Incidental Mutation 'IGL01595:Bdnf'
ID 93394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bdnf
Ensembl Gene ENSMUSG00000048482
Gene Name brain derived neurotrophic factor
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # IGL01595
Quality Score
Status
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 109554273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 176 (K176*)
Ref Sequence ENSEMBL: ENSMUSP00000135762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111050] [ENSMUST00000111047] [ENSMUST00000176893] [ENSMUST00000111051] [ENSMUST00000111049]
AlphaFold P21237
Predicted Effect probably null
Transcript: ENSMUST00000053317
AA Change: K184*
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: K184*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111042
AA Change: K216*
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: K216*

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
NGF 175 282 7.57e-88 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111043
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111044
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111045
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111046
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111050
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111047
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000176893
AA Change: K176*
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111051
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000111049
AA Change: K176*
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: K176*

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
NGF 135 242 7.57e-88 SMART
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,968,181 (GRCm39) M111V probably damaging Het
Adamts14 A T 10: 61,041,252 (GRCm39) H819Q probably damaging Het
Adamts7 T A 9: 90,075,359 (GRCm39) N1072K probably benign Het
Ahnak T A 19: 8,980,865 (GRCm39) Y716* probably null Het
Arfgef3 T C 10: 18,470,660 (GRCm39) K1702E possibly damaging Het
BB014433 C A 8: 15,092,499 (GRCm39) probably null Het
C2cd5 C T 6: 142,963,748 (GRCm39) R879H probably damaging Het
Capn11 T A 17: 45,950,360 (GRCm39) H327L probably benign Het
Ccdc68 A G 18: 70,089,117 (GRCm39) N220S probably benign Het
Cftr T C 6: 18,198,238 (GRCm39) probably benign Het
Clca3a2 G A 3: 144,793,768 (GRCm39) L296F probably damaging Het
Cubn A T 2: 13,330,027 (GRCm39) L2618Q probably benign Het
Gfi1b A G 2: 28,501,429 (GRCm39) probably null Het
Gpr37 G T 6: 25,669,572 (GRCm39) T424N probably damaging Het
Kank3 G A 17: 34,038,154 (GRCm39) probably null Het
Kcnh5 T C 12: 74,945,101 (GRCm39) Q716R probably benign Het
Kntc1 G A 5: 123,941,758 (GRCm39) M1817I probably benign Het
Krt79 T G 15: 101,840,206 (GRCm39) E330A probably damaging Het
Mapk15 C A 15: 75,867,129 (GRCm39) P82Q probably benign Het
Myh15 A T 16: 48,993,312 (GRCm39) D1649V probably damaging Het
Myo1d T C 11: 80,566,936 (GRCm39) I326V probably benign Het
Nek9 A T 12: 85,361,194 (GRCm39) W504R probably damaging Het
Nlrp4c T A 7: 6,069,111 (GRCm39) C337* probably null Het
Nup160 A G 2: 90,560,081 (GRCm39) N1269D probably damaging Het
Or52e3 A G 7: 102,869,558 (GRCm39) D211G probably damaging Het
Or56b2 T C 7: 104,337,285 (GRCm39) M21T possibly damaging Het
Or8c10 T C 9: 38,279,346 (GRCm39) V168A probably benign Het
Pde6a A G 18: 61,414,599 (GRCm39) M36V probably damaging Het
Perp A G 10: 18,731,407 (GRCm39) Q122R probably damaging Het
S100a7a T C 3: 90,565,107 (GRCm39) Y101H probably benign Het
Sbk2 C A 7: 4,960,712 (GRCm39) V153L possibly damaging Het
Serpinb7 A T 1: 107,356,052 (GRCm39) N25I probably damaging Het
Tbx5 A T 5: 119,978,903 (GRCm39) D105V probably damaging Het
Trip6 T A 5: 137,311,675 (GRCm39) T101S probably benign Het
Ush2a T A 1: 188,386,921 (GRCm39) probably null Het
Other mutations in Bdnf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5301:Bdnf UTSW 2 109,553,884 (GRCm39) missense probably benign
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
Posted On 2013-12-09