Mutagenetix > Incidental Mutation

Incidental Mutation 'R6272:Dbn1'

507417

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin E2, drebrin A

MMRRC Submission

044442-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R6272 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

55621242-55635924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55622917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 522 (A522V)

Ref Sequence

ENSEMBL: ENSMUSP00000105549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021950] [ENSMUST00000046533] [ENSMUST00000109921] [ENSMUST00000109923]

AlphaFold

Q9QXS6

Predicted Effect

probably benign
Transcript: ENSMUST00000021950
AA Change: A568V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: A568V

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	453	473	N/A	INTRINSIC
low complexity region	477	498	N/A	INTRINSIC
low complexity region	502	518	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC
low complexity region	655	668	N/A	INTRINSIC
low complexity region	697	705	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046533

SMART Domains

Protein: ENSMUSP00000046776
Gene: ENSMUSG00000034686

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
low complexity region	63	131	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109921
AA Change: A522V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: A522V

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	407	427	N/A	INTRINSIC
low complexity region	431	452	N/A	INTRINSIC
low complexity region	456	472	N/A	INTRINSIC
low complexity region	573	591	N/A	INTRINSIC
low complexity region	610	623	N/A	INTRINSIC
low complexity region	652	660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109923
AA Change: A522V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: A522V

Domain	Start	End	E-Value	Type
ADF	8	134	2.34e-25	SMART
coiled coil region	176	256	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	407	427	N/A	INTRINSIC
low complexity region	431	452	N/A	INTRINSIC
low complexity region	456	472	N/A	INTRINSIC
low complexity region	573	591	N/A	INTRINSIC
low complexity region	609	622	N/A	INTRINSIC
low complexity region	651	659	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183653

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired cued conditioning behavior. Mice homozygous for a different knock-out allele show altered neurotransmitter receptor levels in protein complexes, abnormal dendritic spine morphology, and impaired synaptic plasticity in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,762,889 (GRCm39)	I189V	noncoding transcript	Het
Ampd1	A	G	3: 102,992,699 (GRCm39)	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,468,415 (GRCm39)	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,522,711 (GRCm39)	D438E	probably benign	Het
Atxn1	T	A	13: 45,721,238 (GRCm39)	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,509,333 (GRCm39)	D269E	probably benign	Het
Cryab	A	G	9: 50,665,825 (GRCm39)	K72R	possibly damaging	Het
Dip2a	A	T	10: 76,122,241 (GRCm39)	*158R	probably null	Het
Edrf1	C	T	7: 133,239,537 (GRCm39)		probably benign	Het
Ern2	A	T	7: 121,775,869 (GRCm39)	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,433,150 (GRCm39)	S78P	probably damaging	Het
Fah	C	A	7: 84,244,753 (GRCm39)	G137C	probably damaging	Het
Foxd3	A	G	4: 99,544,977 (GRCm39)	D39G	probably damaging	Het
Gprin3	G	A	6: 59,330,316 (GRCm39)	Q664*	probably null	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
H3c6	A	T	13: 23,746,400 (GRCm39)	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,037,627 (GRCm39)	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kynu	A	T	2: 43,525,001 (GRCm39)	N315Y	probably benign	Het
Map1lc3b	G	A	8: 122,323,429 (GRCm39)	E100K	probably benign	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,806,419 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,512,940 (GRCm39)	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,400,253 (GRCm39)	D493G	probably benign	Het
Nup210l	A	G	3: 90,077,331 (GRCm39)	E889G	possibly damaging	Het
Or13l2	A	G	3: 97,318,207 (GRCm39)	F97L	probably benign	Het
Or14c42-ps1	A	G	7: 86,211,081 (GRCm39)	Y47C	unknown	Het
Or2y13	C	A	11: 49,414,953 (GRCm39)	S134R	possibly damaging	Het
Or5ac25	A	C	16: 59,181,948 (GRCm39)	M211R	possibly damaging	Het
Or5w20	G	A	2: 87,727,001 (GRCm39)	V153I	probably benign	Het
Or6k2	C	T	1: 173,986,741 (GRCm39)	T134I	probably benign	Het
Or8g4	A	T	9: 39,661,816 (GRCm39)	M45L	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phc2	A	G	4: 128,603,440 (GRCm39)	Y190C	probably damaging	Het
Platr25	T	C	13: 62,820,811 (GRCm39)	T347A	possibly damaging	Het
Plec	T	C	15: 76,059,053 (GRCm39)	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,623,619 (GRCm39)	Q954L	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prdm4	G	A	10: 85,743,694 (GRCm39)	T187I	possibly damaging	Het
Prg4	T	C	1: 150,330,517 (GRCm39)		probably benign	Het
Prpf18	G	A	2: 4,638,258 (GRCm39)	R312W	probably damaging	Het
Rnf213	T	A	11: 119,305,374 (GRCm39)	V535D	probably damaging	Het
Rtcb	A	T	10: 85,791,638 (GRCm39)	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,531,341 (GRCm39)		probably null	Het
Szt2	A	C	4: 118,231,487 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tfap2e	A	T	4: 126,615,657 (GRCm39)	V259D	probably damaging	Het
Trav19	A	G	14: 54,083,255 (GRCm39)	D110G	probably damaging	Het
Ttc17	A	C	2: 94,189,100 (GRCm39)	C749W	probably damaging	Het
Ttc8	A	G	12: 98,948,753 (GRCm39)	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,471,590 (GRCm39)	S99P	probably damaging	Het
Ubqln3	C	T	7: 103,791,385 (GRCm39)	R235H	probably damaging	Het
Vmn2r61	A	T	7: 41,949,242 (GRCm39)	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,208,194 (GRCm39)	V761E	probably damaging	Het
Vmn2r97	T	C	17: 19,167,861 (GRCm39)	I705T	possibly damaging	Het
Wwox	G	A	8: 115,215,692 (GRCm39)	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,842,325 (GRCm39)		probably benign	Het
Zfp582	C	T	7: 6,356,844 (GRCm39)	P219L	probably damaging	Het

Other mutations in Dbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Dbn1	APN	13	55,630,002 (GRCm39)	missense	probably damaging	1.00
IGL01408:Dbn1	APN	13	55,630,117 (GRCm39)	splice site	probably benign
IGL02123:Dbn1	APN	13	55,624,553 (GRCm39)	missense	possibly damaging	0.82
R0026:Dbn1	UTSW	13	55,625,597 (GRCm39)	missense	probably damaging	1.00
R0318:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0319:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0400:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0417:Dbn1	UTSW	13	55,622,729 (GRCm39)	missense	probably damaging	1.00
R0765:Dbn1	UTSW	13	55,630,107 (GRCm39)	missense	probably damaging	1.00
R0905:Dbn1	UTSW	13	55,622,040 (GRCm39)	unclassified	probably benign
R1695:Dbn1	UTSW	13	55,624,521 (GRCm39)	missense	probably benign	0.01
R1844:Dbn1	UTSW	13	55,629,160 (GRCm39)	critical splice donor site	probably null
R1997:Dbn1	UTSW	13	55,630,254 (GRCm39)	missense	probably damaging	1.00
R2912:Dbn1	UTSW	13	55,630,234 (GRCm39)	missense	probably damaging	0.97
R2914:Dbn1	UTSW	13	55,630,234 (GRCm39)	missense	probably damaging	0.97
R4398:Dbn1	UTSW	13	55,623,194 (GRCm39)	missense	probably benign	0.05
R4477:Dbn1	UTSW	13	55,629,374 (GRCm39)	small deletion	probably benign
R4515:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4518:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4519:Dbn1	UTSW	13	55,624,042 (GRCm39)	missense	possibly damaging	0.64
R4678:Dbn1	UTSW	13	55,623,071 (GRCm39)	missense	probably benign
R4886:Dbn1	UTSW	13	55,625,355 (GRCm39)	unclassified	probably benign
R6741:Dbn1	UTSW	13	55,629,350 (GRCm39)	critical splice donor site	probably null
R7840:Dbn1	UTSW	13	55,623,322 (GRCm39)	missense	possibly damaging	0.94
R8339:Dbn1	UTSW	13	55,629,982 (GRCm39)	missense	probably benign	0.43
R9329:Dbn1	UTSW	13	55,631,241 (GRCm39)	missense	probably damaging	1.00
R9386:Dbn1	UTSW	13	55,629,760 (GRCm39)	missense	probably damaging	0.99
R9388:Dbn1	UTSW	13	55,624,088 (GRCm39)	missense	probably benign	0.02
R9588:Dbn1	UTSW	13	55,622,785 (GRCm39)	missense	probably benign
R9741:Dbn1	UTSW	13	55,624,114 (GRCm39)	missense	possibly damaging	0.95
R9762:Dbn1	UTSW	13	55,622,824 (GRCm39)	missense	probably damaging	0.99
R9777:Dbn1	UTSW	13	55,625,639 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCTCCATTGGTCAGCAGGTG -3'
(R):5'- CAGCTGACACCATTGAGACC -3'

Sequencing Primer
(F):5'- TGAGGTTCTGGCTCCAGCTC -3'
(R):5'- TGACACCATTGAGACCACCACTG -3'

Posted On

2018-03-15