Incidental Mutation 'R9360:Rhag'
ID 708664
Institutional Source Beutler Lab
Gene Symbol Rhag
Ensembl Gene ENSMUSG00000023926
Gene Name Rhesus blood group-associated A glycoprotein
Synonyms Rh50, CD241, Rh50A
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R9360 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 41122017-41151645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41142548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 251 (V251A)
Ref Sequence ENSEMBL: ENSMUSP00000024721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024721]
AlphaFold Q9QUT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024721
AA Change: V251A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: V251A

DomainStartEndE-ValueType
Pfam:Ammonium_transp 43 412 1.5e-83 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype 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
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A G 12: 81,468,261 (GRCm39) L120P probably damaging Het
Asb6 A G 2: 30,714,334 (GRCm39) S259P probably damaging Het
Atp6v0a2 C A 5: 124,767,259 (GRCm39) S7R possibly damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cacna1h G A 17: 25,594,336 (GRCm39) A2274V probably benign Het
Caml A C 13: 55,771,030 (GRCm39) N43H probably damaging Het
Ccar2 A G 14: 70,379,445 (GRCm39) S518P probably damaging Het
Cdkl3 A G 11: 51,924,349 (GRCm39) I546V probably null Het
Chac1 C T 2: 119,182,854 (GRCm39) T84I probably damaging Het
Col6a6 T C 9: 105,644,686 (GRCm39) T1201A probably benign Het
Csf1 T C 3: 107,661,158 (GRCm39) T120A possibly damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Cyp4f17 C T 17: 32,743,880 (GRCm39) R353C probably benign Het
Depdc1a A G 3: 159,232,168 (GRCm39) M640V possibly damaging Het
Dgkq A G 5: 108,798,469 (GRCm39) V633A probably damaging Het
Fdft1 A T 14: 63,415,189 (GRCm39) Y14* probably null Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Ftdc1 T C 16: 58,434,234 (GRCm39) D161G probably benign Het
Gfm2 T A 13: 97,289,752 (GRCm39) V179E probably damaging Het
Gpr12 A G 5: 146,520,299 (GRCm39) F208L probably benign Het
Greb1 A G 12: 16,790,037 (GRCm39) S4P probably damaging Het
Hlcs A T 16: 93,932,672 (GRCm39) I717N probably damaging Het
Hormad1 G A 3: 95,483,622 (GRCm39) A145T probably benign Het
Kcmf1 A T 6: 72,838,826 (GRCm39) C33* probably null Het
Kif13a A T 13: 46,962,472 (GRCm39) S561T probably benign Het
Klhl20 G T 1: 160,921,269 (GRCm39) P571Q probably benign Het
Kpna6 A T 4: 129,547,635 (GRCm39) M304K probably benign Het
Krt75 T C 15: 101,476,729 (GRCm39) K387E probably damaging Het
Lum A T 10: 97,404,752 (GRCm39) K216* probably null Het
Meioc A G 11: 102,565,779 (GRCm39) N409S probably benign Het
Mrpl20 T C 4: 155,888,402 (GRCm39) probably null Het
Naa16 A T 14: 79,593,943 (GRCm39) I374N probably benign Het
Nbea A G 3: 55,943,319 (GRCm39) I652T possibly damaging Het
Nhsl1 G A 10: 18,194,898 (GRCm39) G56R probably damaging Het
Obscn T C 11: 58,973,650 (GRCm39) I1894V probably benign Het
Olig2 A C 16: 91,023,774 (GRCm39) T163P probably damaging Het
Or13c7c A G 4: 43,835,765 (GRCm39) S242P probably benign Het
Or4g7 T C 2: 111,309,684 (GRCm39) I185T probably benign Het
Or5p81 T A 7: 108,266,977 (GRCm39) L118Q probably damaging Het
Or7e168 T A 9: 19,720,529 (GRCm39) V305D possibly damaging Het
Parp4 G A 14: 56,878,775 (GRCm39) probably null Het
Pcdhb2 T C 18: 37,429,551 (GRCm39) I508T probably damaging Het
Pcdhga8 T C 18: 37,859,787 (GRCm39) F281S probably damaging Het
Pom121l12 T A 11: 14,549,516 (GRCm39) M74K possibly damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Rrs1 A G 1: 9,616,845 (GRCm39) *366W probably null Het
Sgpp2 A G 1: 78,367,143 (GRCm39) D92G probably damaging Het
Slc44a3 C A 3: 121,325,908 (GRCm39) probably benign Het
Smg8 T C 11: 86,968,956 (GRCm39) M257V probably benign Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tet2 G T 3: 133,192,903 (GRCm39) N510K possibly damaging Het
Tgfbr3 T C 5: 107,257,550 (GRCm39) I836M unknown Het
Thada A G 17: 84,499,410 (GRCm39) V1929A probably benign Het
Tram1l1 A T 3: 124,115,899 (GRCm39) D353V probably damaging Het
Trf T A 9: 103,094,734 (GRCm39) probably null Het
Trim15 A T 17: 37,177,942 (GRCm39) C18S probably damaging Het
Vmn1r62 T C 7: 5,678,952 (GRCm39) I211T probably damaging Het
Zdhhc17 A G 10: 110,783,165 (GRCm39) V501A probably benign Het
Zfp563 A G 17: 33,324,428 (GRCm39) E341G probably benign Het
Other mutations in Rhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Rhag APN 17 41,122,178 (GRCm39) missense possibly damaging 0.73
IGL01463:Rhag APN 17 41,139,646 (GRCm39) missense probably damaging 1.00
IGL01954:Rhag APN 17 41,139,341 (GRCm39) missense possibly damaging 0.88
IGL03000:Rhag APN 17 41,139,413 (GRCm39) missense probably benign 0.00
R0385:Rhag UTSW 17 41,145,618 (GRCm39) missense probably damaging 0.97
R0570:Rhag UTSW 17 41,139,804 (GRCm39) splice site probably benign
R0811:Rhag UTSW 17 41,142,469 (GRCm39) missense possibly damaging 0.74
R0812:Rhag UTSW 17 41,142,469 (GRCm39) missense possibly damaging 0.74
R1655:Rhag UTSW 17 41,142,487 (GRCm39) missense probably damaging 0.98
R2376:Rhag UTSW 17 41,122,254 (GRCm39) critical splice donor site probably null
R2698:Rhag UTSW 17 41,147,367 (GRCm39) missense probably damaging 0.99
R4207:Rhag UTSW 17 41,142,544 (GRCm39) missense probably damaging 0.99
R4695:Rhag UTSW 17 41,147,358 (GRCm39) missense probably damaging 0.99
R4705:Rhag UTSW 17 41,147,329 (GRCm39) missense probably benign 0.35
R4729:Rhag UTSW 17 41,139,292 (GRCm39) missense probably damaging 1.00
R4790:Rhag UTSW 17 41,142,181 (GRCm39) missense probably benign 0.23
R4895:Rhag UTSW 17 41,122,242 (GRCm39) missense probably benign
R5224:Rhag UTSW 17 41,139,395 (GRCm39) missense probably damaging 0.98
R5685:Rhag UTSW 17 41,142,222 (GRCm39) missense possibly damaging 0.88
R7403:Rhag UTSW 17 41,145,549 (GRCm39) missense probably damaging 1.00
R7407:Rhag UTSW 17 41,142,225 (GRCm39) missense possibly damaging 0.56
R7553:Rhag UTSW 17 41,139,286 (GRCm39) missense probably damaging 1.00
R7884:Rhag UTSW 17 41,142,536 (GRCm39) missense probably benign 0.06
R8056:Rhag UTSW 17 41,139,679 (GRCm39) missense probably damaging 1.00
R9135:Rhag UTSW 17 41,139,302 (GRCm39) missense probably damaging 1.00
R9229:Rhag UTSW 17 41,142,081 (GRCm39) missense probably damaging 1.00
R9777:Rhag UTSW 17 41,139,416 (GRCm39) missense probably benign 0.02
X0064:Rhag UTSW 17 41,144,396 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGGTCAGTAGTCCCTGTTC -3'
(R):5'- TTCTGTCTGATTTTAACTGACCAGC -3'

Sequencing Primer
(F):5'- TGCCTCACTTTTTGATGATCAAG -3'
(R):5'- GACCAGCATAAATTACAAAACTGTG -3'
Posted On 2022-04-18