Incidental Mutation 'R5032:Rhbg'
ID 450634
Institutional Source Beutler Lab
Gene Symbol Rhbg
Ensembl Gene ENSMUSG00000104445
Gene Name Rhesus blood group-associated B glycoprotein
Synonyms
MMRRC Submission 042623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5032 (G1)
Quality Score 213
Status Validated
Chromosome 3
Chromosomal Location 88150181-88162016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88152441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 368 (G368C)
Ref Sequence ENSEMBL: ENSMUSP00000130767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171887]
AlphaFold Q8BUX5
Predicted Effect probably benign
Transcript: ENSMUST00000163277
Predicted Effect unknown
Transcript: ENSMUST00000165196
AA Change: G346C
SMART Domains Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: G346C

DomainStartEndE-ValueType
Pfam:Ammonium_transp 1 353 9.7e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171887
AA Change: G368C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: G368C

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:Ammonium_transp 22 419 5.9e-74 PFAM
Meta Mutation Damage Score 0.6179 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency 97% (77/79)
MGI Phenotype 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
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Actl9 A G 17: 33,653,062 (GRCm39) N374S probably benign Het
Adam34l T C 8: 44,079,508 (GRCm39) N239D probably damaging Het
Ahcyl2 T A 6: 29,768,555 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,720,464 (GRCm39) M1501T probably benign Het
Asb17 A T 3: 153,550,175 (GRCm39) D69V probably damaging Het
Atp13a5 T C 16: 29,082,202 (GRCm39) Y877C probably damaging Het
Atrip T C 9: 108,894,271 (GRCm39) Q64R probably benign Het
Auts2 A G 5: 131,505,730 (GRCm39) probably benign Het
Cacna2d1 G T 5: 16,564,068 (GRCm39) R893L probably damaging Het
Ccdc138 C T 10: 58,409,458 (GRCm39) R596C probably damaging Het
Cd163 A G 6: 124,288,628 (GRCm39) Y353C probably damaging Het
Cdon T C 9: 35,400,330 (GRCm39) Y1015H probably damaging Het
Chsy3 T C 18: 59,312,543 (GRCm39) Y339H probably damaging Het
Cspp1 T C 1: 10,136,744 (GRCm39) W190R probably benign Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Duox1 G A 2: 122,167,798 (GRCm39) R1027H probably benign Het
Dync1h1 C T 12: 110,593,326 (GRCm39) Q1198* probably null Het
Ecel1 G A 1: 87,081,975 (GRCm39) S246L probably damaging Het
Fam228b T G 12: 4,813,042 (GRCm39) R109S probably damaging Het
Fut9 T A 4: 25,799,245 (GRCm39) probably benign Het
Gm5592 A G 7: 40,939,159 (GRCm39) R814G probably damaging Het
Gmps A G 3: 63,897,746 (GRCm39) K233E probably benign Het
Gramd1c A G 16: 43,811,026 (GRCm39) Y438H probably damaging Het
Gsdmc A T 15: 63,673,882 (GRCm39) D134E possibly damaging Het
Gxylt2 A G 6: 100,760,142 (GRCm39) I226V probably benign Het
Hc T C 2: 34,903,544 (GRCm39) I1037V probably benign Het
Hspa4 T G 11: 53,179,950 (GRCm39) R69S possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Kifc3 A G 8: 95,829,354 (GRCm39) S508P probably damaging Het
Krt7 G A 15: 101,310,428 (GRCm39) R25H probably benign Het
Lhfpl6 T A 3: 52,950,854 (GRCm39) S43T possibly damaging Het
Lrrc7 T A 3: 157,887,217 (GRCm39) K394N possibly damaging Het
Lypd4 A T 7: 24,566,240 (GRCm39) L28Q probably damaging Het
Mdc1 A G 17: 36,161,481 (GRCm39) E798G probably benign Het
Mta1 T A 12: 113,097,145 (GRCm39) probably null Het
Mtg2 A T 2: 179,725,183 (GRCm39) Q132L possibly damaging Het
Myh1 G T 11: 67,096,874 (GRCm39) E382* probably null Het
Myo3a T C 2: 22,287,413 (GRCm39) L175P probably damaging Het
Nckap5 A T 1: 125,904,786 (GRCm39) F144L possibly damaging Het
Nfrkb T A 9: 31,300,351 (GRCm39) probably null Het
Nmt2 C T 2: 3,285,429 (GRCm39) P5L probably benign Het
Nsmf T C 2: 24,945,073 (GRCm39) probably null Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or5a1 T A 19: 12,097,420 (GRCm39) I219F probably benign Het
Pcdhgc3 T A 18: 37,940,638 (GRCm39) N346K probably damaging Het
Pcnt G A 10: 76,190,911 (GRCm39) P2791S probably benign Het
Pdia3 A G 2: 121,244,620 (GRCm39) N11S probably benign Het
Pik3c2g A T 6: 139,841,928 (GRCm39) T778S probably benign Het
Pik3ip1 T A 11: 3,283,520 (GRCm39) I75N probably damaging Het
Pla2g4d A T 2: 120,112,176 (GRCm39) Y118* probably null Het
Ppargc1b A G 18: 61,440,336 (GRCm39) S845P probably damaging Het
Prdm2 A T 4: 142,905,937 (GRCm39) L50* probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,053,140 (GRCm39) V926I probably benign Het
Rab11fip2 A T 19: 59,925,799 (GRCm39) N139K probably damaging Het
Rcn2 T A 9: 55,960,300 (GRCm39) M189K probably damaging Het
Rev1 A T 1: 38,113,570 (GRCm39) probably benign Het
Rnf214 A G 9: 45,811,042 (GRCm39) probably null Het
Sf3a3 T C 4: 124,618,959 (GRCm39) S307P probably benign Het
Slc6a18 T A 13: 73,814,442 (GRCm39) Y494F probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag16 T G 1: 69,892,511 (GRCm39) N97K probably benign Het
Tmem192 T C 8: 65,412,163 (GRCm39) V114A possibly damaging Het
Urb1 G T 16: 90,553,059 (GRCm39) P1901T probably benign Het
Vwa5b2 A G 16: 20,419,459 (GRCm39) T601A probably damaging Het
Wdtc1 G T 4: 133,036,162 (GRCm39) T126K possibly damaging Het
Xirp2 T C 2: 67,356,014 (GRCm39) Y3592H possibly damaging Het
Xylt2 A T 11: 94,560,842 (GRCm39) V232E probably damaging Het
Other mutations in Rhbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0496:Rhbg UTSW 3 88,161,805 (GRCm39) missense probably benign
R0786:Rhbg UTSW 3 88,151,875 (GRCm39) missense probably benign 0.04
R1397:Rhbg UTSW 3 88,155,753 (GRCm39) missense probably benign 0.14
R1737:Rhbg UTSW 3 88,153,181 (GRCm39) missense probably damaging 1.00
R1927:Rhbg UTSW 3 88,151,859 (GRCm39) missense probably benign 0.00
R2088:Rhbg UTSW 3 88,154,765 (GRCm39) missense probably damaging 1.00
R3976:Rhbg UTSW 3 88,151,843 (GRCm39) missense probably damaging 1.00
R4056:Rhbg UTSW 3 88,150,755 (GRCm39) missense probably damaging 1.00
R4669:Rhbg UTSW 3 88,153,273 (GRCm39) missense probably damaging 1.00
R4878:Rhbg UTSW 3 88,154,760 (GRCm39) missense probably benign 0.43
R5330:Rhbg UTSW 3 88,152,775 (GRCm39) missense probably benign 0.10
R5331:Rhbg UTSW 3 88,152,775 (GRCm39) missense probably benign 0.10
R5788:Rhbg UTSW 3 88,152,874 (GRCm39) missense probably benign 0.00
R6293:Rhbg UTSW 3 88,153,133 (GRCm39) nonsense probably null
R6882:Rhbg UTSW 3 88,152,527 (GRCm39) missense probably damaging 1.00
R7493:Rhbg UTSW 3 88,154,886 (GRCm39) missense probably damaging 1.00
R7944:Rhbg UTSW 3 88,155,007 (GRCm39) missense probably benign 0.19
R8024:Rhbg UTSW 3 88,155,760 (GRCm39) missense probably damaging 1.00
R8358:Rhbg UTSW 3 88,152,525 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTACCTCTTGCTGGTCCTGAAG -3'
(R):5'- ACTCTGTTTATCCAAGCCTGAC -3'

Sequencing Primer
(F):5'- TCCTGAAGGAATGCTCAGTGCTC -3'
(R):5'- TATCCAAGCCTGACTCTCCAC -3'
Posted On 2016-12-27