Incidental Mutation 'R5194:Dtna'
ID 400034
Institutional Source Beutler Lab
Gene Symbol Dtna
Ensembl Gene ENSMUSG00000024302
Gene Name dystrobrevin alpha
Synonyms a-DB-1, A0, alpha-dystrobrevin, 2210407P21Rik, 87K protein, Dtn, adbn
MMRRC Submission 042770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R5194 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 23548192-23792772 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 23723302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 169 (Q169*)
Ref Sequence ENSEMBL: ENSMUSP00000152565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047954] [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000047954
AA Change: Q169*
SMART Domains Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: Q169*

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 null
Transcript: ENSMUST00000115832
AA Change: Q169*
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: Q169*

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 null
Transcript: ENSMUST00000220904
AA Change: Q169*
Predicted Effect probably null
Transcript: ENSMUST00000221880
AA Change: Q169*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,348,059 (GRCm39) N82D probably benign Het
Aadacl4fm2 A G 4: 144,281,652 (GRCm39) V380A probably benign Het
Acadm C T 3: 153,638,755 (GRCm39) R206H possibly damaging Het
Acly T A 11: 100,414,372 (GRCm39) Y18F probably benign Het
Acnat2 G T 4: 49,380,452 (GRCm39) Q291K probably benign Het
Agtpbp1 T C 13: 59,648,453 (GRCm39) I456V probably benign Het
Ankrd7 A G 6: 18,868,076 (GRCm39) N114S possibly damaging Het
Arfgef1 A T 1: 10,275,132 (GRCm39) L307I probably benign Het
Arhgef2 A T 3: 88,542,956 (GRCm39) I383F probably damaging Het
Cbs C T 17: 31,843,198 (GRCm39) probably null Het
Cep135 T C 5: 76,763,624 (GRCm39) V538A probably benign Het
Dennd5a T C 7: 109,532,936 (GRCm39) E254G probably damaging Het
Drc7 T C 8: 95,788,345 (GRCm39) V236A probably benign Het
Egfem1 G A 3: 29,411,345 (GRCm39) probably null Het
Eif2ak3 T C 6: 70,835,462 (GRCm39) S130P possibly damaging Het
Ewsr1 T C 11: 5,032,355 (GRCm39) N297S unknown Het
F13a1 T G 13: 37,156,037 (GRCm39) D192A probably damaging Het
Fam120a A G 13: 49,034,411 (GRCm39) V1067A probably benign Het
Gm17490 T C 2: 11,631,062 (GRCm39) Y5C unknown Het
Gm57859 T C 11: 113,579,654 (GRCm39) S350P possibly damaging Het
Gm8587 C T 12: 88,056,556 (GRCm39) noncoding transcript Het
H2-Ab1 C T 17: 34,488,352 (GRCm39) probably benign Het
Hoxd12 T C 2: 74,505,447 (GRCm39) L6P probably damaging Het
Ifi204 C T 1: 173,576,910 (GRCm39) D564N possibly damaging Het
Irak2 T C 6: 113,667,751 (GRCm39) V444A probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrba A C 3: 86,235,526 (GRCm39) N877H probably damaging Het
Mylk3 T C 8: 86,079,495 (GRCm39) I388V probably benign Het
Myo9b C T 8: 71,801,733 (GRCm39) A1286V probably benign Het
Myt1l A C 12: 29,861,647 (GRCm39) D143A unknown Het
Ngfr T C 11: 95,471,808 (GRCm39) N63S probably benign Het
Or2ag16 A T 7: 106,352,426 (GRCm39) H56Q probably benign Het
Or4c3 T A 2: 89,851,870 (GRCm39) Y180F probably damaging Het
Or51a7 A G 7: 102,615,071 (GRCm39) I255V probably benign Het
Or6c70 C T 10: 129,709,967 (GRCm39) V220I probably benign Het
Or6z6 A G 7: 6,491,519 (GRCm39) L118P probably damaging Het
P2rx7 T C 5: 122,811,858 (GRCm39) S390P probably benign Het
Pcdhga4 A C 18: 37,820,794 (GRCm39) Q781P probably benign Het
Phip G A 9: 82,790,915 (GRCm39) S677F probably benign Het
Ptpdc1 C A 13: 48,740,265 (GRCm39) V389F possibly damaging Het
Rab2a T A 4: 8,604,381 (GRCm39) I161N probably benign Het
Rnf113a2 T A 12: 84,464,111 (GRCm39) M1K probably null Het
Schip1 T C 3: 68,402,205 (GRCm39) V122A probably benign Het
Sdr16c5 C A 4: 4,006,663 (GRCm39) A210S probably benign Het
Sh3bp1 A G 15: 78,787,301 (GRCm39) K83E probably damaging Het
Sipa1l2 T C 8: 126,166,012 (GRCm39) S1541G possibly damaging Het
Slc22a21 T C 11: 53,870,673 (GRCm39) Y4C probably damaging Het
Smco1 C T 16: 32,092,592 (GRCm39) H88Y probably damaging Het
Tll2 T C 19: 41,084,336 (GRCm39) D697G probably damaging Het
Trim34a A G 7: 103,910,200 (GRCm39) N334S possibly damaging Het
Ubqln1 A G 13: 58,346,847 (GRCm39) I64T probably benign Het
Vstm2b T A 7: 40,551,912 (GRCm39) probably null Het
Wdr17 A G 8: 55,140,639 (GRCm39) F238L probably damaging Het
Wiz T C 17: 32,596,822 (GRCm39) probably benign Het
Zfp407 T C 18: 84,579,434 (GRCm39) S560G probably benign Het
Other mutations in Dtna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Dtna APN 18 23,730,545 (GRCm39) missense probably benign 0.22
IGL01620:Dtna APN 18 23,758,144 (GRCm39) missense probably damaging 1.00
IGL01705:Dtna APN 18 23,678,788 (GRCm39) missense probably damaging 1.00
IGL01914:Dtna APN 18 23,730,516 (GRCm39) missense possibly damaging 0.62
IGL02388:Dtna APN 18 23,730,571 (GRCm39) missense probably benign 0.00
IGL02427:Dtna APN 18 23,784,595 (GRCm39) missense possibly damaging 0.95
IGL03074:Dtna APN 18 23,735,662 (GRCm39) missense possibly damaging 0.74
R0041:Dtna UTSW 18 23,779,932 (GRCm39) unclassified probably benign
R0041:Dtna UTSW 18 23,779,932 (GRCm39) unclassified probably benign
R0078:Dtna UTSW 18 23,754,499 (GRCm39) missense probably damaging 1.00
R0390:Dtna UTSW 18 23,730,558 (GRCm39) missense probably damaging 1.00
R1808:Dtna UTSW 18 23,702,697 (GRCm39) missense probably damaging 1.00
R1872:Dtna UTSW 18 23,730,617 (GRCm39) critical splice donor site probably null
R2095:Dtna UTSW 18 23,702,805 (GRCm39) missense probably damaging 1.00
R2216:Dtna UTSW 18 23,702,622 (GRCm39) missense probably damaging 1.00
R2295:Dtna UTSW 18 23,764,469 (GRCm39) missense probably damaging 1.00
R2402:Dtna UTSW 18 23,728,535 (GRCm39) nonsense probably null
R2846:Dtna UTSW 18 23,784,560 (GRCm39) splice site probably null
R3836:Dtna UTSW 18 23,758,159 (GRCm39) missense probably damaging 1.00
R4764:Dtna UTSW 18 23,668,206 (GRCm39) splice site probably null
R4893:Dtna UTSW 18 23,702,724 (GRCm39) missense probably damaging 0.99
R5373:Dtna UTSW 18 23,784,670 (GRCm39) missense probably damaging 1.00
R5374:Dtna UTSW 18 23,784,670 (GRCm39) missense probably damaging 1.00
R5526:Dtna UTSW 18 23,779,287 (GRCm39) missense probably damaging 0.99
R5755:Dtna UTSW 18 23,754,520 (GRCm39) missense probably benign
R5769:Dtna UTSW 18 23,784,611 (GRCm39) missense probably benign 0.27
R6062:Dtna UTSW 18 23,755,113 (GRCm39) missense possibly damaging 0.87
R6413:Dtna UTSW 18 23,755,071 (GRCm39) missense probably damaging 1.00
R6876:Dtna UTSW 18 23,744,167 (GRCm39) missense probably benign 0.00
R7103:Dtna UTSW 18 23,786,436 (GRCm39) critical splice donor site probably null
R7711:Dtna UTSW 18 23,758,253 (GRCm39) critical splice donor site probably null
R7804:Dtna UTSW 18 23,728,666 (GRCm39) missense probably damaging 0.97
R8156:Dtna UTSW 18 23,723,388 (GRCm39) nonsense probably null
R8437:Dtna UTSW 18 23,723,398 (GRCm39) nonsense probably null
R8786:Dtna UTSW 18 23,716,190 (GRCm39) missense probably benign 0.10
R9038:Dtna UTSW 18 23,743,553 (GRCm39) missense probably benign
R9268:Dtna UTSW 18 23,702,643 (GRCm39) missense possibly damaging 0.93
R9416:Dtna UTSW 18 23,780,112 (GRCm39) critical splice donor site probably null
R9578:Dtna UTSW 18 23,728,612 (GRCm39) missense probably damaging 0.98
R9605:Dtna UTSW 18 23,764,454 (GRCm39) missense probably damaging 1.00
R9638:Dtna UTSW 18 23,744,122 (GRCm39) missense probably benign
X0063:Dtna UTSW 18 23,776,225 (GRCm39) missense probably damaging 0.98
X0066:Dtna UTSW 18 23,726,038 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06