Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02875:Bdnf'

406193

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: 0.354) question?

Stock #

IGL02875

Quality Score

Status

Chromosome

Chromosomal Location

109505045-109557352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109554196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 150 (V150A)

Ref Sequence

ENSEMBL: ENSMUSP00000135762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111047] [ENSMUST00000111051] [ENSMUST00000111049] [ENSMUST00000111050] [ENSMUST00000176893]

AlphaFold

P21237

Predicted Effect

probably damaging
Transcript: ENSMUST00000053317
AA Change: V158A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: V158A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111042
AA Change: V190A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: V190A

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
NGF	175	282	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111043
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111044
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111045
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111046
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111047
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111051
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111049
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000111050
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000176893
AA Change: V150A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: V150A

Domain	Start	End	E-Value	Type
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,293 (GRCm39)	I397V	possibly damaging	Het
Asph	A	G	4: 9,595,380 (GRCm39)	S281P	probably damaging	Het
Birc6	T	C	17: 74,896,713 (GRCm39)	V1053A	probably damaging	Het
Btg4	T	A	9: 51,030,446 (GRCm39)	F182Y	probably benign	Het
Casc3	T	G	11: 98,712,378 (GRCm39)	V139G	probably damaging	Het
Ccno	C	A	13: 113,124,586 (GRCm39)	P52Q	possibly damaging	Het
Cdk1	T	G	10: 69,178,366 (GRCm39)		probably benign	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dmrta1	A	G	4: 89,579,985 (GRCm39)	D315G	possibly damaging	Het
Dnah6	T	C	6: 73,115,698 (GRCm39)	I1515V	probably damaging	Het
Dock7	A	T	4: 98,864,231 (GRCm39)	I1241K	probably benign	Het
Fam180a	T	C	6: 35,290,617 (GRCm39)	D122G	probably damaging	Het
Gm11992	C	T	11: 9,002,887 (GRCm39)		probably benign	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Krt77	T	C	15: 101,777,584 (GRCm39)	D157G	probably damaging	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Ncbp2	T	A	16: 31,772,971 (GRCm39)	L36Q	probably damaging	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8b3	A	G	9: 38,314,472 (GRCm39)	M101V	probably damaging	Het
Oscp1	A	G	4: 125,970,601 (GRCm39)	D130G	probably damaging	Het
Pls1	A	T	9: 95,636,404 (GRCm39)	M615K	possibly damaging	Het
Prep	C	A	10: 45,034,529 (GRCm39)	H680Q	probably damaging	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Skint3	A	T	4: 112,113,079 (GRCm39)	I230L	possibly damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Slfn3	T	C	11: 83,104,253 (GRCm39)	Y375H	probably damaging	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Svep1	A	G	4: 58,082,821 (GRCm39)		probably benign	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het

Other mutations in Bdnf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02