Incidental Mutation 'R6966:Cd84'
ID 541979
Institutional Source Beutler Lab
Gene Symbol Cd84
Ensembl Gene ENSMUSG00000038147
Gene Name CD84 antigen
Synonyms SLAMF5, CDw84, A130013D22Rik
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171667265-171718285 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171713976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 325 (N325D)
Ref Sequence ENSEMBL: ENSMUSP00000120881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042302] [ENSMUST00000136479] [ENSMUST00000155802]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000042302
AA Change: N325D

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: N325D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 26 126 3.16e-1 SMART
IG_like 137 208 1.02e1 SMART
transmembrane domain 220 242 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136479
AA Change: N324D

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: N324D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 26 126 3.16e-1 SMART
IG_like 137 208 1.02e1 SMART
transmembrane domain 220 242 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155802
AA Change: N325D

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: N325D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 26 126 3.16e-1 SMART
IG_like 137 208 1.02e1 SMART
transmembrane domain 220 242 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Chid1 T A 7: 141,076,297 (GRCm39) Y357F possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Drd1 T C 13: 54,207,564 (GRCm39) I210V probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tgm4 T A 9: 122,880,207 (GRCm39) D226E possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Uap1l1 A G 2: 25,254,950 (GRCm39) I146T probably damaging Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Vwa7 T C 17: 35,236,072 (GRCm39) S9P probably benign Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T probably damaging Het
Other mutations in Cd84
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Cd84 APN 1 171,679,704 (GRCm39) critical splice donor site probably null
IGL01371:Cd84 APN 1 171,713,937 (GRCm39) missense probably benign 0.36
IGL03035:Cd84 APN 1 171,679,601 (GRCm39) missense probably damaging 0.99
IGL03098:Cd84 APN 1 171,700,267 (GRCm39) missense possibly damaging 0.78
R0511:Cd84 UTSW 1 171,700,494 (GRCm39) missense probably benign 0.00
R1244:Cd84 UTSW 1 171,679,397 (GRCm39) missense probably damaging 0.99
R1438:Cd84 UTSW 1 171,679,685 (GRCm39) missense probably damaging 1.00
R1459:Cd84 UTSW 1 171,679,510 (GRCm39) missense probably benign 0.02
R1654:Cd84 UTSW 1 171,712,173 (GRCm39) missense possibly damaging 0.69
R1658:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1659:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1765:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1771:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1776:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1799:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1815:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1816:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R1982:Cd84 UTSW 1 171,712,152 (GRCm39) splice site probably null
R1990:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R2056:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R2057:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R2058:Cd84 UTSW 1 171,700,317 (GRCm39) missense possibly damaging 0.78
R2098:Cd84 UTSW 1 171,713,148 (GRCm39) missense probably benign 0.07
R4674:Cd84 UTSW 1 171,700,887 (GRCm39) missense possibly damaging 0.82
R4675:Cd84 UTSW 1 171,700,887 (GRCm39) missense possibly damaging 0.82
R4806:Cd84 UTSW 1 171,679,688 (GRCm39) missense probably benign 0.00
R4828:Cd84 UTSW 1 171,700,315 (GRCm39) missense probably damaging 0.97
R4908:Cd84 UTSW 1 171,700,432 (GRCm39) missense probably damaging 0.96
R5366:Cd84 UTSW 1 171,700,872 (GRCm39) missense probably damaging 1.00
R5725:Cd84 UTSW 1 171,700,928 (GRCm39) missense probably benign 0.00
R5883:Cd84 UTSW 1 171,700,405 (GRCm39) missense possibly damaging 0.58
R6722:Cd84 UTSW 1 171,700,344 (GRCm39) missense probably damaging 0.98
R7513:Cd84 UTSW 1 171,712,185 (GRCm39) missense probably benign 0.01
R7733:Cd84 UTSW 1 171,668,226 (GRCm39) start codon destroyed probably null 1.00
R9123:Cd84 UTSW 1 171,712,153 (GRCm39) critical splice acceptor site probably null
R9134:Cd84 UTSW 1 171,679,413 (GRCm39) missense probably damaging 1.00
R9441:Cd84 UTSW 1 171,713,994 (GRCm39) critical splice donor site probably null
R9702:Cd84 UTSW 1 171,700,498 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CATGTACCCAAGCACAGGAG -3'
(R):5'- TTCCCACAACTCTTGGACAG -3'

Sequencing Primer
(F):5'- GGAGAAATCTAAGACATCACCATATG -3'
(R):5'- CCACAACTCTTGGACAGTGATGTTAC -3'
Posted On 2018-11-28