Incidental Mutation 'R3976:Rhbg'
ID 312629
Institutional Source Beutler Lab
Gene Symbol Rhbg
Ensembl Gene ENSMUSG00000104445
Gene Name Rhesus blood group-associated B glycoprotein
Synonyms
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3976 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88150181-88162016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88151843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 383 (G383V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171887]
AlphaFold Q8BUX5
Predicted Effect probably benign
Transcript: ENSMUST00000163277
Predicted Effect probably damaging
Transcript: ENSMUST00000165196
AA Change: G383V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: G383V

DomainStartEndE-ValueType
Pfam:Ammonium_transp 1 353 9.7e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171887
AA Change: G405V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: G405V

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:Ammonium_transp 22 419 5.9e-74 PFAM
Meta Mutation Damage Score 0.7206 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Bola3 T C 6: 83,328,249 (GRCm39) L45P probably benign Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxo16 T A 14: 65,524,606 (GRCm39) L42Q probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or2k2 A G 4: 58,785,164 (GRCm39) L186P probably damaging Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rab18 T A 18: 6,778,529 (GRCm39) D53E probably benign Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign 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
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'- ACCAGTACCTCCTCACTCTGAG -3'
(R):5'- GAACCTGACTGAGCAAAGGC -3'

Sequencing Primer
(F):5'- TCACTCTGAGGCCATGCTG -3'
(R):5'- TGAGAGACGCTGGGGATCC -3'
Posted On 2015-04-30