Mutagenetix > Incidental Mutations

Incidental Mutation 'R1568:Bdnf'

175395

Institutional Source

Beutler Lab

Gene Symbol

Bdnf

Ensembl Gene

ENSMUSG00000048482

Gene Name

brain derived neurotrophic factor

Synonyms

MMRRC Submission

039607-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109674700-109727007 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109723794 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 131 (H131R)

Ref Sequence

ENSEMBL: ENSMUSP00000135762 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053317
AA Change: H139R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: H139R

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: H171R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: H171R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: H131R

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: H131R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: H131R

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	Het

Other mutations in Bdnf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Bdnf	APN	2	109723547	missense	probably benign	0.02
IGL01285:Bdnf	APN	2	109723586	missense	probably benign	0.02
IGL01595:Bdnf	APN	2	109723928	nonsense	probably null
IGL01737:Bdnf	APN	2	109723755	missense	probably damaging	1.00
IGL02450:Bdnf	APN	2	109723604	missense	possibly damaging	0.75
IGL02793:Bdnf	APN	2	109723851	missense	probably damaging	1.00
IGL02875:Bdnf	APN	2	109723851	missense	probably damaging	1.00
R0505:Bdnf	UTSW	2	109675343	splice site	probably null
R0626:Bdnf	UTSW	2	109723538	missense	probably benign	0.01
R0792:Bdnf	UTSW	2	109724118	missense	probably damaging	1.00
R2066:Bdnf	UTSW	2	109723902	missense	probably damaging	1.00
R4704:Bdnf	UTSW	2	109723692	missense	possibly damaging	0.89
R5000:Bdnf	UTSW	2	109723648	missense	probably benign	0.01
R5259:Bdnf	UTSW	2	109723982	missense	probably benign	0.37
R5301:Bdnf	UTSW	2	109723539	missense	probably benign
R6344:Bdnf	UTSW	2	109723677	missense	probably benign	0.01
R7392:Bdnf	UTSW	2	109723930	missense	probably benign	0.01
X0028:Bdnf	UTSW	2	109723883	missense	possibly damaging	0.77
X0058:Bdnf	UTSW	2	109723637	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGACACTTTTGAGCACGTCATC -3'
(R):5'- CATTGCGAGTTCCAGTGCCTTTTG -3'

Sequencing Primer
(F):5'- TTTTGAGCACGTCATCGAAGAG -3'
(R):5'- GCAGCCTTCCTTGGTGTAAC -3'

Posted On

2014-04-24