Mutagenetix > Incidental Mutation

Incidental Mutation 'R9777:Dbn1'

733806

Institutional Source

Beutler Lab

Gene Symbol

Dbn1

Ensembl Gene

ENSMUSG00000034675

Gene Name

drebrin 1

Synonyms

drebrin E2, drebrin A

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R9777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55621242-55635924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55625639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 261 (R261L)

Ref Sequence

ENSEMBL: ENSMUSP00000021950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021950] [ENSMUST00000046533] [ENSMUST00000109921] [ENSMUST00000109923] [ENSMUST00000139275]

AlphaFold

Q9QXS6

Predicted Effect

probably benign
Transcript: ENSMUST00000021950
AA Change: R261L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021950
Gene: ENSMUSG00000034675
AA Change: R261L

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: R261L

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105547
Gene: ENSMUSG00000034675
AA Change: R261L

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: R261L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105549
Gene: ENSMUSG00000034675
AA Change: R261L

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

probably benign
Transcript: ENSMUST00000139275

SMART Domains

Protein: ENSMUSP00000122574
Gene: ENSMUSG00000034675

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	C	10: 10,283,214 (GRCm39)	M164R	possibly damaging	Het
Alg10b	T	A	15: 90,111,656 (GRCm39)	C167S	probably benign	Het
Ap2m1	C	A	16: 20,358,113 (GRCm39)	R44S	probably damaging	Het
Atrip	T	C	9: 108,902,964 (GRCm39)	S37G	probably benign	Het
Bicra	C	T	7: 15,705,987 (GRCm39)	V1485M	probably benign	Het
Brca2	C	T	5: 150,480,579 (GRCm39)	T2755I	probably damaging	Het
C1qtnf7	A	T	5: 43,673,313 (GRCm39)		probably benign	Het
Ccdc7a	C	T	8: 129,618,860 (GRCm39)	A895T	possibly damaging	Het
Cep290	T	C	10: 100,354,529 (GRCm39)	M871T	probably benign	Het
Col19a1	A	G	1: 24,318,904 (GRCm39)	V1062A	unknown	Het
Col24a1	T	A	3: 145,021,103 (GRCm39)	Y491*	probably null	Het
Cyp2c66	A	T	19: 39,102,520 (GRCm39)	I50F	probably benign	Het
Dlat	G	A	9: 50,562,208 (GRCm39)	A272V	probably damaging	Het
Dlgap3	A	T	4: 127,130,127 (GRCm39)	E967V	possibly damaging	Het
Dnhd1	A	G	7: 105,369,456 (GRCm39)	M4360V	probably benign	Het
Dock7	C	T	4: 98,877,464 (GRCm39)	R1058Q	unknown	Het
Dpp4	T	A	2: 62,195,340 (GRCm39)	I313F	probably benign	Het
Dus1l	C	T	11: 120,683,858 (GRCm39)	V197I	possibly damaging	Het
Eef2k	TATTCATTCATTCATTCATTCATTCATTCA	TATTCATTCATTCATTCATTCATTCA	7: 120,499,453 (GRCm39)		probably benign	Het
Fat3	A	G	9: 15,826,537 (GRCm39)	S324P	probably benign	Het
Fkbp9	C	T	6: 56,855,181 (GRCm39)	H567Y	possibly damaging	Het
Galnt10	C	A	11: 57,672,065 (GRCm39)	P452T	probably damaging	Het
Glb1	A	T	9: 114,246,084 (GRCm39)	D45V	probably damaging	Het
Grm1	A	T	10: 10,573,826 (GRCm39)	V904E	possibly damaging	Het
Gsdma3	T	G	11: 98,526,071 (GRCm39)	V274G	probably damaging	Het
Gsn	A	G	2: 35,194,600 (GRCm39)	E681G	probably damaging	Het
Hpdl	A	G	4: 116,678,062 (GRCm39)	L133P	probably damaging	Het
Ighv1-75	A	G	12: 115,797,655 (GRCm39)	L89P	probably damaging	Het
Igsf21	T	A	4: 139,755,407 (GRCm39)	Q416L	probably damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Ildr1	A	G	16: 36,528,659 (GRCm39)	T35A	probably benign	Het
Ints13	G	T	6: 146,463,326 (GRCm39)	H235Q	probably damaging	Het
Lama4	C	T	10: 38,924,101 (GRCm39)	T503I	probably benign	Het
Mapk13	T	A	17: 28,997,075 (GRCm39)	L289Q	probably damaging	Het
Med13l	T	C	5: 118,887,024 (GRCm39)	S1642P	probably benign	Het
Megf6	T	A	4: 154,343,617 (GRCm39)	S713R	probably damaging	Het
Mical3	A	G	6: 120,959,529 (GRCm39)	V922A	possibly damaging	Het
Mug1	C	T	6: 121,857,864 (GRCm39)	T1119M	probably damaging	Het
Myo18a	T	A	11: 77,733,080 (GRCm39)	M1370K	possibly damaging	Het
Ndufa12	A	G	10: 94,056,692 (GRCm39)	E140G	probably damaging	Het
Nek4	T	A	14: 30,706,401 (GRCm39)	D696E	probably benign	Het
Oas1f	A	G	5: 120,994,429 (GRCm39)	T317A	probably benign	Het
Or14c39	T	C	7: 86,343,988 (GRCm39)	V108A	probably benign	Het
Or2r11	A	G	6: 42,437,029 (GRCm39)	I308T	probably benign	Het
Or6c210	T	C	10: 129,495,705 (GRCm39)	I10T	probably benign	Het
Pcdh17	C	T	14: 84,683,683 (GRCm39)	P50L	probably benign	Het
Pgs1	A	G	11: 117,894,256 (GRCm39)	E261G	probably benign	Het
Pira12	T	G	7: 3,897,612 (GRCm39)	R494S	probably damaging	Het
Ppp1r1a	T	C	15: 103,439,857 (GRCm39)	E145G	possibly damaging	Het
Ppp1r37	T	C	7: 19,295,783 (GRCm39)	E58G	probably benign	Het
Ptprc	A	T	1: 138,047,901 (GRCm39)	V77E		Het
Rhag	A	G	17: 41,139,416 (GRCm39)	E117G	probably benign	Het
Sh3d19	C	T	3: 86,028,483 (GRCm39)	S653L	probably benign	Het
Sirpd	C	A	3: 15,385,813 (GRCm39)	E30*	probably null	Het
Slc35a5	C	T	16: 44,972,939 (GRCm39)		probably null	Het
Smc4	C	T	3: 68,929,655 (GRCm39)	R510*	probably null	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sp140	A	G	1: 85,569,461 (GRCm39)	N357S	probably damaging	Het
Spic	T	A	10: 88,514,421 (GRCm39)	T60S	possibly damaging	Het
Steap1	C	A	5: 5,786,517 (GRCm39)	A307S	probably benign	Het
Stk3	A	T	15: 35,114,791 (GRCm39)	S40R	probably damaging	Het
Taar1	T	C	10: 23,796,676 (GRCm39)	C125R	probably damaging	Het
Tep1	T	A	14: 51,076,443 (GRCm39)	K1664*	probably null	Het
Tmem198b	C	A	10: 128,638,273 (GRCm39)	V97L	possibly damaging	Het
Xirp2	C	A	2: 67,347,379 (GRCm39)	P3207T	possibly damaging	Het
Zbtb38	C	G	9: 96,570,355 (GRCm39)	S243T	possibly damaging	Het
Zbtb38	T	A	9: 96,570,356 (GRCm39)	S243C	probably damaging	Het
Zfp692	C	T	11: 58,199,638 (GRCm39)	R76W	probably benign	Het
Zwilch	A	T	9: 64,054,170 (GRCm39)	L509H	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
R6272:Dbn1	UTSW	13	55,622,917 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- ACTCGTTCCTGCTGTCTGAAG -3'
(R):5'- TGGGACGTAGATGAATCAGC -3'

Sequencing Primer
(F):5'- CTGAAGAACTCCCGTGGGTTATCAG -3'
(R):5'- CGTAGATGAATCAGCGGCTC -3'

Posted On

2022-11-14