Incidental Mutation 'R6810:Cd27'
ID 533754
Institutional Source Beutler Lab
Gene Symbol Cd27
Ensembl Gene ENSMUSG00000030336
Gene Name CD27 antigen
Synonyms Tnfrsf7, S152, Cd27, Tp55
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 125209585-125213973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125210627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 203 (H203Q)
Ref Sequence ENSEMBL: ENSMUSP00000032486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032486] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000112281] [ENSMUST00000112282]
AlphaFold P41272
Predicted Effect probably damaging
Transcript: ENSMUST00000032486
AA Change: H203Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032486
Gene: ENSMUSG00000030336
AA Change: H203Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 27 62 1.11e-2 SMART
TNFR 65 104 1.23e-4 SMART
low complexity region 131 147 N/A INTRINSIC
transmembrane domain 183 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043422
SMART Domains Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 202 306 1.11e-5 SMART
IGc1 321 397 3.97e-7 SMART
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063588
SMART Domains Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Pfam:Synaptobrevin 30 118 5.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112281
AA Change: H143Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107900
Gene: ENSMUSG00000030336
AA Change: H143Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 27 62 1.11e-2 SMART
Blast:TNFR 65 100 4e-10 BLAST
transmembrane domain 120 142 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112282
AA Change: H99Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107901
Gene: ENSMUSG00000030336
AA Change: H99Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:TNFR 27 45 1e-6 BLAST
transmembrane domain 76 98 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
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 a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a normal phenotype. However, T-cell development immune responses are abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cdk2 A G 10: 128,535,456 (GRCm39) V274A probably benign Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Klhdc7b A G 15: 89,272,559 (GRCm39) Y1147C possibly damaging Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nell2 T C 15: 95,139,468 (GRCm39) D588G probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Psrc1 A T 3: 108,292,664 (GRCm39) K152N possibly damaging Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tes C A 6: 17,104,651 (GRCm39) N377K probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C probably damaging Het
Other mutations in Cd27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Cd27 APN 6 125,211,495 (GRCm39) missense probably damaging 0.98
R2358:Cd27 UTSW 6 125,210,281 (GRCm39) missense probably damaging 1.00
R3704:Cd27 UTSW 6 125,210,361 (GRCm39) missense probably damaging 1.00
R3711:Cd27 UTSW 6 125,210,281 (GRCm39) missense probably damaging 1.00
R4305:Cd27 UTSW 6 125,211,633 (GRCm39) missense probably benign 0.02
R4872:Cd27 UTSW 6 125,211,281 (GRCm39) critical splice acceptor site probably null
R5369:Cd27 UTSW 6 125,211,327 (GRCm39) intron probably benign
R5762:Cd27 UTSW 6 125,213,561 (GRCm39) missense probably damaging 1.00
R6577:Cd27 UTSW 6 125,213,756 (GRCm39) missense probably benign 0.00
R8087:Cd27 UTSW 6 125,210,325 (GRCm39) missense possibly damaging 0.95
R8162:Cd27 UTSW 6 125,210,188 (GRCm39) splice site probably null
R8924:Cd27 UTSW 6 125,213,432 (GRCm39) intron probably benign
R9334:Cd27 UTSW 6 125,213,718 (GRCm39) critical splice donor site probably null
R9785:Cd27 UTSW 6 125,213,945 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACAATCGGTCAGCAGTGGAG -3'
(R):5'- AACCAGCAAGCTTCCAGGTC -3'

Sequencing Primer
(F):5'- TCGGTCAGCAGTGGAGAGAAG -3'
(R):5'- TCCTGTCTCAAGGGACTAAACTAG -3'
Posted On 2018-09-12