Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Dbn1'

224407

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin A, drebrin E2

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R1997 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

55473429-55488111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55482441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 38 (H38R)

Ref Sequence

ENSEMBL: ENSMUSP00000122574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021950] [ENSMUST00000109921] [ENSMUST00000109923] [ENSMUST00000139275]

AlphaFold

Q9QXS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021950
AA Change: H101R

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

SMART Domains

Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: H101R

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 damaging
Transcript: ENSMUST00000109921
AA Change: H101R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: H101R

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 damaging
Transcript: ENSMUST00000109923
AA Change: H101R

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

SMART Domains

Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: H101R

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: ENSMUST00000124480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135705

Predicted Effect

probably damaging
Transcript: ENSMUST00000139275
AA Change: H38R

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

SMART Domains

Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675
AA Change: H38R

Domain	Start	End	E-Value	Type
Pfam:Cofilin_ADF	1	71	9.1e-14	PFAM
coiled coil region	113	169	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183653

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Dbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Dbn1	APN	13	55482189	missense	probably damaging	1.00
IGL01408:Dbn1	APN	13	55482304	splice site	probably benign
IGL02123:Dbn1	APN	13	55476740	missense	possibly damaging	0.82
R0026:Dbn1	UTSW	13	55477784	missense	probably damaging	1.00
R0318:Dbn1	UTSW	13	55474916	missense	probably damaging	1.00
R0319:Dbn1	UTSW	13	55474916	missense	probably damaging	1.00
R0400:Dbn1	UTSW	13	55474916	missense	probably damaging	1.00
R0417:Dbn1	UTSW	13	55474916	missense	probably damaging	1.00
R0765:Dbn1	UTSW	13	55482294	missense	probably damaging	1.00
R0905:Dbn1	UTSW	13	55474227	unclassified	probably benign
R1695:Dbn1	UTSW	13	55476708	missense	probably benign	0.01
R1844:Dbn1	UTSW	13	55481347	critical splice donor site	probably null
R2912:Dbn1	UTSW	13	55482421	missense	probably damaging	0.97
R2914:Dbn1	UTSW	13	55482421	missense	probably damaging	0.97
R4398:Dbn1	UTSW	13	55475381	missense	probably benign	0.05
R4477:Dbn1	UTSW	13	55481561	small deletion	probably benign
R4515:Dbn1	UTSW	13	55476229	missense	possibly damaging	0.64
R4518:Dbn1	UTSW	13	55476229	missense	possibly damaging	0.64
R4519:Dbn1	UTSW	13	55476229	missense	possibly damaging	0.64
R4678:Dbn1	UTSW	13	55475258	missense	probably benign
R4886:Dbn1	UTSW	13	55477542	unclassified	probably benign
R6272:Dbn1	UTSW	13	55475104	missense	probably benign	0.00
R6741:Dbn1	UTSW	13	55481537	critical splice donor site	probably null
R7840:Dbn1	UTSW	13	55475509	missense	possibly damaging	0.94
R8339:Dbn1	UTSW	13	55482169	missense	probably benign	0.43
R9329:Dbn1	UTSW	13	55483428	missense	probably damaging	1.00
R9386:Dbn1	UTSW	13	55481947	missense	probably damaging	0.99
R9388:Dbn1	UTSW	13	55476275	missense	probably benign	0.02
R9588:Dbn1	UTSW	13	55474972	missense	probably benign
R9741:Dbn1	UTSW	13	55476301	missense	possibly damaging	0.95
R9762:Dbn1	UTSW	13	55475011	missense	probably damaging	0.99
R9777:Dbn1	UTSW	13	55477826	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGCAATACTGGGCTGGAGAG -3'
(R):5'- AAGCCTACACTAGTTCTTGGGAAG -3'

Sequencing Primer
(F):5'- ATGGCACCAGCATCGATGTC -3'
(R):5'- CACTAGTTCTTGGGAAGATAGCC -3'

Posted On

2014-08-25