Incidental Mutation 'R9229:Odad2'
ID 700135
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # R9229 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 7088209-7297936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7127324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 963 (R963L)
Ref Sequence ENSEMBL: ENSMUSP00000080028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081275]
AlphaFold B2RY50
Predicted Effect possibly damaging
Transcript: ENSMUST00000081275
AA Change: R963L

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: R963L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (77/79)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 70,990,259 (GRCm39) T104A probably damaging Het
Agbl1 G A 7: 76,774,270 (GRCm39) V1065I unknown Het
Agpat1 G T 17: 34,830,663 (GRCm39) V196L probably null Het
Agxt2 T A 15: 10,409,597 (GRCm39) V499E probably damaging Het
Amy2a1 T A 3: 113,325,955 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Arhgef18 T A 8: 3,479,314 (GRCm39) S51T probably benign Het
Armc12 A C 17: 28,751,345 (GRCm39) D113A probably benign Het
Azin1 T A 15: 38,490,646 (GRCm39) I436F probably benign Het
B3galnt2 T C 13: 14,166,107 (GRCm39) V334A probably damaging Het
Ccdc68 C T 18: 70,080,203 (GRCm39) H183Y probably benign Het
Cd180 TA TAA 13: 102,841,514 (GRCm39) probably null Het
Cemip A T 7: 83,606,833 (GRCm39) W795R probably damaging Het
Cenpj C T 14: 56,802,176 (GRCm39) E130K possibly damaging Het
Ciao1 G C 2: 127,089,062 (GRCm39) C52W probably damaging Het
Cmya5 A G 13: 93,232,176 (GRCm39) S971P possibly damaging Het
Cnot2 A T 10: 116,384,960 (GRCm39) L9* probably null Het
Coro1c G T 5: 114,003,747 (GRCm39) H91N probably damaging Het
Crbn A T 6: 106,777,017 (GRCm39) M1K probably null Het
Ctsb T A 14: 63,373,112 (GRCm39) W90R probably damaging Het
Ctse A G 1: 131,595,862 (GRCm39) I185V probably damaging Het
Dennd1b G T 1: 138,981,100 (GRCm39) E105* probably null Het
Eif4a3l1 A G 6: 136,306,141 (GRCm39) I201V possibly damaging Het
Exoc5 G A 14: 49,251,710 (GRCm39) Q679* probably null Het
Firrm A T 1: 163,794,659 (GRCm39) W512R probably damaging Het
Gabrg3 G A 7: 56,374,268 (GRCm39) R433C probably damaging Het
Gria2 C A 3: 80,709,689 (GRCm39) M1I probably null Het
H1f6 T C 13: 23,880,029 (GRCm39) S61P probably damaging Het
Hoxb6 A T 11: 96,191,645 (GRCm39) Q189L probably damaging Het
Hoxd10 A G 2: 74,524,600 (GRCm39) N304S possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Htra4 A T 8: 25,528,557 (GRCm39) C112S probably damaging Het
Ide T C 19: 37,261,598 (GRCm39) T715A Het
Ipo13 A T 4: 117,758,801 (GRCm39) I688N probably damaging Het
Irs2 A C 8: 11,057,400 (GRCm39) L344R probably damaging Het
Kat6a A G 8: 23,429,987 (GRCm39) T1781A unknown Het
Lin7a G T 10: 107,247,844 (GRCm39) V172L probably damaging Het
Lpcat1 G T 13: 73,653,650 (GRCm39) E282D probably damaging Het
Mcf2l A G 8: 13,063,584 (GRCm39) T963A probably benign Het
Mfsd14a G A 3: 116,439,118 (GRCm39) A128V probably benign Het
Mfsd6 C G 1: 52,747,903 (GRCm39) G321R probably damaging Het
Mill2 C T 7: 18,590,475 (GRCm39) T185I probably damaging Het
Mpped1 C T 15: 83,738,673 (GRCm39) T270I possibly damaging Het
Mrtfb G T 16: 13,230,185 (GRCm39) A957S possibly damaging Het
Myh9 T A 15: 77,675,017 (GRCm39) Y300F possibly damaging Het
Nlrp2 T A 7: 5,304,052 (GRCm39) T953S possibly damaging Het
Nlrp4e T A 7: 23,020,799 (GRCm39) S429T probably benign Het
Nphp3 T A 9: 103,913,376 (GRCm39) Y1003N probably damaging Het
Nrap T C 19: 56,310,339 (GRCm39) K1588R probably benign Het
Or10ag56 G A 2: 87,139,165 (GRCm39) V31I probably benign Het
Or5b124 T A 19: 13,611,414 (GRCm39) V313D probably damaging Het
Pam A G 1: 97,753,660 (GRCm39) V870A probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pierce1 C A 2: 28,352,390 (GRCm39) M124I probably damaging Het
Plin3 A T 17: 56,591,315 (GRCm39) V155E probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Pnpla7 G A 2: 24,873,503 (GRCm39) V170I probably damaging Het
Pramel34 A T 5: 93,784,089 (GRCm39) C458* probably null Het
Ptprz1 A G 6: 22,986,283 (GRCm39) H361R probably null Het
Pvalb T A 15: 78,086,767 (GRCm39) I50F possibly damaging Het
Relch A T 1: 105,614,709 (GRCm39) I218F possibly damaging Het
Rhag G A 17: 41,142,081 (GRCm39) A175T probably damaging Het
Slc24a4 T C 12: 102,200,983 (GRCm39) V291A possibly damaging Het
Slc9b2 G A 3: 135,042,295 (GRCm39) E525K probably benign Het
Smg7 A G 1: 152,720,971 (GRCm39) F747S possibly damaging Het
Sorcs1 T G 19: 50,141,300 (GRCm39) I1144L probably benign Het
Sox1 A T 8: 12,447,390 (GRCm39) I344F possibly damaging Het
Speer4e2 A T 5: 15,027,718 (GRCm39) S53T probably benign Het
Spta1 A T 1: 174,067,750 (GRCm39) E2059V probably damaging Het
Sva T A 6: 42,017,050 (GRCm39) N52K possibly damaging Het
Sva T A 6: 42,017,052 (GRCm39) M53K probably benign Het
Thsd7b A G 1: 129,849,027 (GRCm39) Y913C probably damaging Het
Tiam1 A G 16: 89,634,719 (GRCm39) S864P possibly damaging Het
Tma16 A G 8: 66,936,779 (GRCm39) V16A probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Treml1 A G 17: 48,673,774 (GRCm39) S262G probably benign Het
Ttn A T 2: 76,597,797 (GRCm39) D19705E probably benign Het
Utp20 A G 10: 88,594,239 (GRCm39) L2162P possibly damaging Het
Vmn2r60 A G 7: 41,791,723 (GRCm39) I549V possibly damaging Het
Xpo4 T C 14: 57,851,156 (GRCm39) N329S probably benign Het
Zfp879 T A 11: 50,723,886 (GRCm39) H390L probably damaging Het
Zranb1 C T 7: 132,583,117 (GRCm39) S512F probably damaging Het
Zswim8 A G 14: 20,766,393 (GRCm39) H847R 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
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
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'- GCATGAACATCTCTTACAGCAAG -3'
(R):5'- ATTGGCCTCTCAGTGGGTAG -3'

Sequencing Primer
(F):5'- GTAGAACGATGCTCCTTACATGTC -3'
(R):5'- TCTCAGTGGGTAGCAGGCAC -3'
Posted On 2022-02-07