Incidental Mutation 'IGL02222:Cd27'
ID285197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd27
Ensembl Gene ENSMUSG00000030336
Gene NameCD27 antigen
SynonymsCd27, S152, Tnfrsf7, Tp55
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02222
Quality Score
Status
Chromosome6
Chromosomal Location125232622-125237010 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125234532 bp
ZygosityHeterozygous
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]
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: ENSMUST00000151527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184956
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: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Cd27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2358:Cd27 UTSW 6 125233318 missense probably damaging 1.00
R3704:Cd27 UTSW 6 125233398 missense probably damaging 1.00
R3711:Cd27 UTSW 6 125233318 missense probably damaging 1.00
R4305:Cd27 UTSW 6 125234670 missense probably benign 0.02
R4872:Cd27 UTSW 6 125234318 critical splice acceptor site probably null
R5369:Cd27 UTSW 6 125234364 intron probably benign
R5762:Cd27 UTSW 6 125236598 missense probably damaging 1.00
R6577:Cd27 UTSW 6 125236793 missense probably benign 0.00
R6810:Cd27 UTSW 6 125233664 missense probably damaging 1.00
R8087:Cd27 UTSW 6 125233362 missense possibly damaging 0.95
R8162:Cd27 UTSW 6 125233225 splice site probably null
Posted On2015-04-16