Incidental Mutation 'R1452:Cd53'
ID 161055
Institutional Source Beutler Lab
Gene Symbol Cd53
Ensembl Gene ENSMUSG00000040747
Gene Name CD53 antigen
Synonyms Tspan25, Ox-44
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 106667237-106697465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106676275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 31 (G31S)
Ref Sequence ENSEMBL: ENSMUSP00000035781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038845]
AlphaFold Q61451
Predicted Effect probably damaging
Transcript: ENSMUST00000038845
AA Change: G31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: G31S

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 210 4.6e-54 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L probably benign 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
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
R7043:Cd53 UTSW 3 106,670,577 (GRCm39) missense probably damaging 1.00
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'- TGCTCTTGATTGTAGGTGTTTCCCAAA -3'
(R):5'- GTCTTGAGTCATGAGTCTTGAGTCAGC -3'

Sequencing Primer
(F):5'- TTTGAGCCATCATCTACCCAAAC -3'
(R):5'- TGAGTCTTGAGTCAGCAAAACC -3'
Posted On 2014-03-14