Incidental Mutation 'R9550:Rhcg'
ID 720435
Institutional Source Beutler Lab
Gene Symbol Rhcg
Ensembl Gene ENSMUSG00000030549
Gene Name Rhesus blood group-associated C glycoprotein
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9550 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79243111-79267405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79248296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 436 (Y436C)
Ref Sequence ENSEMBL: ENSMUSP00000032766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032766]
AlphaFold Q9QXP0
Predicted Effect probably damaging
Transcript: ENSMUST00000032766
AA Change: Y436C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032766
Gene: ENSMUSG00000030549
AA Change: Y436C

DomainStartEndE-ValueType
Pfam:Ammonium_transp 45 436 1.8e-81 PFAM
low complexity region 469 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172788
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele have reduced ability to excrete ammonium in their urine and have reduced male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,022,120 (GRCm39) C457R probably damaging Het
Adamts9 A T 6: 92,878,429 (GRCm39) V546E probably benign Het
Add3 G A 19: 53,233,521 (GRCm39) E641K possibly damaging Het
Anks1b T A 10: 90,412,360 (GRCm39) M1K probably null Het
C1s2 G A 6: 124,605,253 (GRCm39) Q361* probably null Het
Casp4 T C 9: 5,328,465 (GRCm39) S316P probably damaging Het
Cby2 A G 14: 75,820,603 (GRCm39) V374A probably damaging Het
Cdyl A G 13: 36,000,147 (GRCm39) T143A probably benign Het
Cep85 T C 4: 133,858,598 (GRCm39) T760A probably damaging Het
Chd2 A G 7: 73,119,439 (GRCm39) L1035P probably damaging Het
Cpne8 T C 15: 90,453,760 (GRCm39) I208V probably benign Het
Cux1 A G 5: 136,340,387 (GRCm39) L641P probably damaging Het
Dlgap1 T A 17: 71,093,902 (GRCm39) M741K possibly damaging Het
Dnajc16 T C 4: 141,495,058 (GRCm39) Y518C possibly damaging Het
Dtnb A G 12: 3,768,437 (GRCm39) N343D possibly damaging Het
Dusp3 A T 11: 101,872,668 (GRCm39) S43T probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Espn C T 4: 152,215,534 (GRCm39) R575H probably damaging Het
Gls A T 1: 52,251,373 (GRCm39) L328* probably null Het
H2-T23 T C 17: 36,342,712 (GRCm39) D142G probably damaging Het
Hck A G 2: 152,976,651 (GRCm39) M262V probably benign Het
Igkv14-126 G T 6: 67,873,199 (GRCm39) L13F possibly damaging Het
Muc2 C T 7: 141,308,242 (GRCm39) R913C probably damaging Het
Mypop A T 7: 18,726,245 (GRCm39) T71S probably damaging Het
Nadsyn1 A G 7: 143,353,615 (GRCm39) I536T probably damaging Het
Obsl1 T C 1: 75,474,910 (GRCm39) E830G possibly damaging Het
Or1q1 T A 2: 36,887,137 (GRCm39) I105N probably damaging Het
Or8d2b T C 9: 38,788,937 (GRCm39) V155A probably benign Het
Pcdha8 A T 18: 37,127,399 (GRCm39) Y627F possibly damaging Het
Polr1b T A 2: 128,962,205 (GRCm39) S742R unknown Het
Ppm1e A T 11: 87,121,919 (GRCm39) N679K probably benign Het
Raly AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG AGCAGCAGTGGTGGAGG 2: 154,705,754 (GRCm39) probably benign Het
Rgs12 G T 5: 35,196,665 (GRCm39) G1430C probably damaging Het
Ripor3 T C 2: 167,822,807 (GRCm39) D918G probably benign Het
Rlf A G 4: 121,003,620 (GRCm39) F1897L probably damaging Het
Sin3a T C 9: 56,996,768 (GRCm39) V99A probably benign Het
Slc22a29 A T 19: 8,195,224 (GRCm39) L137* probably null Het
Sufu A G 19: 46,385,675 (GRCm39) Y45C probably damaging Het
Thsd1 C T 8: 22,733,026 (GRCm39) probably benign Het
Tiam2 T A 17: 3,559,706 (GRCm39) L1249Q probably damaging Het
Toe1 C T 4: 116,661,916 (GRCm39) V418M probably benign Het
Trappc12 T C 12: 28,761,985 (GRCm39) probably null Het
Triobp A G 15: 78,858,077 (GRCm39) D1226G probably damaging Het
Zfhx4 T C 3: 5,464,572 (GRCm39) S1602P probably damaging Het
Zfp266 T C 9: 20,410,482 (GRCm39) K565R probably damaging Het
Zfp319 T C 8: 96,055,025 (GRCm39) T393A probably benign Het
Other mutations in Rhcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Rhcg APN 7 79,248,342 (GRCm39) missense probably benign 0.03
IGL01671:Rhcg APN 7 79,248,299 (GRCm39) missense probably benign 0.13
IGL01821:Rhcg APN 7 79,248,346 (GRCm39) missense probably benign 0.19
R0591:Rhcg UTSW 7 79,244,520 (GRCm39) splice site probably benign
R0662:Rhcg UTSW 7 79,249,477 (GRCm39) missense probably damaging 1.00
R1372:Rhcg UTSW 7 79,249,122 (GRCm39) missense probably benign 0.00
R3978:Rhcg UTSW 7 79,267,147 (GRCm39) missense probably benign 0.00
R4625:Rhcg UTSW 7 79,251,352 (GRCm39) missense probably damaging 1.00
R5729:Rhcg UTSW 7 79,250,371 (GRCm39) missense probably damaging 1.00
R5997:Rhcg UTSW 7 79,250,262 (GRCm39) nonsense probably null
R6414:Rhcg UTSW 7 79,248,716 (GRCm39) critical splice donor site probably null
R6964:Rhcg UTSW 7 79,250,279 (GRCm39) missense probably benign 0.44
R7089:Rhcg UTSW 7 79,249,216 (GRCm39) missense probably damaging 0.99
R7161:Rhcg UTSW 7 79,267,189 (GRCm39) missense probably damaging 1.00
R9183:Rhcg UTSW 7 79,244,564 (GRCm39) nonsense probably null
Z1177:Rhcg UTSW 7 79,244,579 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGACATTCCAGGTTCCAGC -3'
(R):5'- AGCATGTCTTAAGGGTGGGC -3'

Sequencing Primer
(F):5'- AGGCTGCTCCTGTGACTC -3'
(R):5'- CTTAAGGGTGGGCCTGGGAAG -3'
Posted On 2022-08-09