Incidental Mutation 'R1372:Rhcg'
ID 157366
Institutional Source Beutler Lab
Gene Symbol Rhcg
Ensembl Gene ENSMUSG00000030549
Gene Name Rhesus blood group-associated C glycoprotein
Synonyms
MMRRC Submission 039436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1372 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79243111-79267405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79249122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 366 (D366E)
Ref Sequence ENSEMBL: ENSMUSP00000032766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032766] [ENSMUST00000161084]
AlphaFold Q9QXP0
Predicted Effect probably benign
Transcript: ENSMUST00000032766
AA Change: D366E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032766
Gene: ENSMUSG00000030549
AA Change: D366E

DomainStartEndE-ValueType
Pfam:Ammonium_transp 45 436 1.8e-81 PFAM
low complexity region 469 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161084
SMART Domains Protein: ENSMUSP00000134005
Gene: ENSMUSG00000030549

DomainStartEndE-ValueType
PDB:3HD6|A 1 60 1e-26 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206746
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging 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
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
R9550:Rhcg UTSW 7 79,248,296 (GRCm39) missense probably damaging 1.00
Z1177:Rhcg UTSW 7 79,244,579 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCTCTTGAAACCCTAAGCCTTCCTG -3'
(R):5'- GCGGAGATGATGCTCACACCTTAC -3'

Sequencing Primer
(F):5'- CTAAGCCTTCCTGCTAGATGG -3'
(R):5'- AGGACACATGTGGCATTCAC -3'
Posted On 2014-02-18