Incidental Mutation 'R8195:Cd276'
ID 635404
Institutional Source Beutler Lab
Gene Symbol Cd276
Ensembl Gene ENSMUSG00000035914
Gene Name CD276 antigen
Synonyms B7RP-2, B7h3, 6030411F23Rik, B7-H3
MMRRC Submission 067618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R8195 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58431583-58462316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58444755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 72 (T72I)
Ref Sequence ENSEMBL: ENSMUSP00000042681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039788] [ENSMUST00000165365]
AlphaFold Q8VE98
PDB Structure Crystal structure of murine B7-H3 extracellular domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000039788
AA Change: T72I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042681
Gene: ENSMUSG00000035914
AA Change: T72I

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 damaging
Transcript: ENSMUST00000165365
AA Change: T72I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129418
Gene: ENSMUSG00000035914
AA Change: T72I

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
Meta Mutation Damage Score 0.2370 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,224,735 (GRCm39) G483R probably benign Het
Abca9 T C 11: 110,029,155 (GRCm39) D801G probably benign Het
Aldob T C 4: 49,538,822 (GRCm39) N232S probably damaging Het
Ankhd1 T C 18: 36,787,230 (GRCm39) V322A Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arhgef40 T A 14: 52,226,226 (GRCm39) V90E probably damaging Het
Cblc A T 7: 19,519,262 (GRCm39) S399R possibly damaging Het
Ccdc17 T A 4: 116,456,211 (GRCm39) I368K possibly damaging Het
Ccdc17 T A 4: 116,456,213 (GRCm39) W369R probably damaging Het
Cdk14 C T 5: 5,277,159 (GRCm39) probably null Het
Cfap61 C T 2: 145,789,095 (GRCm39) S33L probably benign Het
Cmtm2a A G 8: 105,019,670 (GRCm39) F7L probably benign Het
Eif2ak4 T C 2: 118,280,819 (GRCm39) I1062T possibly damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fxr1 A T 3: 34,101,878 (GRCm39) E204V probably damaging Het
Fzd6 T A 15: 38,894,959 (GRCm39) L375Q probably damaging Het
Ggta1 T A 2: 35,312,279 (GRCm39) E33V probably damaging Het
Gnb1l T A 16: 18,362,965 (GRCm39) I119N probably benign Het
Gpsm1 A G 2: 26,214,929 (GRCm39) probably null Het
Hecw1 A G 13: 14,480,692 (GRCm39) I885T probably damaging Het
Itgb8 T C 12: 119,131,905 (GRCm39) D580G probably damaging Het
Kbtbd12 T A 6: 88,594,913 (GRCm39) T306S possibly damaging Het
Kctd1 C T 18: 15,196,300 (GRCm39) E108K unknown Het
Lrrc36 A G 8: 106,178,717 (GRCm39) D304G possibly damaging Het
Lrrn2 A G 1: 132,865,082 (GRCm39) E49G probably damaging Het
Lysmd2 C A 9: 75,533,310 (GRCm39) Y88* probably null Het
Lzts3 A G 2: 130,477,105 (GRCm39) S448P probably benign Het
Meioc T A 11: 102,565,893 (GRCm39) L447* probably null Het
Mybpc1 A G 10: 88,394,553 (GRCm39) I244T possibly damaging Het
Necab3 G A 2: 154,389,363 (GRCm39) A160V probably benign Het
Nek8 G T 11: 78,061,587 (GRCm39) P314Q possibly damaging Het
Nlrp5 A G 7: 23,112,762 (GRCm39) T140A probably benign Het
Or10p21 T C 10: 128,847,444 (GRCm39) C97R probably damaging Het
Or52ac1 A T 7: 104,246,133 (GRCm39) F85Y probably damaging Het
Or7e169 A T 9: 19,757,780 (GRCm39) I45N probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pgm3 G A 9: 86,452,374 (GRCm39) R29W probably damaging Het
Ppp2r3d A G 9: 101,090,231 (GRCm39) C31R probably damaging Het
Prom1 C T 5: 44,194,770 (GRCm39) S334N possibly damaging Het
Rai14 C T 15: 10,575,302 (GRCm39) S581N probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rgs16 T C 1: 153,616,689 (GRCm39) F42S probably benign Het
Slc2a6 T G 2: 26,917,838 (GRCm39) E27A probably benign Het
Slc38a1 G A 15: 96,490,447 (GRCm39) S110L probably benign Het
Sox30 C T 11: 45,882,592 (GRCm39) R541C probably benign Het
Sptbn4 C A 7: 27,108,314 (GRCm39) E703* probably null Het
Tjp1 A T 7: 64,993,470 (GRCm39) F34L probably damaging Het
Trim65 T C 11: 116,017,037 (GRCm39) Q475R probably benign Het
Ttc38 A T 15: 85,728,716 (GRCm39) R223* probably null Het
Tulp1 T C 17: 28,583,300 (GRCm39) Q80R probably benign Het
Utp23 T C 15: 51,745,598 (GRCm39) F139L possibly damaging Het
Vmn1r121 A T 7: 20,832,228 (GRCm39) F71I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zdbf2 T C 1: 63,343,225 (GRCm39) S535P possibly damaging Het
Zfp788 T G 7: 41,298,801 (GRCm39) M479R probably benign 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
R1653:Cd276 UTSW 9 58,444,732 (GRCm39) missense probably benign
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
RF039:Cd276 UTSW 9 58,442,787 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTCAAAGTCCTGGATGCTC -3'
(R):5'- TGTGCAGAGCCTAGAGGTAG -3'

Sequencing Primer
(F):5'- CTCACAAAGCAGGTGTAGCTGC -3'
(R):5'- GGAAACCTCATCTTTCCTAACTGC -3'
Posted On 2020-07-13