Mutagenetix > Incidental Mutation

Incidental Mutation 'R9702:Bdnf'

729609

Institutional Source

Beutler Lab

Gene Symbol

Bdnf

Ensembl Gene

ENSMUSG00000048482

Gene Name

brain derived neurotrophic factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R9702 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109505045-109557352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109554117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 164 (M164L)

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

possibly damaging
Transcript: ENSMUST00000053317
AA Change: M132L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: M132L

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

possibly damaging
Transcript: ENSMUST00000111042
AA Change: M164L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: M164L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111043
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111044
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111045
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111046
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111047
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111049
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111050
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000111051
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: M124L

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

possibly damaging
Transcript: ENSMUST00000176893
AA Change: M124L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: M124L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,107,378 (GRCm39)	Y746H	probably damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,202 (GRCm39)	R493H	possibly damaging	Het
Apob	G	T	12: 8,057,559 (GRCm39)	A2014S	probably damaging	Het
Ccdc187	C	T	2: 26,172,222 (GRCm39)	V287M	unknown	Het
Cd164	G	A	10: 41,404,818 (GRCm39)	R192Q	probably damaging	Het
Cd84	T	C	1: 171,700,498 (GRCm39)	V205A	probably benign	Het
Cfap161	T	A	7: 83,442,652 (GRCm39)	M54L	probably benign	Het
Crim1	T	A	17: 78,681,516 (GRCm39)	V990E	probably damaging	Het
Dsc1	A	G	18: 20,227,685 (GRCm39)	F518L	probably benign	Het
Esyt1	G	A	10: 128,356,607 (GRCm39)	S346L	probably damaging	Het
Fbxo30	G	T	10: 11,166,382 (GRCm39)	C368F	probably benign	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Gfra4	T	A	2: 130,884,539 (GRCm39)	S22C	probably benign	Het
Gm11992	T	G	11: 9,006,568 (GRCm39)	V166G	probably benign	Het
Gp1bb	A	T	16: 18,439,884 (GRCm39)	L70Q	probably damaging	Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kynu	T	A	2: 43,479,469 (GRCm39)	M121K	probably damaging	Het
Ldb3	A	G	14: 34,299,090 (GRCm39)	V178A	probably benign	Het
Lrrc31	A	G	3: 30,735,226 (GRCm39)	L350P	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrps23	C	T	11: 88,100,998 (GRCm39)	T121M	probably damaging	Het
Nlrp4c	T	A	7: 6,068,801 (GRCm39)	V234E	probably benign	Het
Or51f1e	T	C	7: 102,747,343 (GRCm39)	Y132H	probably damaging	Het
Pign	A	T	1: 105,485,212 (GRCm39)	D782E	probably damaging	Het
Rab11b	C	A	17: 33,968,026 (GRCm39)	R82L	possibly damaging	Het
Sema3c	T	C	5: 17,858,828 (GRCm39)	S76P	probably damaging	Het
Slc28a2b	T	A	2: 122,354,012 (GRCm39)	I546N	probably damaging	Het
Sobp	T	C	10: 42,897,944 (GRCm39)	N547S	probably benign	Het
Tigd3	G	A	19: 5,942,836 (GRCm39)	T98M	probably damaging	Het
Tox	T	G	4: 6,697,418 (GRCm39)	M462L	probably benign	Het
Vmn1r158	T	A	7: 22,490,065 (GRCm39)	Q48L	probably benign	Het
Vps8	A	G	16: 21,462,883 (GRCm39)	T1383A	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp108	C	T	7: 23,960,195 (GRCm39)	T262I	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
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
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
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'- TTTGAGCACGTCATCGAAGAGC -3'
(R):5'- AGCCTTCCTTGGTGTAACCC -3'

Sequencing Primer
(F):5'- ACGTCATCGAAGAGCTGCTG -3'
(R):5'- ACCCATGGGATTACACTTGG -3'

Posted On

2022-10-06