Incidental Mutation 'R6344:Bdnf'
ID 514037
Institutional Source Beutler Lab
Gene Symbol Bdnf
Ensembl Gene ENSMUSG00000048482
Gene Name brain derived neurotrophic factor
Synonyms
MMRRC Submission 044498-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R6344 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109554022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 132 (Y132F)
Ref Sequence ENSEMBL: ENSMUSP00000106671 (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: Y100F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: Y100F

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: Y132F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: Y132F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: Y92F

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: Y92F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: Y92F

DomainStartEndE-ValueType
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 0.1378 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,327,706 (GRCm39) P707L probably damaging Het
Bbip1 A G 19: 53,919,912 (GRCm39) V23A probably benign Het
C4bp T C 1: 130,583,752 (GRCm39) D72G probably benign Het
Cdcp1 T A 9: 123,011,447 (GRCm39) K343N possibly damaging Het
Cep112 A T 11: 108,410,000 (GRCm39) Y472F probably damaging Het
Cops2 A T 2: 125,700,899 (GRCm39) probably benign Het
Cyp27a1 T C 1: 74,776,008 (GRCm39) probably null Het
Dnah7a T C 1: 53,436,349 (GRCm39) I3998V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Fkbpl A G 17: 34,864,544 (GRCm39) K104R probably damaging Het
Helq G T 5: 100,914,594 (GRCm39) A966E probably benign Het
Iba57 G A 11: 59,049,119 (GRCm39) P350L probably damaging Het
Iqgap3 T C 3: 87,989,401 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,713 (GRCm39) V137A probably benign Het
Kif19a G A 11: 114,672,777 (GRCm39) probably null Het
Kmt2a A T 9: 44,733,156 (GRCm39) probably benign Het
Lilra5 T A 7: 4,241,785 (GRCm39) F195I probably damaging Het
Mcm9 A G 10: 53,414,033 (GRCm39) I349T probably benign Het
Mlst8 A G 17: 24,696,300 (GRCm39) L143P probably damaging Het
Mrc1 T C 2: 14,248,985 (GRCm39) F174L probably damaging Het
Muc5b T A 7: 141,416,708 (GRCm39) L3218Q possibly damaging Het
Myo1h A G 5: 114,466,776 (GRCm39) S275G probably damaging Het
Myo5a T A 9: 75,067,791 (GRCm39) V615D probably benign Het
Myo9b T C 8: 71,780,558 (GRCm39) L485P probably damaging Het
Nav1 A G 1: 135,378,534 (GRCm39) Y1646H probably damaging Het
Nsf A T 11: 103,752,730 (GRCm39) V539D probably damaging Het
Nutm1 A T 2: 112,079,247 (GRCm39) N889K possibly damaging Het
Or2n1b C T 17: 38,459,611 (GRCm39) A44V probably benign Het
Or55b3 A G 7: 102,126,738 (GRCm39) L113P probably damaging Het
Pcdhga2 T A 18: 37,803,815 (GRCm39) V553E probably benign Het
Pkmyt1 T C 17: 23,951,730 (GRCm39) S95P possibly damaging Het
Ranbp2 T A 10: 58,319,708 (GRCm39) probably null Het
Saxo2 T A 7: 82,284,073 (GRCm39) I262F probably damaging Het
Sco1 C T 11: 66,946,571 (GRCm39) R115W probably damaging Het
Slc27a3 G T 3: 90,294,961 (GRCm39) Y330* probably null Het
Slc6a4 C T 11: 76,909,080 (GRCm39) T364I probably damaging Het
Slit2 A G 5: 48,377,023 (GRCm39) I388V probably benign Het
Smc6 C A 12: 11,347,107 (GRCm39) probably benign Het
Snx25 C T 8: 46,488,675 (GRCm39) W747* probably null Het
Stard9 T A 2: 120,534,801 (GRCm39) M3686K probably benign Het
Syne1 T C 10: 4,972,212 (GRCm39) D8732G probably benign Het
Tcaf3 A G 6: 42,574,105 (GRCm39) S36P possibly damaging Het
Trpv6 T C 6: 41,602,356 (GRCm39) probably null Het
Tspear T C 10: 77,710,847 (GRCm39) F490L possibly damaging Het
Ttn A G 2: 76,552,196 (GRCm39) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,317 (GRCm39) E155D probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Washc2 G T 6: 116,235,719 (GRCm39) Q977H probably benign Het
Yars2 T A 16: 16,120,899 (GRCm39) W18R probably benign 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
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
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'- ACTTCGGTTGCATGAAGGC -3'
(R):5'- TCGCTAATACTGTCACACACG -3'

Sequencing Primer
(F):5'- TTGGCCTACCCAGGTGTG -3'
(R):5'- GCTAATACTGTCACACACGCTCAG -3'
Posted On 2018-04-27