Incidental Mutation 'R0786:Rhbg'
ID 76841
Institutional Source Beutler Lab
Gene Symbol Rhbg
Ensembl Gene ENSMUSG00000104445
Gene Name Rhesus blood group-associated B glycoprotein
Synonyms
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88150181-88162016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88151875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 394 (M394I)
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: M372I
SMART Domains Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: M372I

DomainStartEndE-ValueType
Pfam:Ammonium_transp 1 353 9.7e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171887
AA Change: M394I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: M394I

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:Ammonium_transp 22 419 5.9e-74 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Rhbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0496:Rhbg UTSW 3 88,161,805 (GRCm39) missense probably benign
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
R5032:Rhbg UTSW 3 88,152,441 (GRCm39) missense probably damaging 1.00
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'- CACAGGCAGGTGTTCTGAGAGAATC -3'
(R):5'- GCAGGCAAAAGAGACCTTTGACTGG -3'

Sequencing Primer
(F):5'- CTTGGTGGAAGTGAGCCTACAG -3'
(R):5'- CACTTGAAGTGAACCTGACTG -3'
Posted On 2013-10-16