Incidental Mutation 'R7578:Odad2'
ID 586613
Institutional Source Beutler Lab
Gene Symbol Odad2
Ensembl Gene ENSMUSG00000061802
Gene Name outer dynein arm docking complex subunit 2
Synonyms b2b227.1Clo, Armc4, b2b643Clo, 4930463I21Rik
MMRRC Submission 045663-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R7578 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 7088209-7297936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7211593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 760 (D760E)
Ref Sequence ENSEMBL: ENSMUSP00000080028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081275]
AlphaFold B2RY50
Predicted Effect probably benign
Transcript: ENSMUST00000081275
AA Change: D760E

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: D760E

DomainStartEndE-ValueType
low complexity region 172 186 N/A INTRINSIC
low complexity region 410 428 N/A INTRINSIC
ARM 475 516 1.38e1 SMART
ARM 517 557 2.38e-2 SMART
ARM 558 613 3.97e0 SMART
ARM 614 654 2.59e-3 SMART
ARM 655 695 3.48e1 SMART
ARM 696 737 1.6e1 SMART
ARM 738 778 4.09e0 SMART
ARM 779 819 9.68e0 SMART
ARM 861 903 3.52e0 SMART
ARM 904 944 1.26e1 SMART
ARM 945 985 1.03e1 SMART
ARM 986 1026 1.13e-3 SMART
Meta Mutation Damage Score 0.0867 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit situs inversus totalis or heterotaxia with congenital heart disease including double outlet right ventricle and ventricular septal defects. Dyskinetic, slow, or immotile airway cilia are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,120,343 (GRCm39) V165E probably damaging Het
1700025G04Rik T G 1: 151,796,841 (GRCm39) T75P probably benign Het
4930516K23Rik T C 7: 103,708,104 (GRCm39) E235G probably benign Het
Adam15 A G 3: 89,251,499 (GRCm39) C449R probably damaging Het
Adam24 T C 8: 41,133,294 (GRCm39) V254A probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Aldh1a1 A C 19: 20,595,366 (GRCm39) R98S probably damaging Het
Alg9 A G 9: 50,700,835 (GRCm39) I202V probably benign Het
Anks1b G A 10: 89,885,789 (GRCm39) E162K probably damaging Het
Atp6v1b2 A G 8: 69,556,128 (GRCm39) T268A probably benign Het
Atxn1 C T 13: 45,720,834 (GRCm39) V354I probably benign Het
B3galt1 A G 2: 67,948,896 (GRCm39) T204A probably damaging Het
Catsperb T A 12: 101,554,544 (GRCm39) I746K probably benign Het
Cdh23 G A 10: 60,243,186 (GRCm39) T1063M probably benign Het
Cherp G A 8: 73,218,102 (GRCm39) R543C Het
Cldn20 A G 17: 3,583,274 (GRCm39) D149G probably damaging Het
Clk2 A G 3: 89,083,807 (GRCm39) Q474R probably benign Het
Cp A G 3: 20,043,262 (GRCm39) T1017A possibly damaging Het
Cyp2c39 T C 19: 39,499,400 (GRCm39) L29P probably damaging Het
Ebf3 C T 7: 136,915,261 (GRCm39) V93M probably damaging Het
Eef1akmt1 T A 14: 57,787,328 (GRCm39) M183L probably damaging Het
Fhip1a G T 3: 85,573,205 (GRCm39) L915I probably damaging Het
Filip1l A G 16: 57,333,645 (GRCm39) E146G probably damaging Het
Fpr-rs3 T C 17: 20,844,293 (GRCm39) S283G possibly damaging Het
Fras1 A T 5: 96,832,296 (GRCm39) Y1543F probably damaging Het
Garin2 T C 12: 78,762,275 (GRCm39) probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gjd3 A G 11: 98,873,301 (GRCm39) V181A probably damaging Het
Gm49368 T A 7: 127,711,430 (GRCm39) C711* probably null Het
Gtf3c2 A G 5: 31,330,341 (GRCm39) S210P probably benign Het
Herc2 A G 7: 55,784,548 (GRCm39) Y1404C probably benign Het
Il22ra2 T A 10: 19,507,372 (GRCm39) D128E probably benign Het
Itgav T A 2: 83,578,219 (GRCm39) D113E probably benign Het
Kcnd3 A G 3: 105,366,933 (GRCm39) M268V probably benign Het
Kirrel3 G T 9: 34,850,408 (GRCm39) G19V probably damaging Het
Klf17 T G 4: 117,617,916 (GRCm39) Y147S possibly damaging Het
Leng1 C T 7: 3,668,382 (GRCm39) R22H probably damaging Het
Lysmd4 T A 7: 66,876,037 (GRCm39) Y233* probably null Het
Lyzl6 A G 11: 103,525,832 (GRCm39) V96A probably benign Het
Mki67 T C 7: 135,302,644 (GRCm39) T797A possibly damaging Het
Nuf2 G T 1: 169,332,097 (GRCm39) H399Q probably benign Het
Nuggc T C 14: 65,885,623 (GRCm39) V766A probably damaging Het
Oas1c A T 5: 120,940,244 (GRCm39) D307E probably damaging Het
Or10aa3 T A 1: 173,878,266 (GRCm39) M109K possibly damaging Het
Or6c5b T C 10: 129,245,544 (GRCm39) I103T probably damaging Het
P4ha3 T C 7: 99,943,121 (GRCm39) Y169H probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,417,585 (GRCm39) D2522G probably damaging Het
Prickle2 T C 6: 92,388,271 (GRCm39) D433G probably benign Het
Ptcd3 A G 6: 71,885,691 (GRCm39) S12P probably benign Het
Ptpn23 T A 9: 110,216,676 (GRCm39) Q1060L probably benign Het
Rai14 G T 15: 10,574,914 (GRCm39) N710K probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Satb2 A G 1: 56,910,943 (GRCm39) V234A probably benign Het
Scg2 T C 1: 79,414,612 (GRCm39) Q37R probably damaging Het
Slc35e3 A T 10: 117,576,484 (GRCm39) S230T probably damaging Het
Slc39a2 T C 14: 52,132,873 (GRCm39) V272A probably damaging Het
Smg7 T A 1: 152,721,181 (GRCm39) Y677F probably damaging Het
Spinkl A G 18: 44,301,213 (GRCm39) Y42H probably damaging Het
Srsf6 T C 2: 162,774,782 (GRCm39) F102L probably benign Het
Sstr3 T C 15: 78,424,717 (GRCm39) E10G probably benign Het
Tekt3 A T 11: 62,985,486 (GRCm39) I431F probably damaging Het
Trio C T 15: 27,855,025 (GRCm39) R778H possibly damaging Het
Ush2a T A 1: 188,282,110 (GRCm39) V1875D probably damaging Het
Vmn2r29 A C 7: 7,234,441 (GRCm39) I815S probably damaging Het
Vmn2r78 A T 7: 86,603,552 (GRCm39) K577* probably null Het
Vps26c A C 16: 94,299,928 (GRCm39) N275K probably damaging Het
Yes1 G A 5: 32,802,430 (GRCm39) R115Q probably benign Het
Other mutations in Odad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Odad2 APN 18 7,211,504 (GRCm39) missense probably damaging 0.96
IGL00822:Odad2 APN 18 7,181,817 (GRCm39) missense probably damaging 1.00
IGL01345:Odad2 APN 18 7,266,947 (GRCm39) missense probably benign 0.00
IGL01593:Odad2 APN 18 7,127,345 (GRCm39) missense probably benign 0.00
IGL01645:Odad2 APN 18 7,268,491 (GRCm39) missense probably benign 0.00
IGL01863:Odad2 APN 18 7,222,617 (GRCm39) missense probably damaging 1.00
IGL01955:Odad2 APN 18 7,127,291 (GRCm39) missense possibly damaging 0.89
IGL02013:Odad2 APN 18 7,265,157 (GRCm39) splice site probably benign
IGL02142:Odad2 APN 18 7,214,601 (GRCm39) missense probably damaging 1.00
IGL02399:Odad2 APN 18 7,285,719 (GRCm39) missense probably benign
IGL02439:Odad2 APN 18 7,268,444 (GRCm39) missense probably benign 0.04
IGL02452:Odad2 APN 18 7,129,461 (GRCm39) missense probably damaging 1.00
IGL02632:Odad2 APN 18 7,214,727 (GRCm39) splice site probably benign
IGL03344:Odad2 APN 18 7,129,434 (GRCm39) nonsense probably null
R0062:Odad2 UTSW 18 7,129,593 (GRCm39) splice site probably benign
R0062:Odad2 UTSW 18 7,129,593 (GRCm39) splice site probably benign
R0242:Odad2 UTSW 18 7,211,516 (GRCm39) missense probably damaging 0.96
R0242:Odad2 UTSW 18 7,211,516 (GRCm39) missense probably damaging 0.96
R0365:Odad2 UTSW 18 7,217,800 (GRCm39) missense probably benign 0.01
R0377:Odad2 UTSW 18 7,127,415 (GRCm39) missense probably benign 0.04
R0466:Odad2 UTSW 18 7,286,758 (GRCm39) missense probably benign 0.10
R0517:Odad2 UTSW 18 7,223,621 (GRCm39) missense probably damaging 1.00
R0521:Odad2 UTSW 18 7,222,676 (GRCm39) missense possibly damaging 0.64
R0841:Odad2 UTSW 18 7,268,436 (GRCm39) missense probably damaging 0.99
R1145:Odad2 UTSW 18 7,268,436 (GRCm39) missense probably damaging 0.99
R1145:Odad2 UTSW 18 7,268,436 (GRCm39) missense probably damaging 0.99
R1435:Odad2 UTSW 18 7,222,646 (GRCm39) missense probably benign 0.01
R1487:Odad2 UTSW 18 7,273,245 (GRCm39) missense probably damaging 0.98
R1634:Odad2 UTSW 18 7,286,688 (GRCm39) missense probably damaging 0.99
R1677:Odad2 UTSW 18 7,222,554 (GRCm39) missense probably benign 0.01
R1778:Odad2 UTSW 18 7,127,388 (GRCm39) missense probably damaging 1.00
R1792:Odad2 UTSW 18 7,286,743 (GRCm39) missense probably benign 0.00
R1809:Odad2 UTSW 18 7,211,630 (GRCm39) missense probably benign 0.08
R1842:Odad2 UTSW 18 7,223,551 (GRCm39) missense probably benign 0.04
R2144:Odad2 UTSW 18 7,127,229 (GRCm39) missense probably damaging 0.96
R2206:Odad2 UTSW 18 7,223,676 (GRCm39) missense probably benign 0.25
R2273:Odad2 UTSW 18 7,223,676 (GRCm39) missense probably benign 0.25
R2275:Odad2 UTSW 18 7,223,676 (GRCm39) missense probably benign 0.25
R2918:Odad2 UTSW 18 7,222,625 (GRCm39) missense probably benign 0.04
R3421:Odad2 UTSW 18 7,223,523 (GRCm39) splice site probably benign
R3422:Odad2 UTSW 18 7,223,523 (GRCm39) splice site probably benign
R4165:Odad2 UTSW 18 7,217,008 (GRCm39) missense probably damaging 1.00
R4225:Odad2 UTSW 18 7,181,732 (GRCm39) critical splice donor site probably null
R4660:Odad2 UTSW 18 7,211,609 (GRCm39) missense possibly damaging 0.88
R4745:Odad2 UTSW 18 7,286,763 (GRCm39) missense probably benign 0.28
R4812:Odad2 UTSW 18 7,288,634 (GRCm39) missense possibly damaging 0.79
R4831:Odad2 UTSW 18 7,222,564 (GRCm39) missense possibly damaging 0.79
R4923:Odad2 UTSW 18 7,181,787 (GRCm39) missense probably damaging 0.97
R4995:Odad2 UTSW 18 7,223,663 (GRCm39) missense probably damaging 1.00
R5024:Odad2 UTSW 18 7,088,555 (GRCm39) missense probably benign 0.02
R5335:Odad2 UTSW 18 7,294,566 (GRCm39) missense probably benign 0.06
R5434:Odad2 UTSW 18 7,222,550 (GRCm39) missense probably benign 0.03
R5552:Odad2 UTSW 18 7,285,360 (GRCm39) missense possibly damaging 0.51
R5719:Odad2 UTSW 18 7,211,496 (GRCm39) missense probably benign 0.00
R5736:Odad2 UTSW 18 7,268,416 (GRCm39) missense probably benign 0.01
R5792:Odad2 UTSW 18 7,217,965 (GRCm39) missense probably benign 0.00
R5848:Odad2 UTSW 18 7,268,507 (GRCm39) splice site probably null
R5957:Odad2 UTSW 18 7,285,706 (GRCm39) missense probably benign 0.01
R6001:Odad2 UTSW 18 7,286,838 (GRCm39) missense probably benign 0.03
R6309:Odad2 UTSW 18 7,214,617 (GRCm39) missense probably benign 0.04
R6559:Odad2 UTSW 18 7,223,664 (GRCm39) missense probably damaging 0.99
R6574:Odad2 UTSW 18 7,129,394 (GRCm39) splice site probably null
R6581:Odad2 UTSW 18 7,129,560 (GRCm39) missense possibly damaging 0.77
R6736:Odad2 UTSW 18 7,223,586 (GRCm39) missense probably damaging 0.98
R6842:Odad2 UTSW 18 7,268,401 (GRCm39) missense probably benign 0.00
R6968:Odad2 UTSW 18 7,273,155 (GRCm39) splice site probably null
R6974:Odad2 UTSW 18 7,294,479 (GRCm39) missense probably benign 0.37
R7024:Odad2 UTSW 18 7,211,593 (GRCm39) missense probably benign 0.43
R7299:Odad2 UTSW 18 7,222,635 (GRCm39) missense probably damaging 1.00
R7737:Odad2 UTSW 18 7,217,890 (GRCm39) missense probably damaging 1.00
R7878:Odad2 UTSW 18 7,217,801 (GRCm39) missense probably benign 0.01
R8025:Odad2 UTSW 18 7,127,224 (GRCm39) missense probably benign 0.43
R8151:Odad2 UTSW 18 7,127,358 (GRCm39) missense probably damaging 1.00
R8989:Odad2 UTSW 18 7,268,464 (GRCm39) missense probably benign 0.24
R8998:Odad2 UTSW 18 7,211,574 (GRCm39) missense possibly damaging 0.79
R8999:Odad2 UTSW 18 7,211,574 (GRCm39) missense possibly damaging 0.79
R9006:Odad2 UTSW 18 7,294,516 (GRCm39) missense probably benign 0.00
R9091:Odad2 UTSW 18 7,217,846 (GRCm39) nonsense probably null
R9106:Odad2 UTSW 18 7,294,527 (GRCm39) missense probably benign 0.18
R9153:Odad2 UTSW 18 7,286,733 (GRCm39) missense possibly damaging 0.81
R9229:Odad2 UTSW 18 7,127,324 (GRCm39) missense possibly damaging 0.53
R9254:Odad2 UTSW 18 7,265,089 (GRCm39) missense possibly damaging 0.94
R9270:Odad2 UTSW 18 7,217,846 (GRCm39) nonsense probably null
R9379:Odad2 UTSW 18 7,265,089 (GRCm39) missense possibly damaging 0.94
R9626:Odad2 UTSW 18 7,211,422 (GRCm39) nonsense probably null
R9708:Odad2 UTSW 18 7,288,633 (GRCm39) missense probably benign 0.02
Z1088:Odad2 UTSW 18 7,266,919 (GRCm39) missense probably benign
Z1176:Odad2 UTSW 18 7,216,973 (GRCm39) nonsense probably null
Z1176:Odad2 UTSW 18 7,129,487 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGTTCTACTGCGCATGC -3'
(R):5'- TGAAGGTTAAATGGGTCTACTCAG -3'

Sequencing Primer
(F):5'- ATGCGCCCACAGCTTTTG -3'
(R):5'- TTATGTGGATCAAATGAGCACAG -3'
Posted On 2019-10-24