Incidental Mutation 'R6182:Odad3'
ID 487037
Institutional Source Beutler Lab
Gene Symbol Odad3
Ensembl Gene ENSMUSG00000039632
Gene Name outer dynein arm docking complex subunit 3
Synonyms Ccdc151, C330001K17Rik, b2b1885Clo
MMRRC Submission 044324-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6182 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 21901167-21913930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21901698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 553 (F553S)
Ref Sequence ENSEMBL: ENSMUSP00000041117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044926] [ENSMUST00000045726] [ENSMUST00000115336] [ENSMUST00000214026] [ENSMUST00000215851]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044926
AA Change: F553S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: F553S

DomainStartEndE-ValueType
coiled coil region 88 286 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
coiled coil region 378 420 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
low complexity region 550 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045726
SMART Domains Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
RasGEFN 63 201 1.35e-6 SMART
RasGEF 244 504 2.74e-84 SMART
low complexity region 533 579 N/A INTRINSIC
RA 609 699 3.36e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115336
AA Change: F554S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: F554S

DomainStartEndE-ValueType
coiled coil region 88 286 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
coiled coil region 379 421 N/A INTRINSIC
low complexity region 496 515 N/A INTRINSIC
low complexity region 551 566 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214713
Predicted Effect probably benign
Transcript: ENSMUST00000215851
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,074,489 (GRCm39) S884P probably benign Het
Akap13 C A 7: 75,236,028 (GRCm39) A201E probably benign Het
Ces1f T G 8: 93,983,124 (GRCm39) E540A probably benign Het
Chid1 T A 7: 141,108,415 (GRCm39) M137L probably benign Het
Chsy3 A G 18: 59,312,414 (GRCm39) T296A probably benign Het
Clec4f A G 6: 83,622,284 (GRCm39) V519A probably benign Het
Clk4 T A 11: 51,159,009 (GRCm39) F41I possibly damaging Het
Cntnap5c A G 17: 58,183,390 (GRCm39) D32G probably benign Het
Ctsl T C 13: 64,515,786 (GRCm39) Y95C probably damaging Het
Cyp2c54 T C 19: 40,036,005 (GRCm39) M302V probably benign Het
Cyp2c65 C G 19: 39,049,606 (GRCm39) L45V probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam1 C T 12: 72,006,661 (GRCm39) Q693* probably null Het
Dgcr8 A T 16: 18,098,172 (GRCm39) D406E probably benign Het
Dock2 G T 11: 34,179,476 (GRCm39) P1760Q probably damaging Het
Epb41l2 G A 10: 25,383,715 (GRCm39) R940H probably damaging Het
Erc2 A C 14: 28,039,210 (GRCm39) D951A probably damaging Het
Fbxw7 T C 3: 84,723,078 (GRCm39) probably null Het
Frem2 T A 3: 53,555,390 (GRCm39) I1716F probably damaging Het
Fus A G 7: 127,576,465 (GRCm39) D295G probably damaging Het
Gm5093 A G 17: 46,750,568 (GRCm39) I153T probably benign Het
Gnptab T C 10: 88,265,342 (GRCm39) V318A possibly damaging Het
Gpc2 T C 5: 138,276,676 (GRCm39) D150G probably benign Het
Gsc2 A G 16: 17,731,483 (GRCm39) *215R probably null Het
Hectd3 T C 4: 116,857,476 (GRCm39) S552P probably damaging Het
Katnal1 C A 5: 148,841,407 (GRCm39) K152N possibly damaging Het
Kcnh1 A T 1: 191,873,361 (GRCm39) T16S probably damaging Het
Lrrc71 T C 3: 87,653,101 (GRCm39) D105G probably benign Het
Mon2 T C 10: 122,874,564 (GRCm39) probably null Het
Mroh9 G A 1: 162,893,612 (GRCm39) Q188* probably null Het
Mtmr14 A G 6: 113,246,469 (GRCm39) S81G possibly damaging Het
Nrap T A 19: 56,350,130 (GRCm39) M628L probably benign Het
Or1o1 T A 17: 37,716,883 (GRCm39) I148K possibly damaging Het
Or5k1 A G 16: 58,617,655 (GRCm39) Y185H probably damaging Het
Pals2 A G 6: 50,175,206 (GRCm39) I506V probably benign Het
Pate4 A T 9: 35,519,586 (GRCm39) S35T possibly damaging Het
Pkd1l1 T C 11: 8,815,555 (GRCm39) E1452G probably benign Het
Pld5 T C 1: 175,872,420 (GRCm39) D239G probably benign Het
Ppef2 C T 5: 92,374,925 (GRCm39) V728M probably damaging Het
Rasip1 TGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGC 7: 45,277,879 (GRCm39) probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina3c C A 12: 104,115,690 (GRCm39) V285L probably benign Het
Serpinb9f T C 13: 33,518,405 (GRCm39) S302P probably damaging Het
Sis C T 3: 72,811,626 (GRCm39) V1642I probably benign Het
Slc12a4 G A 8: 106,674,531 (GRCm39) L601F probably damaging Het
Slc39a6 G T 18: 24,734,013 (GRCm39) N225K probably benign Het
Snrnp70 G A 7: 45,026,497 (GRCm39) R291* probably null Het
Spin1 C T 13: 51,298,374 (GRCm39) T131I probably benign Het
St18 T G 1: 6,914,342 (GRCm39) probably null Het
Stox1 A G 10: 62,500,721 (GRCm39) L613P probably damaging Het
Tgm3 T G 2: 129,867,221 (GRCm39) Y155* probably null Het
Tmem67 T C 4: 12,051,402 (GRCm39) I809V probably benign Het
Tnc T A 4: 63,927,033 (GRCm39) D831V probably damaging Het
Ttll13 A T 7: 79,909,981 (GRCm39) E762D probably benign Het
Unc5b A T 10: 60,601,015 (GRCm39) V937E probably damaging Het
Vmn1r34 A G 6: 66,614,312 (GRCm39) I142T probably damaging Het
Vmn2r104 A G 17: 20,250,507 (GRCm39) M588T probably benign Het
Vmn2r77 T C 7: 86,460,957 (GRCm39) V761A probably damaging Het
Wdr48 G T 9: 119,753,832 (GRCm39) G665W probably damaging Het
Xpot T A 10: 121,442,163 (GRCm39) R550S probably damaging Het
Ydjc A G 16: 16,964,943 (GRCm39) T33A probably benign Het
Zfc3h1 A G 10: 115,226,764 (GRCm39) T274A probably benign Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp788 T A 7: 41,299,940 (GRCm39) C859S probably damaging Het
Zscan4c T C 7: 10,740,709 (GRCm39) M76T probably benign Het
Other mutations in Odad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Odad3 APN 9 21,906,675 (GRCm39) critical splice acceptor site probably null
IGL01922:Odad3 APN 9 21,904,826 (GRCm39) unclassified probably benign
IGL02223:Odad3 APN 9 21,904,908 (GRCm39) missense probably damaging 1.00
IGL03161:Odad3 APN 9 21,913,611 (GRCm39) missense probably benign 0.02
IGL03269:Odad3 APN 9 21,909,339 (GRCm39) critical splice donor site probably null
R0118:Odad3 UTSW 9 21,906,353 (GRCm39) missense probably benign 0.03
R0129:Odad3 UTSW 9 21,904,848 (GRCm39) missense probably damaging 0.98
R0279:Odad3 UTSW 9 21,901,543 (GRCm39) unclassified probably benign
R0390:Odad3 UTSW 9 21,903,004 (GRCm39) missense probably benign 0.00
R1349:Odad3 UTSW 9 21,904,916 (GRCm39) missense probably damaging 1.00
R1372:Odad3 UTSW 9 21,904,916 (GRCm39) missense probably damaging 1.00
R1891:Odad3 UTSW 9 21,906,677 (GRCm39) splice site probably null
R2044:Odad3 UTSW 9 21,903,154 (GRCm39) missense possibly damaging 0.95
R5116:Odad3 UTSW 9 21,901,424 (GRCm39) makesense probably null
R5147:Odad3 UTSW 9 21,906,158 (GRCm39) missense probably benign 0.21
R5929:Odad3 UTSW 9 21,913,718 (GRCm39) missense possibly damaging 0.50
R7253:Odad3 UTSW 9 21,913,767 (GRCm39) missense probably damaging 1.00
R7498:Odad3 UTSW 9 21,913,553 (GRCm39) missense probably damaging 1.00
R7742:Odad3 UTSW 9 21,904,193 (GRCm39) missense possibly damaging 0.82
R8331:Odad3 UTSW 9 21,903,007 (GRCm39) missense probably damaging 1.00
R8976:Odad3 UTSW 9 21,903,334 (GRCm39) unclassified probably benign
R9319:Odad3 UTSW 9 21,906,203 (GRCm39) missense probably damaging 1.00
R9324:Odad3 UTSW 9 21,903,207 (GRCm39) missense probably damaging 1.00
R9422:Odad3 UTSW 9 21,913,628 (GRCm39) missense possibly damaging 0.55
R9614:Odad3 UTSW 9 21,904,310 (GRCm39) missense probably benign 0.02
Z1176:Odad3 UTSW 9 21,901,720 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TCTGGGAACGGAGCTTGAAG -3'
(R):5'- CGGTAGAAACTCAATGTAAGGTGC -3'

Sequencing Primer
(F):5'- GGTCACCACATCACGGTC -3'
(R):5'- GAAAGCTGCCCCTATACAA -3'
Posted On 2017-10-10