Incidental Mutation 'R7421:Cd28'
ID 575640
Institutional Source Beutler Lab
Gene Symbol Cd28
Ensembl Gene ENSMUSG00000026012
Gene Name CD28 antigen
Synonyms
MMRRC Submission 045499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R7421 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 60785547-60812521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60802459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 126 (N126S)
Ref Sequence ENSEMBL: ENSMUSP00000027165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027165]
AlphaFold P31041
Predicted Effect probably benign
Transcript: ENSMUST00000027165
AA Change: N126S

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012
AA Change: N126S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 26 137 2.57e0 SMART
transmembrane domain 154 176 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T C 2: 156,397,915 (GRCm39) I309T possibly damaging Het
Abca12 A C 1: 71,286,295 (GRCm39) L2513* probably null Het
Abca13 G C 11: 9,460,463 (GRCm39) V4158L probably benign Het
Acaca A G 11: 84,254,562 (GRCm39) T1880A possibly damaging Het
Arhgap5 C T 12: 52,564,783 (GRCm39) R585C probably benign Het
Arsk A C 13: 76,210,634 (GRCm39) I471S possibly damaging Het
Asb7 T C 7: 66,309,868 (GRCm39) D116G probably damaging Het
Atad2 A G 15: 57,998,322 (GRCm39) S17P probably benign Het
Atf5 T C 7: 44,464,562 (GRCm39) E10G probably damaging Het
B3gntl1 G T 11: 121,515,004 (GRCm39) P255T probably benign Het
Cacna1s A G 1: 136,014,540 (GRCm39) N649S probably damaging Het
Ccnc A G 4: 21,743,291 (GRCm39) Y192C probably damaging Het
Cep57 A G 9: 13,721,969 (GRCm39) S360P possibly damaging Het
Ces1e C T 8: 93,941,703 (GRCm39) V257I probably benign Het
Chd1 A G 17: 15,969,660 (GRCm39) K913R probably benign Het
Cluap1 A T 16: 3,758,657 (GRCm39) D373V probably damaging Het
Cnmd T C 14: 79,882,947 (GRCm39) I160V probably benign Het
Col6a4 G A 9: 105,897,994 (GRCm39) P1686S probably damaging Het
Coro7 G T 16: 4,486,615 (GRCm39) A186E probably benign Het
Cuta T C 17: 27,158,431 (GRCm39) probably benign Het
Dnah2 G A 11: 69,383,631 (GRCm39) H1098Y probably benign Het
Duox1 T A 2: 122,153,711 (GRCm39) C345S probably damaging Het
Ephb4 T A 5: 137,352,687 (GRCm39) I90K possibly damaging Het
Erich3 T A 3: 154,439,198 (GRCm39) M280K probably damaging Het
Fcer2a T A 8: 3,740,335 (GRCm39) H4L probably benign Het
Grk1 A T 8: 13,455,316 (GRCm39) I67F probably damaging Het
Grm8 A C 6: 27,762,476 (GRCm39) S250A possibly damaging Het
H2-Q6 A G 17: 35,644,204 (GRCm39) E62G possibly damaging Het
Inppl1 C T 7: 101,482,144 (GRCm39) R144H probably damaging Het
Itga3 G T 11: 94,959,681 (GRCm39) P33Q probably benign Het
Itgax G A 7: 127,739,604 (GRCm39) S672N probably damaging Het
Itpk1 A T 12: 102,540,324 (GRCm39) V253E possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Mrps7 T C 11: 115,495,717 (GRCm39) V85A probably benign Het
Muc2 T C 7: 141,301,863 (GRCm39) L427P Het
Myef2 G T 2: 124,952,537 (GRCm39) Q185K probably benign Het
Or1e1b-ps1 G T 11: 73,846,335 (GRCm39) C273F unknown Het
Or4a76 T A 2: 89,460,915 (GRCm39) D109V probably damaging Het
Pcdh15 G A 10: 74,289,897 (GRCm39) M905I possibly damaging Het
Pgm5 C T 19: 24,686,663 (GRCm39) V515M probably benign Het
Pik3r1 A G 13: 101,825,644 (GRCm39) I381T probably damaging Het
Pla2g4f A G 2: 120,137,737 (GRCm39) M341T probably benign Het
Prmt2 A G 10: 76,056,912 (GRCm39) F204L probably benign Het
Pwwp3a T A 10: 80,068,587 (GRCm39) S244T probably benign Het
Rasa2 A G 9: 96,493,500 (GRCm39) V50A unknown Het
Scn7a A C 2: 66,505,876 (GRCm39) I1671S probably benign Het
Sco2 G A 15: 89,255,923 (GRCm39) R244C possibly damaging Het
Skic3 A T 13: 76,296,944 (GRCm39) K1100N probably benign Het
Slfn1 A G 11: 83,011,967 (GRCm39) M28V possibly damaging Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Slfn9 A G 11: 82,878,562 (GRCm39) I189T probably damaging Het
Svil T A 18: 5,056,109 (GRCm39) S327R probably benign Het
Tcaf3 A T 6: 42,573,776 (GRCm39) N145K probably benign Het
Trarg1 G A 11: 76,585,051 (GRCm39) R147Q unknown Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Upp2 G T 2: 58,661,586 (GRCm39) V130F possibly damaging Het
Vnn3 G A 10: 23,741,666 (GRCm39) A324T probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp39 A T 11: 58,780,933 (GRCm39) C610S probably 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
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
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'- AACAGCGACGTGGAAGTCTG -3'
(R):5'- AGAGGCATTCCAAATAAGCTGG -3'

Sequencing Primer
(F):5'- CTGTGTCGGGAATGGGAATTTTACC -3'
(R):5'- CCAAATAAGCTGGAATCATTGCTGG -3'
Posted On 2019-10-07