Incidental Mutation 'R5526:Dtna'
ID 431889
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 043084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R5526 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 23548192-23792772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23779287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 623 (V623E)
Ref Sequence ENSEMBL: ENSMUSP00000152288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115832
AA Change: V559E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: V559E

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 noncoding transcript
Transcript: ENSMUST00000220789
Predicted Effect probably damaging
Transcript: ENSMUST00000220904
AA Change: V623E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,331,605 (GRCm39) M1315K probably benign Het
Abcc4 C T 14: 118,868,449 (GRCm39) V168I probably benign Het
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Angpt1 A G 15: 42,375,737 (GRCm39) L173P probably damaging Het
Crls1 T A 2: 132,703,165 (GRCm39) M205K possibly damaging Het
Cspg4b T C 13: 113,504,427 (GRCm39) V1852A probably benign Het
Dhtkd1 A T 2: 5,916,662 (GRCm39) N671K probably damaging Het
Dmbt1 A T 7: 130,642,920 (GRCm39) D246V probably damaging Het
Dolk G A 2: 30,175,820 (GRCm39) A75V probably damaging Het
Elavl3 T C 9: 21,947,622 (GRCm39) T106A probably benign Het
Ergic1 T C 17: 26,843,652 (GRCm39) C41R probably damaging Het
Fat2 T A 11: 55,160,187 (GRCm39) I3309F possibly damaging Het
Fbn1 C A 2: 125,207,559 (GRCm39) R978L possibly damaging Het
Fzd6 A T 15: 38,894,559 (GRCm39) S242C possibly damaging Het
Galntl6 T A 8: 58,926,004 (GRCm39) H87L probably benign Het
Gatad2a T C 8: 70,388,591 (GRCm39) E32G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm11541 G T 11: 94,594,944 (GRCm39) H41Q unknown Het
Has3 A G 8: 107,600,579 (GRCm39) T14A probably damaging Het
Kmt2b A G 7: 30,279,869 (GRCm39) L1377P probably damaging Het
Lcorl T C 5: 45,891,069 (GRCm39) N428S probably benign Het
Lipo5 A T 19: 33,445,284 (GRCm39) V95D unknown Het
Lrp1 A T 10: 127,391,593 (GRCm39) V2942D probably benign Het
Map1a T C 2: 121,136,143 (GRCm39) S2082P probably damaging Het
Mast4 T C 13: 102,890,723 (GRCm39) S852G possibly damaging Het
Mlh3 A T 12: 85,316,147 (GRCm39) L13* probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nlrp9c T A 7: 26,081,791 (GRCm39) N645I possibly damaging Het
Or12d17 T A 17: 37,778,003 (GRCm39) L302Q unknown Het
Or12e7 T C 2: 87,288,109 (GRCm39) I200T probably benign Het
Or14j7 T A 17: 38,235,383 (GRCm39) *309K probably null Het
Or7e166 C A 9: 19,624,994 (GRCm39) Y290* probably null Het
Or8g52 A T 9: 39,630,892 (GRCm39) Y123F possibly damaging Het
Pex12 A G 11: 83,187,090 (GRCm39) V286A possibly damaging Het
Phax C T 18: 56,717,382 (GRCm39) T275I probably damaging Het
Phf21b A G 15: 84,676,006 (GRCm39) V335A probably benign Het
Psg18 A T 7: 18,083,273 (GRCm39) L173H probably damaging Het
Rab3ip T C 10: 116,754,834 (GRCm39) T209A possibly damaging Het
Ralgapb T C 2: 158,274,705 (GRCm39) V202A probably damaging Het
Rpn2 T C 2: 157,165,187 (GRCm39) L611P probably damaging Het
Runx2 T G 17: 45,035,749 (GRCm39) T148P probably damaging Het
Sbpl C A 17: 24,173,623 (GRCm39) D50Y probably damaging Het
Scn5a G A 9: 119,350,237 (GRCm39) P879L probably damaging Het
Sfn T C 4: 133,328,915 (GRCm39) R56G probably damaging Het
Spata31g1 T C 4: 42,972,125 (GRCm39) V486A possibly damaging Het
Tas2r138 C T 6: 40,589,914 (GRCm39) A111T probably benign Het
Tasp1 A T 2: 139,850,709 (GRCm39) S105T probably damaging Het
Tmem225 T G 9: 40,062,002 (GRCm39) H205Q possibly damaging Het
Tmprss7 A G 16: 45,481,267 (GRCm39) S640P probably damaging Het
Utp4 G A 8: 107,644,265 (GRCm39) A535T possibly damaging Het
Vmn1r203 A T 13: 22,708,273 (GRCm39) D18V probably benign Het
Vmn2r58 A G 7: 41,522,069 (GRCm39) L9P probably benign Het
Zcchc2 T A 1: 105,957,984 (GRCm39) C420* probably null Het
Zfp804a A G 2: 82,088,934 (GRCm39) D921G 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
R5194:Dtna UTSW 18 23,723,302 (GRCm39) nonsense probably null
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
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 2016-10-05