Incidental Mutation 'R1653:Cd276'
ID 188863
Institutional Source Beutler Lab
Gene Symbol Cd276
Ensembl Gene ENSMUSG00000035914
Gene Name CD276 antigen
Synonyms B7RP-2, B7h3, 6030411F23Rik, B7-H3
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1653 (G1)
Quality Score 153
Status Not validated
Chromosome 9
Chromosomal Location 58431583-58462316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58444732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 80 (T80A)
Ref Sequence ENSEMBL: ENSMUSP00000129418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039788] [ENSMUST00000165365]
AlphaFold Q8VE98
Predicted Effect probably benign
Transcript: ENSMUST00000039788
AA Change: T80A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042681
Gene: ENSMUSG00000035914
AA Change: T80A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 35 139 6.81e-6 SMART
IG_like 156 227 2.85e-2 SMART
transmembrane domain 248 270 N/A INTRINSIC
low complexity region 279 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165365
AA Change: T80A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129418
Gene: ENSMUSG00000035914
AA Change: T80A

DomainStartEndE-ValueType
IG 35 139 6.81e-6 SMART
IG_like 156 227 2.85e-2 SMART
transmembrane domain 248 270 N/A INTRINSIC
low complexity region 279 294 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000213722
AA Change: T8A
Predicted Effect probably benign
Transcript: ENSMUST00000216629
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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 belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Inactivation of this locus results in abnormal T helper 1 physiology. Mutant mice have an increased susceptibility to inflammation and autoimmunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Cd276
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Cd276 APN 9 58,444,719 (GRCm39) missense possibly damaging 0.92
R0504:Cd276 UTSW 9 58,447,961 (GRCm39) missense possibly damaging 0.72
R1585:Cd276 UTSW 9 58,442,838 (GRCm39) missense probably damaging 1.00
R1806:Cd276 UTSW 9 58,434,845 (GRCm39) splice site probably benign
R2903:Cd276 UTSW 9 58,444,603 (GRCm39) missense probably benign 0.06
R7073:Cd276 UTSW 9 58,444,615 (GRCm39) missense probably damaging 0.98
R7448:Cd276 UTSW 9 58,442,895 (GRCm39) missense probably benign 0.07
R7701:Cd276 UTSW 9 58,442,810 (GRCm39) missense probably benign 0.12
R7894:Cd276 UTSW 9 58,444,762 (GRCm39) missense possibly damaging 0.46
R7936:Cd276 UTSW 9 58,448,113 (GRCm39) unclassified probably benign
R8195:Cd276 UTSW 9 58,444,755 (GRCm39) missense probably damaging 1.00
RF039:Cd276 UTSW 9 58,442,787 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTCAAAGTCCTGGATGCTCAC -3'
(R):5'- TCTGAGCCTCTGACCTGAAAGGAAG -3'

Sequencing Primer
(F):5'- GTCCTGGATGCTCACAAAGC -3'
(R):5'- GAGGAAACCTCATCTTTCCTAACTG -3'
Posted On 2014-05-09