Incidental Mutation 'R7043:Cd53'
ID 547149
Institutional Source Beutler Lab
Gene Symbol Cd53
Ensembl Gene ENSMUSG00000040747
Gene Name CD53 antigen
Synonyms Tspan25, Ox-44
MMRRC Submission 045142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R7043 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 106667237-106697465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106670577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 152 (D152G)
Ref Sequence ENSEMBL: ENSMUSP00000035781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038845]
AlphaFold Q61451
Predicted Effect probably damaging
Transcript: ENSMUST00000038845
AA Change: D152G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: D152G

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 210 4.6e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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 transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,474 (GRCm39) L1596P probably damaging Het
Actr3b A G 5: 26,054,936 (GRCm39) M329V probably benign Het
Avpr1a C T 10: 122,285,586 (GRCm39) R293C probably damaging Het
Bdp1 A T 13: 100,215,215 (GRCm39) C390S probably benign Het
C2cd2l A T 9: 44,227,848 (GRCm39) M131K probably damaging Het
Ccna2 T C 3: 36,624,302 (GRCm39) probably benign Het
Cdpf1 A T 15: 85,692,485 (GRCm39) V66E probably null Het
Chd9 G T 8: 91,760,843 (GRCm39) probably benign Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Dst A G 1: 34,296,992 (GRCm39) T5794A probably damaging Het
Eif2s1 G T 12: 78,923,882 (GRCm39) R113L probably damaging Het
Eif5 A G 12: 111,511,030 (GRCm39) D423G probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
F7 A T 8: 13,083,997 (GRCm39) R227S probably benign Het
Gm14496 T G 2: 181,642,120 (GRCm39) I597S possibly damaging Het
Gpr85 T A 6: 13,835,876 (GRCm39) N343Y probably damaging Het
H2-T23 A T 17: 36,342,803 (GRCm39) S112T probably damaging Het
Itga9 C T 9: 118,598,184 (GRCm39) P573S probably damaging Het
Kcnb2 A T 1: 15,383,150 (GRCm39) M159L probably benign Het
Kmt5b T A 19: 3,865,220 (GRCm39) S738R possibly damaging Het
Lrp1b T C 2: 40,812,426 (GRCm39) N2393S possibly damaging Het
Mme T A 3: 63,252,638 (GRCm39) Y427* probably null Het
Naip1 A G 13: 100,563,422 (GRCm39) V581A probably damaging Het
Ndel1 A G 11: 68,713,450 (GRCm39) L329P possibly damaging Het
Nthl1 T G 17: 24,857,644 (GRCm39) V281G probably benign Het
Or52ab2 C A 7: 102,970,292 (GRCm39) probably benign Het
Per2 G T 1: 91,347,130 (GRCm39) H1197Q probably benign Het
Phf8-ps T C 17: 33,284,306 (GRCm39) D832G possibly damaging Het
Plec G A 15: 76,093,328 (GRCm39) probably benign Het
Prpf6 A T 2: 181,291,297 (GRCm39) H704L probably benign Het
Recql5 C T 11: 115,821,502 (GRCm39) probably null Het
Rimbp3 G A 16: 17,028,972 (GRCm39) V799M probably damaging Het
Sema3f C T 9: 107,568,599 (GRCm39) A169T possibly damaging Het
Serpinb9f T C 13: 33,509,970 (GRCm39) I54T possibly damaging Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc35g3 T C 11: 69,652,476 (GRCm39) D12G probably benign Het
Sptbn1 A G 11: 30,053,323 (GRCm39) V2252A probably benign Het
Stab2 T C 10: 86,706,110 (GRCm39) N1750S probably damaging Het
Supt5 C A 7: 28,019,435 (GRCm39) R543L probably benign Het
Syne1 T C 10: 5,022,193 (GRCm39) E7806G possibly damaging Het
Syt12 T A 19: 4,501,049 (GRCm39) M334L probably benign Het
Tk1 A G 11: 117,706,779 (GRCm39) *234R probably null Het
Trp73 T G 4: 154,151,464 (GRCm39) probably null Het
Ttn A G 2: 76,727,477 (GRCm39) probably benign Het
Vmn2r11 T C 5: 109,200,098 (GRCm39) I452V probably benign Het
Wwox G T 8: 115,406,578 (GRCm39) V190L probably damaging Het
Wwp2 A G 8: 108,184,532 (GRCm39) H80R probably benign Het
Zc3h3 A G 15: 75,681,485 (GRCm39) I532T probably damaging Het
Zfp280d A G 9: 72,226,539 (GRCm39) K328E probably damaging Het
Zfp365 A G 10: 67,745,656 (GRCm39) S41P probably damaging Het
Other mutations in Cd53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Cd53 APN 3 106,676,142 (GRCm39) missense probably damaging 1.00
IGL02592:Cd53 APN 3 106,670,601 (GRCm39) missense probably damaging 1.00
R0090:Cd53 UTSW 3 106,674,725 (GRCm39) missense possibly damaging 0.94
R0392:Cd53 UTSW 3 106,670,592 (GRCm39) missense probably damaging 1.00
R0538:Cd53 UTSW 3 106,669,444 (GRCm39) missense probably benign 0.07
R1452:Cd53 UTSW 3 106,676,275 (GRCm39) missense probably damaging 1.00
R1693:Cd53 UTSW 3 106,676,205 (GRCm39) missense possibly damaging 0.66
R2042:Cd53 UTSW 3 106,674,740 (GRCm39) critical splice acceptor site probably null
R2300:Cd53 UTSW 3 106,670,572 (GRCm39) missense probably benign
R2878:Cd53 UTSW 3 106,674,732 (GRCm39) missense probably benign 0.00
R4081:Cd53 UTSW 3 106,669,461 (GRCm39) missense probably benign
R6180:Cd53 UTSW 3 106,674,680 (GRCm39) missense probably damaging 0.96
R6519:Cd53 UTSW 3 106,669,461 (GRCm39) missense probably benign 0.00
R6694:Cd53 UTSW 3 106,674,702 (GRCm39) missense probably benign 0.03
R7417:Cd53 UTSW 3 106,676,235 (GRCm39) missense probably benign 0.17
R7736:Cd53 UTSW 3 106,675,252 (GRCm39) missense probably benign 0.12
R7893:Cd53 UTSW 3 106,674,702 (GRCm39) missense probably benign 0.03
R9493:Cd53 UTSW 3 106,674,683 (GRCm39) missense probably null 0.66
Predicted Primers PCR Primer
(F):5'- TGCTCCTAGATTTTGGAAGCATC -3'
(R):5'- TCTGTAGCAGTAGACCAATTCTG -3'

Sequencing Primer
(F):5'- GAGCGGTTCCCTGCTCATTC -3'
(R):5'- AGCAGTAGACCAATTCTGAATTTTC -3'
Posted On 2019-05-13