Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Dtna'

241188

Institutional Source

Beutler Lab

Gene Symbol

Dtna

Ensembl Gene

ENSMUSG00000024302

Gene Name

dystrobrevin alpha

Synonyms

alpha-dystrobrevin, adbn, Dtn, a-DB-1, A0, 87K protein, 2210407P21Rik

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23415135-23659715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23569565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 51 (H51R)

Ref Sequence

ENSEMBL: ENSMUSP00000152288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047954] [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047954
AA Change: H51R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: H51R

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	4.9e-43	PFAM
Pfam:EF-hand_3	144	232	7.8e-38	PFAM
ZnF_ZZ	237	282	1.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115832
AA Change: H51R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: H51R

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	16	140	1.7e-37	PFAM
Pfam:EF-hand_3	144	232	1.6e-32	PFAM
ZnF_ZZ	237	282	1.29e-17	SMART
SCOP:d1eq1a_	361	494	5e-3	SMART
low complexity region	499	514	N/A	INTRINSIC
coiled coil region	650	677	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000220904
AA Change: H51R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221880
AA Change: H51R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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 belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly damaging	Het

Other mutations in Dtna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Dtna	APN	18	23597488	missense	probably benign	0.22
IGL01620:Dtna	APN	18	23625087	missense	probably damaging	1.00
IGL01705:Dtna	APN	18	23545731	missense	probably damaging	1.00
IGL01914:Dtna	APN	18	23597459	missense	possibly damaging	0.62
IGL02388:Dtna	APN	18	23597514	missense	probably benign	0.00
IGL02427:Dtna	APN	18	23651538	missense	possibly damaging	0.95
IGL03074:Dtna	APN	18	23602605	missense	possibly damaging	0.74
R0041:Dtna	UTSW	18	23646875	unclassified	probably benign
R0041:Dtna	UTSW	18	23646875	unclassified	probably benign
R0078:Dtna	UTSW	18	23621442	missense	probably damaging	1.00
R0390:Dtna	UTSW	18	23597501	missense	probably damaging	1.00
R1808:Dtna	UTSW	18	23569640	missense	probably damaging	1.00
R1872:Dtna	UTSW	18	23597560	critical splice donor site	probably null
R2095:Dtna	UTSW	18	23569748	missense	probably damaging	1.00
R2295:Dtna	UTSW	18	23631412	missense	probably damaging	1.00
R2402:Dtna	UTSW	18	23595478	nonsense	probably null
R2846:Dtna	UTSW	18	23651503	splice site	probably null
R3836:Dtna	UTSW	18	23625102	missense	probably damaging	1.00
R4764:Dtna	UTSW	18	23535149	splice site	probably null
R4893:Dtna	UTSW	18	23569667	missense	probably damaging	0.99
R5194:Dtna	UTSW	18	23590245	nonsense	probably null
R5373:Dtna	UTSW	18	23651613	missense	probably damaging	1.00
R5374:Dtna	UTSW	18	23651613	missense	probably damaging	1.00
R5526:Dtna	UTSW	18	23646230	missense	probably damaging	0.99
R5755:Dtna	UTSW	18	23621463	missense	probably benign
R5769:Dtna	UTSW	18	23651554	missense	probably benign	0.27
R6062:Dtna	UTSW	18	23622056	missense	possibly damaging	0.87
R6413:Dtna	UTSW	18	23622014	missense	probably damaging	1.00
R6876:Dtna	UTSW	18	23611110	missense	probably benign	0.00
R7103:Dtna	UTSW	18	23653379	critical splice donor site	probably null
R7711:Dtna	UTSW	18	23625196	critical splice donor site	probably null
R7804:Dtna	UTSW	18	23595609	missense	probably damaging	0.97
R8156:Dtna	UTSW	18	23590331	nonsense	probably null
R8437:Dtna	UTSW	18	23590341	nonsense	probably null
R8786:Dtna	UTSW	18	23583133	missense	probably benign	0.10
R9038:Dtna	UTSW	18	23610496	missense	probably benign
R9268:Dtna	UTSW	18	23569586	missense	possibly damaging	0.93
R9416:Dtna	UTSW	18	23647055	critical splice donor site	probably null
R9578:Dtna	UTSW	18	23595555	missense	probably damaging	0.98
R9605:Dtna	UTSW	18	23631397	missense	probably damaging	1.00
R9638:Dtna	UTSW	18	23611065	missense	probably benign
X0063:Dtna	UTSW	18	23643168	missense	probably damaging	0.98
X0066:Dtna	UTSW	18	23592981	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGGATGATGGTCTTCAAGCCC -3'
(R):5'- AGTCATTGACAGTCACAGGGG -3'

Sequencing Primer
(F):5'- ATGGTCTTCAAGCCCTGGGG -3'
(R):5'- CTGCGAGCAGGAAGTTCAGC -3'

Posted On

2014-10-15