense |
probably damaging |
0.99 |
|
R1638:Ntrk3
|
UTSW |
7 |
78247288 |
missense |
probably damaging |
1.00 |
|
R1641:Ntrk3
|
UTSW |
7 |
78356074 |
missense |
probably damaging |
1.00 |
|
R1775:Ntrk3
|
UTSW |
7 |
78356041 |
missense |
possibly damaging |
0.60 |
|
R1786:Ntrk3
|
UTSW |
7 |
78477935 |
splice site |
probably benign |
|
|
R1827:Ntrk3
|
UTSW |
7 |
78247301 |
missense |
probably damaging |
1.00 |
|
R1868:Ntrk3
|
UTSW |
7 |
78192604 |
missense |
possibly damaging |
0.90 |
|
R1873:Ntrk3
|
UTSW |
7 |
78462839 |
missense |
probably benign |
|
|
R1929:Ntrk3
|
UTSW |
7 |
78516723 |
splice site |
probably null |
|
|
R1941:Ntrk3
|
UTSW |
7 |
78247262 |
missense |
probably damaging |
1.00 |
|
R2132:Ntrk3
|
UTSW |
7 |
78477935 |
splice site |
probably benign |
|
|
R2214:Ntrk3
|
UTSW |
7 |
78516772 |
missense |
probably damaging |
1.00 |
|
R2221:Ntrk3
|
UTSW |
7 |
78198852 |
missense |
probably damaging |
1.00 |
|
R2223:Ntrk3
|
UTSW |
7 |
78198852 |
missense |
probably damaging |
1.00 |
|
R2271:Ntrk3
|
UTSW |
7 |
78516723 |
splice site |
probably null |
|
|
R2441:Ntrk3
|
UTSW |
7 |
78302662 |
missense |
probably damaging |
1.00 |
|
R3109:Ntrk3
|
UTSW |
7 |
78460515 |
missense |
probably benign |
0.01 |
|
R3959:Ntrk3
|
UTSW |
7 |
78198842 |
missense |
probably damaging |
1.00 |
|
R4016:Ntrk3
|
UTSW |
7 |
78462947 |
splice site |
probably benign |
|
|
R4028:Ntrk3
|
UTSW |
7 |
78192710 |
missense |
probably damaging |
1.00 |
|
R4067:Ntrk3
|
UTSW |
7 |
78517437 |
missense |
probably damaging |
1.00 |
|
R4398:Ntrk3
|
UTSW |
7 |
78250769 |
nonsense |
probably null |
|
|
R4664:Ntrk3
|
UTSW |
7 |
78461099 |
missense |
probably damaging |
0.99 |
|
R5045:Ntrk3
|
UTSW |
7 |
78460424 |
missense |
probably benign |
0.13 |
|
R5081:Ntrk3
|
UTSW |
7 |
78577774 |
missense |
probably damaging |
0.99 |
|
R5151:Ntrk3
|
UTSW |
7 |
78247300 |
missense |
probably damaging |
1.00 |
|
R5249:Ntrk3
|
UTSW |
7 |
78461166 |
missense |
possibly damaging |
0.87 |
|
R5294:Ntrk3
|
UTSW |
7 |
78517506 |
splice site |
probably null |
|
|
R5594:Ntrk3
|
UTSW |
7 |
78451899 |
missense |
probably benign |
0.10 |
|
R5923:Ntrk3
|
UTSW |
7 |
78451928 |
missense |
possibly damaging |
0.61 |
|
R6878:Ntrk3
|
UTSW |
7 |
78304372 |
missense |
probably benign |
0.00 |
|
R7083:Ntrk3
|
UTSW |
7 |
78250839 |
missense |
probably damaging |
1.00 |
|
R7178:Ntrk3
|
UTSW |
7 |
78356147 |
missense |
possibly damaging |
0.86 |
|
R7487:Ntrk3
|
UTSW |
7 |
78250713 |
missense |
probably damaging |
1.00 |
|
R7607:Ntrk3
|
UTSW |
7 |
78250873 |
missense |
probably benign |
0.03 |
|
R7800:Ntrk3
|
UTSW |
7 |
78302740 |
missense |
probably benign |
0.09 |
|
R7961:Ntrk3
|
UTSW |
7 |
78453328 |
missense |
probably benign |
|
|
R7976:Ntrk3
|
UTSW |
7 |
78356206 |
missense |
probably damaging |
0.97 |
|
R8009:Ntrk3
|
UTSW |
7 |
78453328 |
missense |
probably benign |
|
|
R8032:Ntrk3
|
UTSW |
7 |
78356059 |
missense |
probably damaging |
1.00 |
|
R8104:Ntrk3
|
UTSW |
7 |
78577702 |
missense |
probably damaging |
0.99 |
|
R8230:Ntrk3
|
UTSW |
7 |
78250770 |
missense |
probably damaging |
1.00 |
|
R8254:Ntrk3
|
UTSW |
7 |
78192578 |
missense |
probably damaging |
1.00 |
|
R8412:Ntrk3
|
UTSW |
7 |
78356149 |
missense |
probably benign |
0.02 |
|
R8465:Ntrk3
|
UTSW |
7 |
78462883 |
missense |
probably damaging |
0.99 |
|
R8841:Ntrk3
|
UTSW |
7 |
78356093 |
missense |
probably damaging |
0.99 |
|
R9187:Ntrk3
|
UTSW |
7 |
78247218 |
missense |
possibly damaging |
0.93 |
|
R9444:Ntrk3
|
UTSW |
7 |
78461057 |
missense |
probably damaging |
1.00 |
|
R9475:Ntrk3
|
UTSW |
7 |
78302732 |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCTCCTTCAGGAAGTG -3'
(R):5'- CTCAGACTTTCCAGAGCAGG -3'
Sequencing Primer
(F):5'- CCCAGGGCATTCTTAGCAATGAG -3'
(R):5'- CTTTCCAGAGCAGGGTGAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation