Incidental Mutation 'IGL02211:Cd28'
ID 284722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd28
Ensembl Gene ENSMUSG00000026012
Gene Name CD28 antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL02211
Quality Score
Status
Chromosome 1
Chromosomal Location 60785547-60812521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60802153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
Ref Sequence ENSEMBL: ENSMUSP00000027165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027165]
AlphaFold P31041
Predicted Effect probably damaging
Transcript: ENSMUST00000027165
AA Change: V24A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012
AA Change: V24A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 26 137 2.57e0 SMART
transmembrane domain 154 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153207
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 essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous mutation of this gene results in impairment of some T cell responses and decreased basal immunoglobulin levels. Mutant animals have reduced T helper cell activity and impaired T cell response to lectins, but cytotoxic T cells can still be induced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoc3 C A 9: 46,144,513 (GRCm39) probably benign Het
Atp8a2 C T 14: 60,265,425 (GRCm39) G304R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cct4 A G 11: 22,943,327 (GRCm39) probably benign Het
Cfap70 T C 14: 20,445,040 (GRCm39) N1080S probably damaging Het
Cpa6 A T 1: 10,665,861 (GRCm39) I59K possibly damaging Het
Cramp1 A G 17: 25,196,610 (GRCm39) S835P possibly damaging Het
Crim1 T C 17: 78,662,574 (GRCm39) L799S probably damaging Het
Cxcl16 T C 11: 70,346,858 (GRCm39) H95R possibly damaging Het
Dip2c T A 13: 9,660,883 (GRCm39) C915S probably damaging Het
Dytn T A 1: 63,714,089 (GRCm39) N137Y possibly damaging Het
Exoc5 T A 14: 49,251,667 (GRCm39) Q628L probably damaging Het
Flii A G 11: 60,609,124 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,853,121 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,648,591 (GRCm39) L830P probably damaging Het
Kank1 G T 19: 25,407,702 (GRCm39) G1232V probably damaging Het
Kcnmb2 A G 3: 32,252,483 (GRCm39) E228G probably damaging Het
Limk1 A T 5: 134,686,491 (GRCm39) V538E probably damaging Het
Mmp20 T A 9: 7,655,071 (GRCm39) I393K probably damaging Het
Mtmr1 A G X: 70,455,863 (GRCm39) D574G possibly damaging Het
Nr1h2 A C 7: 44,199,884 (GRCm39) M345R probably damaging Het
Nyap1 T C 5: 137,737,937 (GRCm39) H15R probably damaging Het
Or2ak4 G T 11: 58,649,196 (GRCm39) S235I possibly damaging Het
Or52h7 A T 7: 104,214,333 (GRCm39) K302* probably null Het
Pde4b T G 4: 102,448,019 (GRCm39) probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Ptges3 T C 10: 127,911,927 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,314,064 (GRCm39) S1595P probably benign Het
Rhbdf2 A G 11: 116,491,261 (GRCm39) F625L possibly damaging Het
Rhpn1 T C 15: 75,582,905 (GRCm39) S281P possibly damaging Het
Samd3 G T 10: 26,109,455 (GRCm39) G128W probably damaging Het
Septin5 T C 16: 18,443,629 (GRCm39) K51E probably damaging Het
Serpina7 G A X: 137,982,062 (GRCm39) T185I probably damaging Het
Slc25a25 A G 2: 32,307,452 (GRCm39) V303A probably damaging Het
Slc5a4b A T 10: 75,896,297 (GRCm39) probably benign Het
Srpk3 A T X: 72,818,754 (GRCm39) H114L probably benign Het
Sybu T G 15: 44,536,862 (GRCm39) Q360P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Wdsub1 G T 2: 59,689,080 (GRCm39) R381S probably damaging Het
Wscd1 G A 11: 71,679,801 (GRCm39) R558H probably damaging Het
Other mutations in Cd28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Cd28 APN 1 60,802,307 (GRCm39) nonsense probably null
IGL02598:Cd28 APN 1 60,802,498 (GRCm39) splice site probably benign
Iago UTSW 1 60,802,332 (GRCm39) nonsense probably null
Othello UTSW 1 60,802,487 (GRCm39) missense possibly damaging 0.87
R1195:Cd28 UTSW 1 60,802,303 (GRCm39) missense possibly damaging 0.95
R1195:Cd28 UTSW 1 60,802,303 (GRCm39) missense possibly damaging 0.95
R1195:Cd28 UTSW 1 60,802,303 (GRCm39) missense possibly damaging 0.95
R4472:Cd28 UTSW 1 60,802,393 (GRCm39) missense probably benign 0.00
R4877:Cd28 UTSW 1 60,808,861 (GRCm39) missense possibly damaging 0.95
R6410:Cd28 UTSW 1 60,804,442 (GRCm39) missense probably benign 0.05
R7201:Cd28 UTSW 1 60,802,332 (GRCm39) nonsense probably null
R7421:Cd28 UTSW 1 60,802,459 (GRCm39) missense probably benign 0.20
R7544:Cd28 UTSW 1 60,808,859 (GRCm39) missense probably damaging 1.00
R7596:Cd28 UTSW 1 60,802,487 (GRCm39) missense possibly damaging 0.87
R8547:Cd28 UTSW 1 60,785,681 (GRCm39) missense probably benign 0.02
R8822:Cd28 UTSW 1 60,808,820 (GRCm39) missense possibly damaging 0.53
R9682:Cd28 UTSW 1 60,804,505 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16