Incidental Mutation 'R0969:Cd2'
ID 83977
Institutional Source Beutler Lab
Gene Symbol Cd2
Ensembl Gene ENSMUSG00000027863
Gene Name CD2 antigen
Synonyms LFA-2, Ly-37, Ly37
MMRRC Submission 039098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0969 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 101183224-101195255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101183371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 313 (I313F)
Ref Sequence ENSEMBL: ENSMUSP00000029456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029456]
AlphaFold P08920
Predicted Effect probably benign
Transcript: ENSMUST00000029456
AA Change: I313F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029456
Gene: ENSMUSG00000027863
AA Change: I313F

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: ENSMUST00000156103
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,277 (GRCm39) probably null Het
Afg1l T C 10: 42,194,617 (GRCm39) T392A probably damaging Het
Ccdc66 A G 14: 27,219,319 (GRCm39) S146P probably damaging Het
Ccl20 T A 1: 83,095,638 (GRCm39) probably benign Het
Cep350 A T 1: 155,816,572 (GRCm39) D374E possibly damaging Het
Cep85l T C 10: 53,157,592 (GRCm39) K602E probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dhx8 T C 11: 101,630,526 (GRCm39) probably benign Het
Epha3 A T 16: 63,386,999 (GRCm39) L878Q probably damaging Het
F2rl2 A T 13: 95,837,461 (GRCm39) T169S probably damaging Het
Gpx3 T C 11: 54,799,852 (GRCm39) probably benign Het
Ipo5 T A 14: 121,181,937 (GRCm39) V1010D possibly damaging Het
Nipbl A T 15: 8,321,712 (GRCm39) L2647Q probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or5d18 T C 2: 87,864,592 (GRCm39) D297G probably damaging Het
Pcnt T C 10: 76,263,785 (GRCm39) E393G probably damaging Het
Pibf1 C A 14: 99,433,822 (GRCm39) Q590K probably benign Het
Pkd1l1 T C 11: 8,886,898 (GRCm39) D367G probably damaging Het
Pnpla7 T C 2: 24,940,965 (GRCm39) Y1106H probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco5a1 C T 1: 13,060,116 (GRCm39) A202T probably damaging Het
Slco6c1 A C 1: 97,047,685 (GRCm39) I206R probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srek1 G A 13: 103,889,011 (GRCm39) probably benign Het
St8sia6 T A 2: 13,701,680 (GRCm39) R112S probably benign Het
Suclg1 T A 6: 73,248,099 (GRCm39) H273Q probably benign Het
Taf2 T A 15: 54,894,553 (GRCm39) probably null Het
Tctn1 A G 5: 122,379,840 (GRCm39) V566A probably benign Het
Trpm4 A G 7: 44,977,331 (GRCm39) probably benign Het
Trpv3 C T 11: 73,169,764 (GRCm39) Q112* probably null Het
Ttll8 T C 15: 88,818,138 (GRCm39) Y179C probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Upk1b A G 16: 38,607,661 (GRCm39) probably benign Het
Zfp961 T G 8: 72,722,139 (GRCm39) H217Q probably damaging Het
Other mutations in Cd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Cd2 APN 3 101,190,539 (GRCm39) missense probably damaging 0.99
IGL00770:Cd2 APN 3 101,190,345 (GRCm39) critical splice donor site probably null
IGL00774:Cd2 APN 3 101,190,345 (GRCm39) critical splice donor site probably null
R1120:Cd2 UTSW 3 101,194,804 (GRCm39) missense probably damaging 0.99
R1752:Cd2 UTSW 3 101,183,511 (GRCm39) missense probably benign 0.36
R1753:Cd2 UTSW 3 101,194,815 (GRCm39) missense possibly damaging 0.54
R4624:Cd2 UTSW 3 101,194,747 (GRCm39) missense probably benign 0.41
R5091:Cd2 UTSW 3 101,190,355 (GRCm39) missense probably benign 0.01
R9235:Cd2 UTSW 3 101,195,159 (GRCm39) missense probably benign 0.18
X0065:Cd2 UTSW 3 101,183,473 (GRCm39) missense probably damaging 1.00
Z1177:Cd2 UTSW 3 101,183,422 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGACCAAGTGACTGTGTAGCTGAATC -3'
(R):5'- GCTTCCAGAACAAGCACTGTGGAAAG -3'

Sequencing Primer
(F):5'- TGTGTAGCTGAATCAAAAGACACC -3'
(R):5'- AATTCAGTGGCGCTCCAAG -3'
Posted On 2013-11-08