Incidental Mutation 'R5259:Bdnf'
ID 401282
Institutional Source Beutler Lab
Gene Symbol Bdnf
Ensembl Gene ENSMUSG00000048482
Gene Name brain derived neurotrophic factor
Synonyms
MMRRC Submission 042856-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R5259 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109554327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 234 (T234A)
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: T202A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: T202A

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: T234A

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: T234A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: T194A

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: T194A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: T194A

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 0.0796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,325 (GRCm39) T50P probably damaging Het
Adam5 T A 8: 25,300,850 (GRCm39) L226F possibly damaging Het
Adi1 T C 12: 28,725,544 (GRCm39) probably benign Het
Apc T C 18: 34,447,343 (GRCm39) V1379A probably benign Het
Atp13a4 G A 16: 29,275,428 (GRCm39) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm39) N338I probably benign Het
Catsperd A C 17: 56,967,235 (GRCm39) T539P possibly damaging Het
Cd109 A T 9: 78,617,434 (GRCm39) T1311S probably benign Het
Ceacam18 T C 7: 43,286,536 (GRCm39) probably null Het
Cfap96 T C 8: 46,415,373 (GRCm39) E211G probably benign Het
Cfhr4 C T 1: 139,668,233 (GRCm39) C300Y probably damaging Het
Chsy3 T A 18: 59,543,318 (GRCm39) S819T probably damaging Het
Col4a4 G T 1: 82,431,614 (GRCm39) R1557S unknown Het
Ddx18 A G 1: 121,495,518 (GRCm39) probably null Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Fam13c C G 10: 70,276,893 (GRCm39) A17G probably benign Het
Fermt1 T C 2: 132,748,685 (GRCm39) Y646C probably damaging Het
Fra10ac1 A G 19: 38,188,110 (GRCm39) S229P probably benign Het
Gbp8 A T 5: 105,198,845 (GRCm39) H23Q probably benign Het
Gdf2 T C 14: 33,666,788 (GRCm39) V170A probably benign Het
Gm15723 T C 10: 114,652,722 (GRCm39) noncoding transcript Het
Gm815 G A 19: 26,863,806 (GRCm39) V16I unknown Het
Ighv1-75 T A 12: 115,797,797 (GRCm39) K42* probably null Het
Isx A G 8: 75,619,473 (GRCm39) T222A probably benign Het
Itgax G A 7: 127,747,450 (GRCm39) D1018N probably damaging Het
Kcnc4 A G 3: 107,355,401 (GRCm39) F349S probably damaging Het
Lama3 A C 18: 12,598,565 (GRCm39) S991R probably damaging Het
Larp4b C T 13: 9,208,220 (GRCm39) A398V probably damaging Het
Ltbp1 A G 17: 75,670,357 (GRCm39) N1466S probably benign Het
Metrn A T 17: 26,015,514 (GRCm39) L67Q probably damaging Het
Morc1 G A 16: 48,451,132 (GRCm39) R937Q probably benign Het
Mta3 A G 17: 84,112,003 (GRCm39) Y577C probably damaging Het
Nalcn A G 14: 123,753,063 (GRCm39) F308L possibly damaging Het
Nat8 A T 6: 85,807,873 (GRCm39) S87T probably benign Het
Oplah A T 15: 76,185,410 (GRCm39) probably null Het
Or2ak6 A G 11: 58,592,778 (GRCm39) N84D probably benign Het
Or2ak6 A C 11: 58,592,779 (GRCm39) N84T possibly damaging Het
Or7e166 A G 9: 19,624,109 (GRCm39) probably null Het
Pcdh15 A T 10: 74,232,204 (GRCm39) I668L possibly damaging Het
Pecr A G 1: 72,316,444 (GRCm39) probably null Het
Plxna4 T C 6: 32,493,956 (GRCm39) E220G possibly damaging Het
Pnma8b A G 7: 16,679,199 (GRCm39) K61R unknown Het
Prl8a6 C T 13: 27,620,179 (GRCm39) W81* probably null Het
Rab33b C T 3: 51,392,033 (GRCm39) probably benign Het
Rbm33 T A 5: 28,557,772 (GRCm39) probably null Het
Relch A G 1: 105,649,101 (GRCm39) S747G probably benign Het
Reln C T 5: 22,308,395 (GRCm39) V325M possibly damaging Het
Rheb A C 5: 25,008,743 (GRCm39) D158E probably benign Het
Rhebl1 T A 15: 98,778,464 (GRCm39) probably benign Het
Rmdn2 T A 17: 79,975,446 (GRCm39) Y312N probably damaging Het
Scamp1 T G 13: 94,368,594 (GRCm39) N58T probably benign Het
Semp2l1 A T 1: 32,584,598 (GRCm39) C437* probably null Het
Slc35a1 C T 4: 34,683,322 (GRCm39) V53M probably benign Het
Slc35f3 A T 8: 127,115,872 (GRCm39) L266F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Ticrr T A 7: 79,344,471 (GRCm39) S1445R probably benign Het
Ttc23l T C 15: 10,515,236 (GRCm39) N381D probably damaging Het
Usp17ld T A 7: 102,899,781 (GRCm39) K384* probably null Het
Vmn1r20 T A 6: 57,409,050 (GRCm39) Y125* probably null Het
Zfp738 G T 13: 67,817,805 (GRCm39) Q729K probably benign Het
Zfp770 T A 2: 114,027,674 (GRCm39) M132L 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
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
Predicted Primers PCR Primer
(F):5'- CATGTCTATGAGGGTTCGGC -3'
(R):5'- TGTGCGCAAATGACTGTTTCC -3'

Sequencing Primer
(F):5'- TATGAGGGTTCGGCGCCAC -3'
(R):5'- GCAAATGACTGTTTCCTTTCAGG -3'
Posted On 2016-07-06