Incidental Mutation 'IGL00645:Cd2'
ID9484
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 #IGL00645
Quality Score
Status
Chromosome3
Chromosomal Location101275899-101287939 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101283223 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 135 (N135D)
Ref Sequence ENSEMBL: ENSMUSP00000029456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029456]
Predicted Effect probably damaging
Transcript: ENSMUST00000029456
AA Change: N135D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029456
Gene: ENSMUSG00000027863
AA Change: N135D

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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,576,313 D112G probably damaging Het
Coq10b A G 1: 55,061,309 T51A probably benign Het
Cst10 T A 2: 149,409,979 C125S probably damaging Het
Fam135b A G 15: 71,462,546 V933A probably damaging Het
Fbn1 A G 2: 125,317,103 probably benign Het
Kcna10 G A 3: 107,195,465 E471K possibly damaging Het
Msl1 T A 11: 98,805,421 C598S probably damaging Het
Nup35 T A 2: 80,654,832 F192L probably damaging Het
Sec16b T A 1: 157,566,719 V1026D probably damaging Het
Serpina3f T C 12: 104,217,340 F154L probably benign Het
Other mutations in Cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Cd2 APN 3 101283029 critical splice donor site probably null
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 On2012-12-06