|Institutional Source||Beutler Lab|
|Gene Name||Rhesus blood group-associated B glycoprotein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8024 (G1)|
|Chromosomal Location||88242874-88254709 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 88248453 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 63 (D63E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130767 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171887]|
|Predicted Effect||probably benign
AA Change: D41E
|Predicted Effect||probably damaging
AA Change: D63E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D63E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rhbg||
(F):5'- TCCACGCCAACATGGATGTG -3'
(R):5'- CTTCTCTGAGCAGGGATAACAAGG -3'
(F):5'- AACATGGATGTGGCCACC -3'
(R):5'- TGCTGCTCCAGGCTGAATG -3'