|Institutional Source||Beutler Lab|
|Gene Name||dynein, axonemal, heavy chain 5|
|Synonyms||b2b1565Clo, b2b1134Clo, Mdnah5, b2b1537Clo, b2b1154Clo, Dnahc5|
|Is this an essential gene?||Probably essential (E-score: 0.830)|
|Stock #||R7032 (G1)|
|Chromosomal Location||28203752-28472052 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 28326650 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 2002 (N2002D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069751 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067048]|
|Predicted Effect||probably damaging
AA Change: N2002D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N2002D
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
|MGI Phenotype||Strain: 2180081
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnah5||
(F):5'- TCTGCATCACCAACAAGTTTG -3'
(R):5'- TGCAGACTGAATCAAATTGCCC -3'
(F):5'- AGTGCCTTTGGGATGCCC -3'
(R):5'- AATTGCCCTGTAGCCTAAGCATG -3'