Incidental Mutation 'IGL01894:Gpa33'
ID179326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpa33
Ensembl Gene ENSMUSG00000000544
Gene Nameglycoprotein A33 (transmembrane)
Synonyms2010310L10Rik, A33 antigen, 2210401D16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01894
Quality Score
Status
Chromosome1
Chromosomal Location166130238-166166510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 166165216 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 299 (D299E)
Ref Sequence ENSEMBL: ENSMUSP00000125903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060833] [ENSMUST00000166860]
Predicted Effect probably benign
Transcript: ENSMUST00000060833
AA Change: D299E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: D299E

DomainStartEndE-ValueType
IGv 38 119 1.26e-9 SMART
IGc2 153 218 3.03e-12 SMART
transmembrane domain 235 257 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166860
AA Change: D299E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: D299E

DomainStartEndE-ValueType
IGv 38 119 1.26e-9 SMART
IGc2 153 218 3.03e-12 SMART
transmembrane domain 235 257 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis and impaired oral tolerance to ovalbumin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 55,871,830 I530L probably benign Het
Adam3 T C 8: 24,687,938 D653G probably benign Het
Car13 T C 3: 14,661,465 F227S probably damaging Het
Cdc27 T C 11: 104,526,921 N300S probably benign Het
Fat3 C T 9: 16,375,849 V793I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Kif5a C T 10: 127,262,779 V40I probably benign Het
Lama3 A G 18: 12,572,064 H1455R probably benign Het
Lamc1 T C 1: 153,247,082 K751E possibly damaging Het
Nek5 T A 8: 22,113,819 H114L probably damaging Het
Nipal1 G A 5: 72,663,539 A37T probably benign Het
Olfr1446 T C 19: 12,889,643 probably benign Het
Olfr1453 G T 19: 13,028,285 L15I probably damaging Het
Olfr538 T C 7: 140,574,770 Y206H possibly damaging Het
Pik3ca T C 3: 32,450,026 Y622H possibly damaging Het
Pknox2 G T 9: 36,923,742 H144N probably damaging Het
Ppp4r4 A G 12: 103,593,138 Y526C probably damaging Het
Prdm10 A G 9: 31,316,261 D54G probably damaging Het
Rpn2 C T 2: 157,294,173 T167I probably benign Het
Slc22a30 G T 19: 8,386,657 H218Q probably benign Het
Supt6 A G 11: 78,222,838 S878P probably benign Het
Tmem184c A T 8: 77,597,146 C362* probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wscd2 C T 5: 113,572,296 R294W probably damaging Het
Other mutations in Gpa33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Gpa33 APN 1 166165221 missense probably benign
IGL03132:Gpa33 APN 1 166152649 missense probably benign 0.00
R0433:Gpa33 UTSW 1 166163761 splice site probably benign
R0892:Gpa33 UTSW 1 166157642 missense probably damaging 0.98
R1854:Gpa33 UTSW 1 166165190 missense probably benign 0.00
R4233:Gpa33 UTSW 1 166146771 missense probably damaging 1.00
R4354:Gpa33 UTSW 1 166163835 missense possibly damaging 0.95
R5652:Gpa33 UTSW 1 166165145 critical splice acceptor site probably null
R5667:Gpa33 UTSW 1 166146791 missense possibly damaging 0.63
R5671:Gpa33 UTSW 1 166146791 missense possibly damaging 0.63
R5884:Gpa33 UTSW 1 166152760 missense probably damaging 0.98
R5918:Gpa33 UTSW 1 166130538 splice site probably null
R7402:Gpa33 UTSW 1 166152694 missense probably damaging 0.99
Z1176:Gpa33 UTSW 1 166164671 nonsense probably null
Posted On2014-05-07