Incidental Mutation 'R5301:Bdnf'
| ID |
404232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bdnf
|
| Ensembl Gene |
ENSMUSG00000048482 |
| Gene Name |
brain derived neurotrophic factor |
| Synonyms |
|
| MMRRC Submission |
042884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R5301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
109505045-109557352 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109553884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 46
(V46A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053317]
[ENSMUST00000111042]
[ENSMUST00000111043]
[ENSMUST00000111044]
[ENSMUST00000111045]
[ENSMUST00000111046]
[ENSMUST00000111047]
[ENSMUST00000111049]
[ENSMUST00000111050]
[ENSMUST00000111051]
[ENSMUST00000176893]
|
| AlphaFold |
P21237 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053317
AA Change: V54A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: V54A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
NGF
|
143 |
250 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111042
AA Change: V86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: V86A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
154 |
N/A |
INTRINSIC |
|
NGF
|
175 |
282 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111043
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111044
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111045
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111046
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111047
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111049
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111050
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111051
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176893
AA Change: V46A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
NGF
|
135 |
242 |
7.57e-88 |
SMART |
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (52/56) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the nerve growth factor family. It is involved in the growth, differentiation and survival of specific types of developing neurons both in the central nervous system (CNS) and the peripheral nervous system. It is also involved in regulating synaptic plasticity in the CNS. Expression of a similar gene in human is reduced in both Alzheimer's and Huntington disease patients. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
| Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
| Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
| Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
| Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
| Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
| Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
| Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
| Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
| Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
| Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
probably benign |
Het |
|
| Other mutations in Bdnf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Bdnf
|
APN |
2 |
109,553,892 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01285:Bdnf
|
APN |
2 |
109,553,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01595:Bdnf
|
APN |
2 |
109,554,273 (GRCm39) |
nonsense |
probably null |
|
|
IGL01737:Bdnf
|
APN |
2 |
109,554,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Bdnf
|
APN |
2 |
109,553,949 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02793:Bdnf
|
APN |
2 |
109,554,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Bdnf
|
APN |
2 |
109,554,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Bdnf
|
UTSW |
2 |
109,505,688 (GRCm39) |
splice site |
probably null |
|
|
R0626:Bdnf
|
UTSW |
2 |
109,553,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0792:Bdnf
|
UTSW |
2 |
109,554,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Bdnf
|
UTSW |
2 |
109,554,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Bdnf
|
UTSW |
2 |
109,554,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Bdnf
|
UTSW |
2 |
109,554,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5000:Bdnf
|
UTSW |
2 |
109,553,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5259:Bdnf
|
UTSW |
2 |
109,554,327 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6344:Bdnf
|
UTSW |
2 |
109,554,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7392:Bdnf
|
UTSW |
2 |
109,554,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9481:Bdnf
|
UTSW |
2 |
109,553,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9558:Bdnf
|
UTSW |
2 |
109,539,999 (GRCm39) |
missense |
|
|
|
R9702:Bdnf
|
UTSW |
2 |
109,554,117 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0028:Bdnf
|
UTSW |
2 |
109,554,228 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0058:Bdnf
|
UTSW |
2 |
109,553,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCAGATGGGCCACATG -3'
(R):5'- TTGACTGCTGAGCATCACC -3'
Sequencing Primer
(F):5'- GCTGTCCCCGAGAAAGAAAGTTC -3'
(R):5'- TCACCCGGGAAGTGTACAAGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation