Incidental Mutation 'IGL00546:Bdnf'
ID 7096
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 # IGL00546
Quality Score
Status
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109553892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 89 (P89S)
Ref Sequence ENSEMBL: ENSMUSP00000106671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111050] [ENSMUST00000111049] [ENSMUST00000111051] [ENSMUST00000111047] [ENSMUST00000176893]
AlphaFold P21237
Predicted Effect probably benign
Transcript: ENSMUST00000053317
AA Change: P57S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: P57S

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 benign
Transcript: ENSMUST00000111042
AA Change: P89S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: P89S

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
NGF 175 282 7.57e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111043
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111044
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111045
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111046
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111050
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111049
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111051
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000111047
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: P49S

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 benign
Transcript: ENSMUST00000176893
AA Change: P49S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: P49S

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,401,096 (GRCm39) V127A possibly damaging Het
9130008F23Rik C A 17: 41,191,004 (GRCm39) V142L possibly damaging Het
Adnp2 T C 18: 80,172,082 (GRCm39) T776A probably benign Het
Arid4a T A 12: 71,122,445 (GRCm39) V942E probably benign Het
Camsap3 A G 8: 3,652,077 (GRCm39) D302G probably damaging Het
Cnot6 A T 11: 49,576,093 (GRCm39) S158T probably benign Het
Dbt A C 3: 116,332,930 (GRCm39) K250Q probably benign Het
Exd2 A G 12: 80,527,321 (GRCm39) I171M probably benign Het
Ints14 A T 9: 64,880,074 (GRCm39) N196I probably benign Het
Krt79 G T 15: 101,838,308 (GRCm39) N482K probably benign Het
Loxhd1 G A 18: 77,493,672 (GRCm39) A678T probably damaging Het
Mrpl51 A G 6: 125,170,177 (GRCm39) probably benign Het
Mrtfb C A 16: 13,221,086 (GRCm39) A754D probably benign Het
Mrtfb T G 16: 13,221,089 (GRCm39) L766R possibly damaging Het
Nipsnap1 A G 11: 4,839,098 (GRCm39) E126G possibly damaging Het
Plxnb2 A G 15: 89,046,569 (GRCm39) probably benign Het
Semp2l1 A T 1: 32,585,748 (GRCm39) M54K probably benign Het
Slc15a5 A G 6: 138,020,536 (GRCm39) Y266H probably damaging Het
Ttn C A 2: 76,697,817 (GRCm39) D73Y probably damaging Het
Other mutations in Bdnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20