Incidental Mutation 'IGL02450:Bdnf'
ID294127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bdnf
Ensembl Gene ENSMUSG00000048482
Gene Namebrain derived neurotrophic factor
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.626) question?
Stock #IGL02450
Quality Score
Status
Chromosome2
Chromosomal Location109674700-109727007 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 109723604 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 108 (V108I)
Ref Sequence ENSEMBL: ENSMUSP00000106671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111047] [ENSMUST00000111049] [ENSMUST00000111050] [ENSMUST00000111051] [ENSMUST00000176893]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053317
AA Change: V76I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: V76I

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 possibly damaging
Transcript: ENSMUST00000111042
AA Change: V108I

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: V108I

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
NGF 175 282 7.57e-88 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111043
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111044
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111045
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111046
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111047
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111049
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111050
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000111051
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: V68I

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 possibly damaging
Transcript: ENSMUST00000176893
AA Change: V68I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: V68I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Bdnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Bdnf APN 2 109723547 missense probably benign 0.02
IGL01285:Bdnf APN 2 109723586 missense probably benign 0.02
IGL01595:Bdnf APN 2 109723928 nonsense probably null
IGL01737:Bdnf APN 2 109723755 missense probably damaging 1.00
IGL02793:Bdnf APN 2 109723851 missense probably damaging 1.00
IGL02875:Bdnf APN 2 109723851 missense probably damaging 1.00
R0505:Bdnf UTSW 2 109675343 splice site probably null
R0626:Bdnf UTSW 2 109723538 missense probably benign 0.01
R0792:Bdnf UTSW 2 109724118 missense probably damaging 1.00
R1568:Bdnf UTSW 2 109723794 missense probably damaging 1.00
R2066:Bdnf UTSW 2 109723902 missense probably damaging 1.00
R4704:Bdnf UTSW 2 109723692 missense possibly damaging 0.89
R5000:Bdnf UTSW 2 109723648 missense probably benign 0.01
R5259:Bdnf UTSW 2 109723982 missense probably benign 0.37
R5301:Bdnf UTSW 2 109723539 missense probably benign
R6344:Bdnf UTSW 2 109723677 missense probably benign 0.01
R7392:Bdnf UTSW 2 109723930 missense probably benign 0.01
X0028:Bdnf UTSW 2 109723883 missense possibly damaging 0.77
X0058:Bdnf UTSW 2 109723637 missense probably benign 0.00
Posted On2015-04-16