Incidental Mutation 'R5024:Odad2'
ID 391271
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 042615-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R5024 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 7088209-7297936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7088555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1005 (M1005V)
Ref Sequence ENSEMBL: ENSMUSP00000080028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081275]
AlphaFold B2RY50
Predicted Effect probably benign
Transcript: ENSMUST00000081275
AA Change: M1005V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: M1005V

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 0.2852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 99% (95/96)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,248,959 (GRCm39) N575S probably damaging Het
Akap6 C T 12: 53,189,345 (GRCm39) T2253M probably benign Het
Arhgef37 A C 18: 61,639,511 (GRCm39) N289K probably damaging Het
Atad2b A C 12: 4,987,534 (GRCm39) T121P probably benign Het
Atp4a A C 7: 30,415,289 (GRCm39) D303A possibly damaging Het
Calu A T 6: 29,374,518 (GRCm39) probably benign Het
Ccdc141 A C 2: 76,885,047 (GRCm39) N531K probably benign Het
Ccdc146 T C 5: 21,604,612 (GRCm39) probably null Het
Cd207 G A 6: 83,651,301 (GRCm39) T218I probably damaging Het
Cd2ap A C 17: 43,116,236 (GRCm39) probably null Het
Ceacam23 A G 7: 17,644,607 (GRCm39) I575V probably benign Het
Clip3 G A 7: 29,991,644 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,751 (GRCm39) R432H possibly damaging Het
Csmd2 A G 4: 128,215,141 (GRCm39) Y521C possibly damaging Het
Dnah8 A T 17: 30,955,070 (GRCm39) E2033V probably damaging Het
Eng T G 2: 32,563,404 (GRCm39) V319G probably benign Het
Erp44 C T 4: 48,241,296 (GRCm39) W57* probably null Het
Etv1 T A 12: 38,904,233 (GRCm39) probably null Het
Eva1c T C 16: 90,673,081 (GRCm39) probably null Het
Fam221b T A 4: 43,659,674 (GRCm39) N482I probably damaging Het
Fam83h T C 15: 75,876,991 (GRCm39) H202R probably damaging Het
Fbxw13 T C 9: 109,008,403 (GRCm39) T449A probably benign Het
Fbxw25 A T 9: 109,492,442 (GRCm39) probably null Het
Frmd3 T A 4: 74,016,381 (GRCm39) S99T probably benign Het
Gm5174 G T 10: 86,492,451 (GRCm39) noncoding transcript Het
Gm815 C T 19: 26,865,175 (GRCm39) Q49* probably null Het
H2-DMa A T 17: 34,357,461 (GRCm39) I245F possibly damaging Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Hirip3 A G 7: 126,463,661 (GRCm39) probably null Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Hmcn1 T A 1: 150,556,439 (GRCm39) E2449V possibly damaging Het
Igll1 G T 16: 16,681,657 (GRCm39) H33N probably benign Het
Il6 T C 5: 30,224,512 (GRCm39) L184P probably damaging Het
Impg2 T A 16: 56,080,463 (GRCm39) S756T probably damaging Het
Insyn2a A G 7: 134,520,207 (GRCm39) S108P probably damaging Het
Kank4 T G 4: 98,673,898 (GRCm39) D5A probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcns2 A T 15: 34,839,683 (GRCm39) T349S probably benign Het
Keap1 A G 9: 21,148,522 (GRCm39) Y162H probably damaging Het
Kif9 T C 9: 110,312,161 (GRCm39) F10L possibly damaging Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,326,184 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lpar6 A G 14: 73,476,809 (GRCm39) T257A probably damaging Het
Lpin1 A T 12: 16,604,007 (GRCm39) L608Q probably benign Het
Lyst T C 13: 13,808,989 (GRCm39) S220P probably benign Het
M1ap A G 6: 83,005,339 (GRCm39) probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Myo5b A T 18: 74,849,105 (GRCm39) T1115S possibly damaging Het
Mysm1 C A 4: 94,839,253 (GRCm39) V683F possibly damaging Het
Nlrp4g T A 9: 124,350,155 (GRCm38) noncoding transcript Het
Or14c39 A T 7: 86,344,089 (GRCm39) M142L probably benign Het
Or2ak5 T A 11: 58,611,776 (GRCm39) I33F probably benign Het
Or5al6 G T 2: 85,976,877 (GRCm39) A67E probably damaging Het
Or8j3c C T 2: 86,253,805 (GRCm39) G72S possibly damaging Het
Otud6b T A 4: 14,826,293 (GRCm39) Q34L probably damaging Het
Parp11 C T 6: 127,448,599 (GRCm39) T72I probably damaging Het
Pbx1 T A 1: 168,011,158 (GRCm39) D343V possibly damaging Het
Phf11 T C 14: 59,495,932 (GRCm39) probably null Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pramel15 C A 4: 144,099,878 (GRCm39) E296* probably null Het
Ranbp9 A T 13: 43,588,331 (GRCm39) I67N probably damaging Het
Rasgrp4 A G 7: 28,847,832 (GRCm39) E414G probably damaging Het
Rbbp5 A G 1: 132,418,226 (GRCm39) H15R possibly damaging Het
Scd2 A G 19: 44,289,710 (GRCm39) Y235C probably benign Het
Sdr16c5 C T 4: 4,010,365 (GRCm39) G170S probably damaging Het
Sh3bp4 G T 1: 89,073,317 (GRCm39) G722C probably damaging Het
Shmt1 A T 11: 60,688,305 (GRCm39) probably benign Het
Slc12a1 A G 2: 125,008,057 (GRCm39) I206V probably benign Het
Slc26a3 A G 12: 31,503,907 (GRCm39) D304G probably benign Het
Slc26a7 T A 4: 14,532,572 (GRCm39) D434V possibly damaging Het
Slc6a16 G T 7: 44,909,390 (GRCm39) M185I probably benign Het
Stat4 A G 1: 52,121,729 (GRCm39) I363V possibly damaging Het
Tgfb1i1 G T 7: 127,847,389 (GRCm39) M1I probably null Het
Thoc2l A G 5: 104,670,124 (GRCm39) K1549E possibly damaging Het
Tmem225 T C 9: 40,060,639 (GRCm39) V66A probably benign Het
Tmtc4 T C 14: 123,178,714 (GRCm39) probably null Het
Trpc4 T A 3: 54,102,217 (GRCm39) N38K probably benign Het
Ttll12 A T 15: 83,471,314 (GRCm39) Y218N probably damaging Het
Ttn A T 2: 76,778,769 (GRCm39) probably null Het
Tulp1 A C 17: 28,570,969 (GRCm39) Y178* probably null Het
Vmn2r58 A G 7: 41,513,746 (GRCm39) V299A probably damaging Het
Washc4 C A 10: 83,419,200 (GRCm39) Q911K possibly damaging Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Zan A T 5: 137,460,155 (GRCm39) C1245* probably null Het
Zfyve9 A C 4: 108,548,866 (GRCm39) S773A 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
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'- ACTCTGGCTTCCTGGTCAAGAG -3'
(R):5'- TGGTACGTGTGCAATATGTCCC -3'

Sequencing Primer
(F):5'- TCCTGGTCAAGAGAGGGGTATATCC -3'
(R):5'- ACTGCTGGTATTACAGGCTCACAG -3'
Posted On 2016-06-06