Incidental Mutation 'R4923:Odad2'
ID 378831
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 042525-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R4923 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 7088209-7297936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 7181787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 846 (D846H)
Ref Sequence ENSEMBL: ENSMUSP00000080028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081275]
AlphaFold B2RY50
Predicted Effect probably damaging
Transcript: ENSMUST00000081275
AA Change: D846H

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: D846H

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 0.1723 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Brd4 A G 17: 32,418,214 (GRCm39) M13T probably benign Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elapor1 C T 3: 108,379,284 (GRCm39) probably null Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Or12j3 G T 7: 139,952,920 (GRCm39) T201K probably benign Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Slc39a2 G A 14: 52,132,711 (GRCm39) G218D probably damaging Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vit T A 17: 78,894,270 (GRCm39) M224K probably benign Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A 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
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
R7578:Odad2 UTSW 18 7,211,593 (GRCm39) missense probably benign 0.43
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'- CAAGACTACTTTGCCGTTACTTTTG -3'
(R):5'- ACCCCAGCAGAATGTCTAGG -3'

Sequencing Primer
(F):5'- GCCGTTACTTTTGTCTAGTTTCATG -3'
(R):5'- GTCTAGGCCCAAACTAGAATTGTGTG -3'
Posted On 2016-04-15