|Institutional Source||Beutler Lab|
|Gene Name||Rhesus blood group-associated A glycoprotein|
|Synonyms||Rh50, CD241, Rh50A|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R4695 (G1)|
|Chromosomal Location||40811126-40840754 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40836467 bp|
|Amino Acid Change||Tyrosine to Histidine at position 407 (Y407H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024721 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024721]|
|Predicted Effect||probably damaging
AA Change: Y407H
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: Y407H
|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 is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, a slight increase in iron levels, and decreased transferrin levels in males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rhag||
(F):5'- ATCCAAAATGTGCTAAGCTTCTGC -3'
(R):5'- AAACCAGTTGCCATTGTTTCTACC -3'
(F):5'- CTGCTAATTATGTCAGCAAAAAGAGG -3'
(R):5'- TGCTGTCCCTGCAGACAC -3'