|Institutional Source||Beutler Lab|
|Gene Name||ATPase, class I, type 8B, member 3|
|Synonyms||1700042F02Rik, SAPLT, 1700056N23Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R4648 (G1)|
|Chromosomal Location||80519584-80539124 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 80525623 bp|
|Amino Acid Change||Serine to Proline at position 822 (S822P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020383 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000220326]|
|Predicted Effect||possibly damaging
AA Change: S822P
PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: S822P
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp8b3||
(F):5'- CACAGCATCTTGTCAGCCATC -3'
(R):5'- TCCAGAATGCAGTGGTGGATG -3'
(F):5'- ATCTTGTCAGCCATCGGGAC -3'
(R):5'- TGGATGAGGTCGCCCAG -3'