Incidental Mutation 'R1195:Cd28'
ID 101021
Institutional Source Beutler Lab
Gene Symbol Cd28
Ensembl Gene ENSMUSG00000026012
Gene Name CD28 antigen
Synonyms
MMRRC Submission 039267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R1195 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 60785547-60812521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60802303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 74 (T74I)
Ref Sequence ENSEMBL: ENSMUSP00000027165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027165]
AlphaFold P31041
Predicted Effect possibly damaging
Transcript: ENSMUST00000027165
AA Change: T74I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012
AA Change: T74I

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 81.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a C A 13: 30,565,901 (GRCm39) P322Q probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brd1 T C 15: 88,585,014 (GRCm39) E940G probably benign Het
Cntnap2 T A 6: 46,460,902 (GRCm39) M646K probably benign Het
Cyb5d1 C T 11: 69,285,797 (GRCm39) probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dst A G 1: 34,250,235 (GRCm39) D4063G probably damaging Het
Elmod1 T C 9: 53,843,052 (GRCm39) Y42C probably damaging Het
Hdac5 T C 11: 102,096,332 (GRCm39) I310V probably damaging Het
Ighv10-1 A T 12: 114,443,015 (GRCm39) probably benign Het
Igsf3 A G 3: 101,365,419 (GRCm39) D1130G probably benign Het
Katnip A G 7: 125,465,654 (GRCm39) R1343G probably damaging Het
Kdm4d A G 9: 14,374,395 (GRCm39) S488P probably benign Het
Lingo2 A G 4: 35,708,538 (GRCm39) Y481H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Map3k20 C T 2: 72,268,562 (GRCm39) P523L probably damaging Het
Msx1 A G 5: 37,978,625 (GRCm39) Y297H probably damaging Het
Myo9a A G 9: 59,802,483 (GRCm39) D1990G probably damaging Het
Niban2 T C 2: 32,809,815 (GRCm39) V304A probably benign Het
Perp C A 10: 18,731,483 (GRCm39) Y147* probably null Het
Prr16 A T 18: 51,435,755 (GRCm39) D78V probably damaging Het
Rfx7 C T 9: 72,525,228 (GRCm39) T806M probably damaging Het
Robo2 T C 16: 73,713,016 (GRCm39) probably null Het
Sema5b A T 16: 35,472,030 (GRCm39) E496V probably null Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Spdl1 T C 11: 34,710,644 (GRCm39) Y368C probably damaging Het
Sptbn2 G C 19: 4,795,921 (GRCm39) R1700P possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tln2 T G 9: 67,165,848 (GRCm39) K1000Q probably damaging Het
Tmbim7 A G 5: 3,711,943 (GRCm39) T63A probably benign Het
Tmed11 T C 5: 108,926,885 (GRCm39) D129G possibly damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttll6 T C 11: 96,026,555 (GRCm39) I113T probably damaging Het
Uso1 T A 5: 92,318,606 (GRCm39) F210L probably damaging Het
Uspl1 T A 5: 149,131,131 (GRCm39) V224E probably benign Het
Zfp639 G A 3: 32,573,345 (GRCm39) V86I possibly damaging Het
Other mutations in Cd28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Cd28 APN 1 60,802,307 (GRCm39) nonsense probably null
IGL02211:Cd28 APN 1 60,802,153 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATTTTGGTAAAGCAGTCGCCCC -3'
(R):5'- AGTCTCAGATCACATGCGAGAGCC -3'

Sequencing Primer
(F):5'- CCTGCTTGTGGTAGATAGCAAC -3'
(R):5'- CAACCGTCCTTTAGGTTACAGGAG -3'
Posted On 2014-01-15