Incidental Mutation 'IGL00770:Cd2'
ID277899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd2
Ensembl Gene ENSMUSG00000027863
Gene NameCD2 antigen
SynonymsLy-37, LFA-2, Ly37
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00770
Quality Score
Status
Chromosome3
Chromosomal Location101275899-101287939 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 101283029 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029456]
Predicted Effect probably null
Transcript: ENSMUST00000029456
SMART Domains Protein: ENSMUSP00000029456
Gene: ENSMUSG00000027863

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:V-set 23 121 3.5e-10 PFAM
Pfam:C2-set 129 199 4.1e-17 PFAM
transmembrane domain 206 228 N/A INTRINSIC
low complexity region 230 239 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 319 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152321
SMART Domains Protein: ENSMUSP00000116891
Gene: ENSMUSG00000027863

DomainStartEndE-ValueType
Pfam:V-set 1 75 2.6e-10 PFAM
Pfam:C2-set 85 139 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156103
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3' flanking sequence of this gene. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in Cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Cd2 APN 3 101283223 missense probably damaging 0.99
IGL00774:Cd2 APN 3 101283029 critical splice donor site probably null
R0969:Cd2 UTSW 3 101276055 missense probably benign 0.39
R1120:Cd2 UTSW 3 101287488 missense probably damaging 0.99
R1752:Cd2 UTSW 3 101276195 missense probably benign 0.36
R1753:Cd2 UTSW 3 101287499 missense possibly damaging 0.54
R4624:Cd2 UTSW 3 101287431 missense probably benign 0.41
R5091:Cd2 UTSW 3 101283039 missense probably benign 0.01
X0065:Cd2 UTSW 3 101276157 missense probably damaging 1.00
Z1177:Cd2 UTSW 3 101276106 missense probably damaging 1.00
Posted On2015-04-16