Incidental Mutation 'IGL02222:Cd27'
ID 285197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd27
Ensembl Gene ENSMUSG00000030336
Gene Name CD27 antigen
Synonyms Tnfrsf7, S152, Cd27, Tp55
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02222
Quality Score
Status
Chromosome 6
Chromosomal Location 125209585-125213973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125211495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 144 (H144R)
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: H144R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032486
Gene: ENSMUSG00000030336
AA Change: H144R

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 benign
Transcript: ENSMUST00000112281
SMART Domains Protein: ENSMUSP00000107900
Gene: ENSMUSG00000030336

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 probably benign
Transcript: ENSMUST00000112282
SMART Domains Protein: ENSMUSP00000107901
Gene: ENSMUSG00000030336

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:TNFR 27 45 1e-6 BLAST
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160523
Coding Region Coverage
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 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,322,045 (GRCm39) R1682W probably benign Het
Angptl6 A T 9: 20,785,203 (GRCm39) M450K probably damaging Het
Armc12 C A 17: 28,757,694 (GRCm39) N275K probably damaging Het
Cenpf T C 1: 189,386,641 (GRCm39) K1880E probably benign Het
Dchs1 A T 7: 105,414,094 (GRCm39) I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 (GRCm39) F443C possibly damaging Het
Eif3i C T 4: 129,485,881 (GRCm39) D315N possibly damaging Het
Fam217a A G 13: 35,095,102 (GRCm39) L128P probably damaging Het
Fetub C T 16: 22,751,078 (GRCm39) L62F probably damaging Het
Fmn1 A T 2: 113,423,454 (GRCm39) I1047F probably damaging Het
G2e3 A G 12: 51,410,016 (GRCm39) H267R probably damaging Het
Gigyf2 A G 1: 87,338,585 (GRCm39) probably null Het
Gm10650 T C 3: 127,833,789 (GRCm39) noncoding transcript Het
Grip1 C T 10: 119,835,714 (GRCm39) T470I probably damaging Het
Hmcn1 T G 1: 150,682,152 (GRCm39) D466A probably benign Het
Lrrc63 T C 14: 75,323,580 (GRCm39) Y548C probably damaging Het
Naaa T C 5: 92,407,409 (GRCm39) probably benign Het
Parpbp T A 10: 87,975,947 (GRCm39) E55D possibly damaging Het
Pnpt1 A T 11: 29,109,327 (GRCm39) D691V possibly damaging Het
Pnpt1 G A 11: 29,080,842 (GRCm39) A29T probably benign Het
Pramel11 A G 4: 143,622,416 (GRCm39) M313T possibly damaging Het
Psg25 T C 7: 18,263,652 (GRCm39) N57S probably damaging Het
Selenbp2 T A 3: 94,607,269 (GRCm39) V168E probably damaging Het
Syne2 G A 12: 75,999,617 (GRCm39) E2337K probably damaging Het
Synj2 A G 17: 6,087,755 (GRCm39) T1269A probably benign Het
Tent5b T C 4: 133,213,864 (GRCm39) V245A probably damaging Het
Tnfrsf13c C A 15: 82,107,364 (GRCm39) V144L probably damaging Het
Uspl1 G T 5: 149,130,854 (GRCm39) V132L probably benign Het
Vmn2r58 T A 7: 41,513,449 (GRCm39) Y398F possibly damaging Het
Vps13a T A 19: 16,659,539 (GRCm39) T1663S probably benign Het
Ythdc1 G A 5: 86,975,902 (GRCm39) R503H possibly damaging Het
Other mutations in Cd27
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6810:Cd27 UTSW 6 125,210,627 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16