Incidental Mutation 'IGL03051:Gpa33'
ID409047
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 #IGL03051
Quality Score
Status
Chromosome1
Chromosomal Location166130238-166166510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 166165221 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 301 (H301R)
Ref Sequence ENSEMBL: ENSMUSP00000125903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060833] [ENSMUST00000166860]
Predicted Effect probably benign
Transcript: ENSMUST00000060833
AA Change: H301R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: H301R

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: H301R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: H301R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Gpa33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01894:Gpa33 APN 1 166165216 missense probably benign 0.11
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
R8485:Gpa33 UTSW 1 166164692 missense probably benign
R8924:Gpa33 UTSW 1 166152782 missense probably damaging 1.00
Z1176:Gpa33 UTSW 1 166164671 nonsense probably null
Posted On2016-08-02