Incidental Mutation 'R2903:Cd276'
ID 261555
Institutional Source Beutler Lab
Gene Symbol Cd276
Ensembl Gene ENSMUSG00000035914
Gene Name CD276 antigen
Synonyms B7RP-2, B7h3, 6030411F23Rik, B7-H3
MMRRC Submission 040490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R2903 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 58431583-58462316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58444603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 123 (F123L)
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: F123L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000042681
Gene: ENSMUSG00000035914
AA Change: F123L

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: F123L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129418
Gene: ENSMUSG00000035914
AA Change: F123L

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: F51L
Predicted Effect probably benign
Transcript: ENSMUST00000216629
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A T 14: 34,233,898 (GRCm39) V131E unknown Het
Ccnk T C 12: 108,168,647 (GRCm39) probably benign Het
Ddr2 T A 1: 169,825,730 (GRCm39) N290I probably damaging Het
Ecpas A G 4: 58,828,622 (GRCm39) V937A possibly damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gpt A G 15: 76,582,666 (GRCm39) D37G probably damaging Het
Grik3 T A 4: 125,564,437 (GRCm39) L473Q probably damaging Het
Hsp90b1 A C 10: 86,539,349 (GRCm39) I90S probably damaging Het
Ift56 T C 6: 38,378,037 (GRCm39) V283A possibly damaging Het
Ing5 G A 1: 93,731,710 (GRCm39) probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kdr T C 5: 76,127,069 (GRCm39) Y307C probably damaging Het
Or51t4 A T 7: 102,598,661 (GRCm39) M320L probably benign Het
Rapgef5 A G 12: 117,677,854 (GRCm39) K161R probably damaging Het
Rassf10 A T 7: 112,553,756 (GRCm39) D119V possibly damaging Het
Samhd1 A T 2: 156,965,335 (GRCm39) F160Y possibly damaging Het
Sh3bp2 T A 5: 34,700,900 (GRCm39) C34* probably null Het
Six3 A G 17: 85,931,283 (GRCm39) E313G probably damaging Het
Tas2r118 A G 6: 23,969,801 (GRCm39) F87L possibly damaging Het
Tmem131 A G 1: 36,864,378 (GRCm39) L591P probably damaging Het
Trav17 A C 14: 54,044,123 (GRCm39) S10R probably benign Het
Ttll3 T C 6: 113,384,284 (GRCm39) F534S probably damaging Het
Umodl1 T A 17: 31,211,147 (GRCm39) V890E probably damaging Het
Uso1 G A 5: 92,343,294 (GRCm39) probably null Het
Utrn A G 10: 12,519,172 (GRCm39) I2260T probably damaging Het
Vav1 A G 17: 57,613,187 (GRCm39) N620D 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
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'- CTGGGCTTTGAGTAGAAGGC -3'
(R):5'- CACAGCTCAACCTCATCTGG -3'

Sequencing Primer
(F):5'- CAGAGGACAGGGATCATCACC -3'
(R):5'- ACCTCATCTGGCAGCTGAC -3'
Posted On 2015-01-23