Incidental Mutation 'R5374:Dtna'
ID 428974
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 042950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5374 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 23415135-23659715 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23651613 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 730 (Y730H)
Ref Sequence ENSEMBL: ENSMUSP00000152288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000222726]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115832
AA Change: Y666H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: Y666H

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: Y730H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000222726
AA Change: Y16H
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (81/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,067,635 (GRCm38) S862G probably benign Het
2410089E03Rik T C 15: 8,270,803 (GRCm38) V3198A unknown Het
Adgrf1 G A 17: 43,291,005 (GRCm38) probably benign Het
Adss T G 1: 177,796,388 (GRCm38) I3L probably benign Het
Anapc7 T A 5: 122,438,217 (GRCm38) D302E probably benign Het
Ank3 A G 10: 69,953,476 (GRCm38) probably null Het
Astn2 A C 4: 65,397,005 (GRCm38) V1145G probably damaging Het
Babam2 C T 5: 32,007,230 (GRCm38) probably benign Het
Blvrb A G 7: 27,465,846 (GRCm38) H238R possibly damaging Het
Cacna1b C T 2: 24,706,216 (GRCm38) V488I probably damaging Het
Ccdc88a C T 11: 29,463,409 (GRCm38) T649M possibly damaging Het
Cdh12 A C 15: 21,583,912 (GRCm38) S613R probably damaging Het
Cisd2 A G 3: 135,408,835 (GRCm38) V125A probably benign Het
Clcn2 C A 16: 20,709,669 (GRCm38) G478W possibly damaging Het
Cntnap2 T A 6: 47,107,969 (GRCm38) H1121Q probably benign Het
Corin A T 5: 72,304,953 (GRCm38) C876S probably damaging Het
Cox7c T C 13: 86,046,620 (GRCm38) Y19C probably benign Het
Cspp1 T G 1: 10,134,126 (GRCm38) L1038R probably damaging Het
Cwc15 A G 9: 14,504,938 (GRCm38) K147E possibly damaging Het
Dlgap2 A G 8: 14,823,614 (GRCm38) D739G probably benign Het
Dmxl2 A G 9: 54,369,189 (GRCm38) probably benign Het
Dock5 A G 14: 67,805,756 (GRCm38) V864A possibly damaging Het
Dock7 A G 4: 98,989,038 (GRCm38) F1088L possibly damaging Het
Dpysl3 T C 18: 43,361,036 (GRCm38) Y193C probably damaging Het
Dusp3 A G 11: 101,984,625 (GRCm38) Y38H possibly damaging Het
Eif3m A T 2: 105,012,932 (GRCm38) I151N probably damaging Het
Entpd2 C T 2: 25,399,726 (GRCm38) T380I probably damaging Het
Epb41l3 C A 17: 69,286,800 (GRCm38) H810N probably damaging Het
Fcrl5 A G 3: 87,446,391 (GRCm38) T348A probably benign Het
Ginm1 A G 10: 7,779,314 (GRCm38) S55P probably damaging Het
Glt1d1 C A 5: 127,657,084 (GRCm38) probably null Het
Gm15433 T A 1: 84,964,112 (GRCm38) noncoding transcript Het
Gm8221 A G 15: 77,626,152 (GRCm38) noncoding transcript Het
Gramd1c A G 16: 43,983,241 (GRCm38) V603A probably benign Het
Grm1 A G 10: 11,080,442 (GRCm38) S33P probably benign Het
Gstp3 T C 19: 4,057,922 (GRCm38) N137S possibly damaging Het
Kdm5d C T Y: 927,995 (GRCm38) P756S probably benign Het
Ly75 A T 2: 60,311,771 (GRCm38) L1332M possibly damaging Het
Med1 T A 11: 98,163,963 (GRCm38) K378N probably damaging Het
Mn1 A G 5: 111,421,886 (GRCm38) probably null Het
Mpo T C 11: 87,803,611 (GRCm38) probably null Het
Nom1 C G 5: 29,441,379 (GRCm38) R555G probably damaging Het
Nsmce4a C T 7: 130,538,170 (GRCm38) R276Q probably benign Het
Nt5c G A 11: 115,490,817 (GRCm38) probably null Het
Olfr472 T C 7: 107,903,491 (GRCm38) I258T possibly damaging Het
Olfr670 G T 7: 104,959,996 (GRCm38) H245Q probably damaging Het
Olfr908 CACAACAACA CACAACA 9: 38,516,138 (GRCm38) probably benign Het
Pcdhga4 T C 18: 37,685,596 (GRCm38) V66A probably damaging Het
Pik3c3 T C 18: 30,312,561 (GRCm38) S534P probably benign Het
Pla2g4e A T 2: 120,186,395 (GRCm38) C222S probably benign Het
Plch1 A C 3: 63,698,078 (GRCm38) H1468Q probably benign Het
Psd2 T A 18: 36,007,503 (GRCm38) W610R probably damaging Het
Ptgs1 A T 2: 36,251,186 (GRCm38) K548N probably damaging Het
Ptprz1 T A 6: 23,007,355 (GRCm38) V1639E probably damaging Het
Rangap1 A T 15: 81,706,494 (GRCm38) S466T probably benign Het
Rgsl1 C T 1: 153,790,307 (GRCm38) V986I probably benign Het
Rhobtb3 T C 13: 75,878,895 (GRCm38) Y453C probably damaging Het
Rspry1 C A 8: 94,654,264 (GRCm38) R399S probably benign Het
Rspry1 T C 8: 94,623,008 (GRCm38) V8A probably benign Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Rxfp2 A G 5: 150,070,260 (GRCm38) T596A probably benign Het
Sap18b G A 8: 95,825,370 (GRCm38) A3T unknown Het
Serpina3j A G 12: 104,314,727 (GRCm38) D53G probably damaging Het
Skint3 T A 4: 112,298,189 (GRCm38) D381E possibly damaging Het
Slirp T C 12: 87,449,422 (GRCm38) S96P possibly damaging Het
Snx6 T C 12: 54,770,728 (GRCm38) E128G probably damaging Het
Stap1 A G 5: 86,090,928 (GRCm38) T152A possibly damaging Het
Tcf20 A T 15: 82,851,957 (GRCm38) N1764K probably damaging Het
Thap2 A T 10: 115,372,839 (GRCm38) Y125* probably null Het
Ticrr T G 7: 79,690,942 (GRCm38) Y1031* probably null Het
Tnrc18 G A 5: 142,740,156 (GRCm38) R1793C unknown Het
Trpm3 C T 19: 22,926,184 (GRCm38) R945* probably null Het
Ugt1a10 T A 1: 88,055,910 (GRCm38) D143E probably damaging Het
Ush2a C T 1: 188,755,206 (GRCm38) T3057M probably benign Het
Zc3h6 A T 2: 129,002,156 (GRCm38) I207F possibly damaging Het
Zfp518a T C 19: 40,913,510 (GRCm38) S628P probably benign Het
Zufsp T C 10: 33,927,466 (GRCm38) N541D possibly damaging Het
Other mutations in Dtna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Dtna APN 18 23,597,488 (GRCm38) missense probably benign 0.22
IGL01620:Dtna APN 18 23,625,087 (GRCm38) missense probably damaging 1.00
IGL01705:Dtna APN 18 23,545,731 (GRCm38) missense probably damaging 1.00
IGL01914:Dtna APN 18 23,597,459 (GRCm38) missense possibly damaging 0.62
IGL02388:Dtna APN 18 23,597,514 (GRCm38) missense probably benign 0.00
IGL02427:Dtna APN 18 23,651,538 (GRCm38) missense possibly damaging 0.95
IGL03074:Dtna APN 18 23,602,605 (GRCm38) missense possibly damaging 0.74
R0041:Dtna UTSW 18 23,646,875 (GRCm38) unclassified probably benign
R0041:Dtna UTSW 18 23,646,875 (GRCm38) unclassified probably benign
R0078:Dtna UTSW 18 23,621,442 (GRCm38) missense probably damaging 1.00
R0390:Dtna UTSW 18 23,597,501 (GRCm38) missense probably damaging 1.00
R1808:Dtna UTSW 18 23,569,640 (GRCm38) missense probably damaging 1.00
R1872:Dtna UTSW 18 23,597,560 (GRCm38) critical splice donor site probably null
R2095:Dtna UTSW 18 23,569,748 (GRCm38) missense probably damaging 1.00
R2216:Dtna UTSW 18 23,569,565 (GRCm38) missense probably damaging 1.00
R2295:Dtna UTSW 18 23,631,412 (GRCm38) missense probably damaging 1.00
R2402:Dtna UTSW 18 23,595,478 (GRCm38) nonsense probably null
R2846:Dtna UTSW 18 23,651,503 (GRCm38) splice site probably null
R3836:Dtna UTSW 18 23,625,102 (GRCm38) missense probably damaging 1.00
R4764:Dtna UTSW 18 23,535,149 (GRCm38) splice site probably null
R4893:Dtna UTSW 18 23,569,667 (GRCm38) missense probably damaging 0.99
R5194:Dtna UTSW 18 23,590,245 (GRCm38) nonsense probably null
R5373:Dtna UTSW 18 23,651,613 (GRCm38) missense probably damaging 1.00
R5526:Dtna UTSW 18 23,646,230 (GRCm38) missense probably damaging 0.99
R5755:Dtna UTSW 18 23,621,463 (GRCm38) missense probably benign
R5769:Dtna UTSW 18 23,651,554 (GRCm38) missense probably benign 0.27
R6062:Dtna UTSW 18 23,622,056 (GRCm38) missense possibly damaging 0.87
R6413:Dtna UTSW 18 23,622,014 (GRCm38) missense probably damaging 1.00
R6876:Dtna UTSW 18 23,611,110 (GRCm38) missense probably benign 0.00
R7103:Dtna UTSW 18 23,653,379 (GRCm38) critical splice donor site probably null
R7711:Dtna UTSW 18 23,625,196 (GRCm38) critical splice donor site probably null
R7804:Dtna UTSW 18 23,595,609 (GRCm38) missense probably damaging 0.97
R8156:Dtna UTSW 18 23,590,331 (GRCm38) nonsense probably null
R8437:Dtna UTSW 18 23,590,341 (GRCm38) nonsense probably null
R8786:Dtna UTSW 18 23,583,133 (GRCm38) missense probably benign 0.10
R9038:Dtna UTSW 18 23,610,496 (GRCm38) missense probably benign
R9268:Dtna UTSW 18 23,569,586 (GRCm38) missense possibly damaging 0.93
R9416:Dtna UTSW 18 23,647,055 (GRCm38) critical splice donor site probably null
R9578:Dtna UTSW 18 23,595,555 (GRCm38) missense probably damaging 0.98
R9605:Dtna UTSW 18 23,631,397 (GRCm38) missense probably damaging 1.00
R9638:Dtna UTSW 18 23,611,065 (GRCm38) missense probably benign
X0063:Dtna UTSW 18 23,643,168 (GRCm38) missense probably damaging 0.98
X0066:Dtna UTSW 18 23,592,981 (GRCm38) missense probably benign 0.38
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-06