Incidental Mutation 'IGL01285:Bdnf'
ID 72687
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 # IGL01285
Quality Score
Status
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109553931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 102 (A102T)
Ref Sequence ENSEMBL: ENSMUSP00000106671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111049] [ENSMUST00000111050] [ENSMUST00000176893] [ENSMUST00000111047] [ENSMUST00000111051]
AlphaFold P21237
Predicted Effect probably benign
Transcript: ENSMUST00000053317
AA Change: A70T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: A70T

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: A102T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: A102T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: A62T

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,610 (GRCm39) N599S probably benign Het
Adam6a A T 12: 113,509,893 (GRCm39) *755Y probably null Het
Adgrb3 G T 1: 25,132,868 (GRCm39) T1166K probably benign Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Ano1 A G 7: 144,149,275 (GRCm39) V862A probably damaging Het
Asap2 C T 12: 21,279,264 (GRCm39) A382V probably damaging Het
Asb18 A G 1: 89,923,963 (GRCm39) V100A probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Cfap47 A G X: 78,532,764 (GRCm39) I767T possibly damaging Het
Des G A 1: 75,339,227 (GRCm39) A251T probably benign Het
Dmd C T X: 84,153,590 (GRCm39) Q3224* probably null Het
Endog G T 2: 30,061,975 (GRCm39) probably null Het
Ggt7 A G 2: 155,342,691 (GRCm39) V269A probably damaging Het
Gucy2c A G 6: 136,686,739 (GRCm39) F808S probably damaging Het
Hira A G 16: 18,730,930 (GRCm39) T210A probably benign Het
Ifitm5 C A 7: 140,530,076 (GRCm39) R16L probably benign Het
Igdcc4 T C 9: 65,031,273 (GRCm39) C404R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Irf9 A G 14: 55,845,058 (GRCm39) E258G probably damaging Het
Megf11 T C 9: 64,567,728 (GRCm39) C406R probably damaging Het
Olfml1 A G 7: 107,189,364 (GRCm39) N143S possibly damaging Het
Or4m1 A G 14: 50,557,713 (GRCm39) F193S possibly damaging Het
Or6c66b T A 10: 129,376,711 (GRCm39) F102I probably benign Het
Or7g30 A G 9: 19,352,266 (GRCm39) D19G probably benign Het
Otof G T 5: 30,562,527 (GRCm39) Q254K probably damaging Het
Pate7 A T 9: 35,688,044 (GRCm39) N65K possibly damaging Het
Plcd3 A G 11: 102,968,696 (GRCm39) F332L probably benign Het
Plxnc1 T C 10: 94,635,230 (GRCm39) D1332G probably damaging Het
Rnasel A T 1: 153,634,130 (GRCm39) D521V probably benign Het
Sema5a T A 15: 32,575,143 (GRCm39) V417D possibly damaging Het
Senp6 G A 9: 80,044,000 (GRCm39) R877Q probably benign Het
Shroom2 A T X: 151,442,353 (GRCm39) D937E probably damaging Het
Slc35a3 A G 3: 116,488,262 (GRCm39) S142P probably damaging Het
Srpx A T X: 9,905,298 (GRCm39) V398E probably damaging Het
Stk10 A T 11: 32,560,653 (GRCm39) K669N possibly damaging Het
Sumf2 A G 5: 129,878,811 (GRCm39) D49G probably damaging Het
Syde1 T A 10: 78,424,721 (GRCm39) E370D probably damaging Het
Tas2r115 G T 6: 132,714,641 (GRCm39) S103R probably damaging Het
Top2a G A 11: 98,896,985 (GRCm39) probably benign Het
Ttn T A 2: 76,550,842 (GRCm39) T23190S probably damaging Het
Ttyh3 C A 5: 140,615,167 (GRCm39) C407F probably damaging Het
Vmn2r27 G T 6: 124,169,370 (GRCm39) H587N possibly damaging Het
Vmn2r74 A G 7: 85,606,692 (GRCm39) I218T possibly damaging Het
Vsig10 A G 5: 117,462,954 (GRCm39) N60S probably benign Het
Zc3h7a A G 16: 10,956,979 (GRCm39) S877P probably damaging Het
Zfp979 G T 4: 147,699,853 (GRCm39) T29N probably damaging Het
Znfx1 G A 2: 166,880,615 (GRCm39) R390C possibly damaging Het
Other mutations in Bdnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Bdnf APN 2 109,553,892 (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 2013-10-07