Incidental Mutation 'IGL02733:Gypc'
ID 305567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gypc
Ensembl Gene ENSMUSG00000090523
Gene Name glycophorin C
Synonyms Gerbich antigen, 0610037F22Rik, Cd236r
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02733
Quality Score
Status
Chromosome 18
Chromosomal Location 32661375-32693087 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 32692879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174000] [ENSMUST00000174459]
AlphaFold Q78HU7
Predicted Effect probably benign
Transcript: ENSMUST00000174000
SMART Domains Protein: ENSMUSP00000133874
Gene: ENSMUSG00000090523

DomainStartEndE-ValueType
4.1m 30 48 1.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174459
SMART Domains Protein: ENSMUSP00000134317
Gene: ENSMUSG00000090523

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
4.1m 47 65 1.55e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 (GRCm39) T245S probably benign Het
Agl T C 3: 116,574,646 (GRCm39) I718V probably benign Het
Cbs T A 17: 31,844,005 (GRCm39) N209Y probably benign Het
Cd163 T C 6: 124,302,300 (GRCm39) C955R probably damaging Het
Dnajb3 A G 1: 88,132,662 (GRCm39) probably benign Het
Dop1b G A 16: 93,536,079 (GRCm39) R59Q possibly damaging Het
Dtx1 A G 5: 120,819,500 (GRCm39) L566P probably damaging Het
Fgf14 G T 14: 124,221,213 (GRCm39) P197Q probably damaging Het
Gask1a A G 9: 121,794,094 (GRCm39) R83G probably benign Het
Gcc1 G A 6: 28,420,661 (GRCm39) Q66* probably null Het
Helz2 G A 2: 180,876,819 (GRCm39) A1225V probably benign Het
Herc1 A G 9: 66,358,274 (GRCm39) T2452A probably benign Het
Hoxc4 A G 15: 102,943,152 (GRCm39) I2V probably benign Het
Impa1 A G 3: 10,394,025 (GRCm39) I14T probably benign Het
Itih1 T A 14: 30,658,677 (GRCm39) D400V probably damaging Het
Lama3 T C 18: 12,711,184 (GRCm39) Y3206H probably damaging Het
Lce1k T A 3: 92,714,192 (GRCm39) probably benign Het
Mcpt4 C T 14: 56,298,124 (GRCm39) M142I probably benign Het
Myo15b A G 11: 115,775,076 (GRCm39) E2168G probably benign Het
Myom3 G T 4: 135,541,614 (GRCm39) E1402* probably null Het
Nfyb G T 10: 82,590,867 (GRCm39) Q55K probably damaging Het
Nobox T C 6: 43,284,136 (GRCm39) K137E possibly damaging Het
Pnlip T A 19: 58,669,220 (GRCm39) D406E probably benign Het
Pole A T 5: 110,460,594 (GRCm39) probably benign Het
Ppp2r2b T C 18: 42,781,793 (GRCm39) Y336C possibly damaging Het
Prkg1 T C 19: 31,279,701 (GRCm39) T178A probably damaging Het
Prr11 C T 11: 86,994,371 (GRCm39) A92T possibly damaging Het
Racgap1 G T 15: 99,537,585 (GRCm39) S67R probably damaging Het
Scn10a G A 9: 119,445,771 (GRCm39) P1462S probably damaging Het
Sptbn1 T C 11: 30,147,747 (GRCm39) E29G probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Vmn2r72 T A 7: 85,401,021 (GRCm39) T133S probably benign Het
Zbtb20 A G 16: 43,430,296 (GRCm39) H269R possibly damaging Het
Zwilch A T 9: 64,054,118 (GRCm39) N526K probably benign Het
Other mutations in Gypc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02590:Gypc APN 18 32,663,060 (GRCm39) makesense probably null
R6019:Gypc UTSW 18 32,663,248 (GRCm39) missense probably damaging 0.99
X0054:Gypc UTSW 18 32,663,063 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16