Incidental Mutation 'R4196:Ntf3'
| ID |
318560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntf3
|
| Ensembl Gene |
ENSMUSG00000049107 |
| Gene Name |
neurotrophin 3 |
| Synonyms |
NT3, Ntf-3, NT-3 |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126078375-126143703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126079138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 110
(T110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050484]
[ENSMUST00000112244]
[ENSMUST00000204542]
|
| AlphaFold |
P20181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050484
AA Change: T110A
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: T110A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
NGF
|
145 |
250 |
1.19e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112244
AA Change: T123A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: T123A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
NGF
|
158 |
263 |
1.19e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204542
AA Change: T123A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: T123A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
NGF
|
158 |
263 |
1.19e-85 |
SMART |
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the neurotrophins that have a wide variety of functions in both neural and non-neural tissues. The encoded preproprotein undergoes proteolytic processing to generate a noncovalently linked homodimeric mature protein that can bind to the transmembrane receptor tyrosine kinases to initiate a series of signaling events. Mice lacking the encoded protein exhibit severe defects in the peripheral nervous system including a complete lack of spinal proprioceptive afferents and their peripheral sense organs. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of peripheral sensory and sympathetic neurons, lack of spinal propioceptive afferents and their sense organs, impaired suckling and movement, and postnatal lethality. Heterozygotes show mild defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
probably benign |
Het |
|
| Other mutations in Ntf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02552:Ntf3
|
APN |
6 |
126,078,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02982:Ntf3
|
APN |
6 |
126,079,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4403001:Ntf3
|
UTSW |
6 |
126,078,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Ntf3
|
UTSW |
6 |
126,078,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Ntf3
|
UTSW |
6 |
126,079,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1666:Ntf3
|
UTSW |
6 |
126,079,401 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1822:Ntf3
|
UTSW |
6 |
126,079,209 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1920:Ntf3
|
UTSW |
6 |
126,079,485 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2255:Ntf3
|
UTSW |
6 |
126,078,689 (GRCm39) |
makesense |
probably null |
|
|
R3888:Ntf3
|
UTSW |
6 |
126,079,405 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6707:Ntf3
|
UTSW |
6 |
126,141,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6983:Ntf3
|
UTSW |
6 |
126,078,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7357:Ntf3
|
UTSW |
6 |
126,078,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Ntf3
|
UTSW |
6 |
126,078,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Ntf3
|
UTSW |
6 |
126,079,203 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGCTGAGGACTTGTCGG -3'
(R):5'- TCATCATCAAGCTGATCCAGGC -3'
Sequencing Primer
(F):5'- ACTTGTCGGTCACCCACAG -3'
(R):5'- CAAGCTTTCCAAACAGATGGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation