Incidental Mutation 'R5685:Rhag'
ID 443324
Institutional Source Beutler Lab
Gene Symbol Rhag
Ensembl Gene ENSMUSG00000023926
Gene Name Rhesus blood group-associated A glycoprotein
Synonyms Rh50, CD241, Rh50A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 41122017-41151645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41142222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 222 (M222L)
Ref Sequence ENSEMBL: ENSMUSP00000024721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024721]
AlphaFold Q9QUT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024721
AA Change: M222L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: M222L

DomainStartEndE-ValueType
Pfam:Ammonium_transp 43 412 1.5e-83 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H probably damaging 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
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
R9360:Rhag UTSW 17 41,142,548 (GRCm39) missense possibly damaging 0.82
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'- CACCTCCGTTTCTGCAAATG -3'
(R):5'- GCTGGGCCAAAATATCCACAG -3'

Sequencing Primer
(F):5'- AAATGCATTTTGTCCCGGCAG -3'
(R):5'- CTCTGGGAATTGACGTCTGTCC -3'
Posted On 2016-11-09