Incidental Mutation 'R5000:Bdnf'
ID 389794
Institutional Source Beutler Lab
Gene Symbol Bdnf
Ensembl Gene ENSMUSG00000048482
Gene Name brain derived neurotrophic factor
Synonyms
MMRRC Submission 042594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R5000 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 109505045-109557352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109553993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 122 (N122K)
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: N90K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: N90K

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: N122K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: N122K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: N82K

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: N82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: N82K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,255,946 (GRCm39) F11Y probably benign Het
Abca5 A G 11: 110,201,050 (GRCm39) L450P probably damaging Het
Abi1 T A 2: 22,840,211 (GRCm39) R357W probably damaging Het
Acot7 G A 4: 152,270,820 (GRCm39) G55R probably benign Het
Aicda G A 6: 122,538,826 (GRCm39) V14I probably damaging Het
Anxa4 G T 6: 86,742,766 (GRCm39) probably benign Het
Apobr T A 7: 126,185,729 (GRCm39) D413E possibly damaging Het
Ash1l T C 3: 88,965,941 (GRCm39) Y2448H probably damaging Het
Atf7ip A G 6: 136,559,426 (GRCm39) E749G probably damaging Het
Atp8b3 A T 10: 80,357,676 (GRCm39) N1114K possibly damaging Het
Boc A T 16: 44,310,517 (GRCm39) I801N probably damaging Het
Brap A T 5: 121,800,089 (GRCm39) K37* probably null Het
Ccar1 C T 10: 62,586,784 (GRCm39) E885K unknown Het
Ccdc103 A G 11: 102,774,932 (GRCm39) N177S probably benign Het
Ccdc116 G A 16: 16,959,657 (GRCm39) P344L possibly damaging Het
Cdca5 T C 19: 6,135,463 (GRCm39) S28P possibly damaging Het
Ceacam20 T C 7: 19,699,453 (GRCm39) I14T probably damaging Het
Chrnb1 A T 11: 69,677,858 (GRCm39) V298E probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Csnk1a1 T C 18: 61,711,840 (GRCm39) F97L probably damaging Het
Dag1 A T 9: 108,085,216 (GRCm39) S642T probably benign Het
Dedd2 A G 7: 24,903,068 (GRCm39) V297A possibly damaging Het
Dhcr7 C T 7: 143,395,060 (GRCm39) T189M possibly damaging Het
Dlgap1 T C 17: 71,073,053 (GRCm39) S691P probably damaging Het
Dmgdh A C 13: 93,825,046 (GRCm39) H123P probably damaging Het
Dnah6 C T 6: 73,121,798 (GRCm39) V1395I probably benign Het
Dnah7a T C 1: 53,606,201 (GRCm39) Y1273C probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Elac2 T C 11: 64,876,379 (GRCm39) F3L probably benign Het
Elovl7 A T 13: 108,410,915 (GRCm39) K163N probably benign Het
Epg5 T C 18: 77,997,376 (GRCm39) V413A probably benign Het
Espl1 T A 15: 102,206,986 (GRCm39) L150Q probably damaging Het
F2rl3 T A 8: 73,489,307 (GRCm39) L178Q probably damaging Het
Fam120a T C 13: 49,051,143 (GRCm39) E754G probably damaging Het
Fam53b T C 7: 132,317,730 (GRCm39) N304S probably benign Het
Fbxo41 T C 6: 85,460,901 (GRCm39) E269G probably damaging Het
Fcrla T C 1: 170,749,959 (GRCm39) T4A probably benign Het
Frmpd1 A T 4: 45,261,931 (GRCm39) probably null Het
Gm9376 A G 14: 118,504,702 (GRCm39) M45V probably benign Het
Gpr68 G A 12: 100,844,596 (GRCm39) A316V probably benign Het
Hmgcl G A 4: 135,689,511 (GRCm39) C323Y probably benign Het
Hnrnpu T C 1: 178,156,941 (GRCm39) probably benign Het
Ier2 T A 8: 85,389,353 (GRCm39) I10F probably damaging Het
Ip6k1 C T 9: 107,922,798 (GRCm39) Q234* probably null Het
Llgl2 T C 11: 115,735,728 (GRCm39) V108A probably benign Het
Lrfn3 T C 7: 30,059,805 (GRCm39) N140S possibly damaging Het
Lrig1 T A 6: 94,588,430 (GRCm39) H573L probably damaging Het
Lrrk2 T A 15: 91,634,081 (GRCm39) W1393R probably damaging Het
Mrc1 T A 2: 14,249,000 (GRCm39) Y179N probably damaging Het
Mtfr1 C T 3: 19,265,743 (GRCm39) L93F probably damaging Het
Muc19 T C 15: 91,757,429 (GRCm39) noncoding transcript Het
Ndst2 C T 14: 20,774,975 (GRCm39) probably null Het
Nmd3 A T 3: 69,624,735 (GRCm39) probably benign Het
Nsd3 A G 8: 26,172,593 (GRCm39) Y784C probably damaging Het
Or4a27 A T 2: 88,559,910 (GRCm39) I11N probably damaging Het
Or7a36 G A 10: 78,820,514 (GRCm39) V297I probably benign Het
Papln A G 12: 83,821,663 (GRCm39) Y297C probably damaging Het
Pdhx T C 2: 102,871,385 (GRCm39) probably null Het
Pdpk1 T C 17: 24,330,019 (GRCm39) T6A possibly damaging Het
Prcp T C 7: 92,568,368 (GRCm39) W267R probably damaging Het
Prg2 T C 2: 84,812,367 (GRCm39) S26P probably benign Het
Psg26 A T 7: 18,214,057 (GRCm39) Y202N possibly damaging Het
Psrc1 T C 3: 108,287,839 (GRCm39) probably benign Het
Rap1gds1 A T 3: 138,662,011 (GRCm39) M366K probably damaging Het
Robo4 G T 9: 37,319,664 (GRCm39) R527L probably benign Het
Sel1l3 G A 5: 53,357,776 (GRCm39) T72M probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d A G 5: 12,498,005 (GRCm39) T4A probably benign Het
Shroom1 A T 11: 53,357,944 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,507,497 (GRCm39) probably null Het
Snx29 A C 16: 11,221,371 (GRCm39) I266L probably damaging Het
Spo11 T C 2: 172,831,193 (GRCm39) S255P probably damaging Het
Spock3 T C 8: 63,698,158 (GRCm39) V167A possibly damaging Het
Tmc7 A G 7: 118,158,077 (GRCm39) probably null Het
Tmtc4 A G 14: 123,170,743 (GRCm39) V509A possibly damaging Het
Trim24 A G 6: 37,935,547 (GRCm39) D880G probably benign Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr4 T A 4: 139,163,480 (GRCm39) C2627S probably damaging Het
Unc5d A T 8: 29,205,775 (GRCm39) M512K possibly damaging Het
Usp18 A G 6: 121,229,479 (GRCm39) R33G possibly damaging Het
Utp23 T A 15: 51,745,569 (GRCm39) V23D probably damaging Het
Wdr17 T A 8: 55,118,161 (GRCm39) M512L possibly damaging Het
Wdr64 T A 1: 175,553,941 (GRCm39) probably null Het
Zbtb6 T C 2: 37,319,251 (GRCm39) T226A probably benign Het
Zc3hc1 T A 6: 30,375,987 (GRCm39) H191L possibly damaging Het
Zdhhc4 C A 5: 143,310,688 (GRCm39) C48F probably damaging Het
Zfp335 T A 2: 164,736,588 (GRCm39) T1016S probably benign Het
Zfp583 A G 7: 6,328,473 (GRCm39) Y39H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTTCGGTTGCATGAAGGCG -3'
(R):5'- TACTGTCACACACGCTCAG -3'

Sequencing Primer
(F):5'- GCGCCCATGAAAGAAGTAAACGTC -3'
(R):5'- ACGCTCAGCTCCCCACG -3'
Posted On 2016-06-06