Incidental Mutation 'IGL00509:Cd84'
ID 7328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd84
Ensembl Gene ENSMUSG00000038147
Gene Name CD84 antigen
Synonyms SLAMF5, CDw84, A130013D22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00509
Quality Score
Status
Chromosome 1
Chromosomal Location 171667265-171718285 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 171679704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042302] [ENSMUST00000135386] [ENSMUST00000136479] [ENSMUST00000155802]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000042302
SMART Domains Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147

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 noncoding transcript
Transcript: ENSMUST00000128189
Predicted Effect silent
Transcript: ENSMUST00000135386
SMART Domains Protein: ENSMUSP00000115674
Gene: ENSMUSG00000038147

DomainStartEndE-ValueType
IG 26 126 3.16e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000136479
SMART Domains Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147

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 probably null
Transcript: ENSMUST00000155802
SMART Domains Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,391,102 (GRCm39) probably null Het
Abr A G 11: 76,313,915 (GRCm39) L514P probably damaging Het
Ahnak T A 19: 8,987,315 (GRCm39) D2866E possibly damaging Het
Bfsp1 T A 2: 143,673,812 (GRCm39) T293S probably damaging Het
Ccr1 C T 9: 123,764,090 (GRCm39) V147I probably benign Het
Cep192 T C 18: 67,991,939 (GRCm39) V1939A possibly damaging Het
Chrnb4 A T 9: 54,943,878 (GRCm39) L80Q probably damaging Het
Ckmt2 A T 13: 92,011,382 (GRCm39) L76H probably damaging Het
Cntnap2 C T 6: 45,992,197 (GRCm39) P375S possibly damaging Het
Cped1 A T 6: 22,215,522 (GRCm39) L685F probably damaging Het
Dab2ip T C 2: 35,610,025 (GRCm39) S682P probably damaging Het
Dclk1 A T 3: 55,154,707 (GRCm39) T46S probably damaging Het
Eif2d T A 1: 131,094,089 (GRCm39) C427S probably benign Het
Fat4 T A 3: 38,943,188 (GRCm39) Y694N probably damaging Het
Gm15217 T C 14: 46,620,768 (GRCm39) probably benign Het
Gpr35 T C 1: 92,910,594 (GRCm39) I102T probably damaging Het
Grk4 T A 5: 34,873,634 (GRCm39) N233K probably damaging Het
Hdac3 T C 18: 38,087,938 (GRCm39) D10G possibly damaging Het
Hexb G A 13: 97,318,437 (GRCm39) T308M probably damaging Het
Inpp5j C A 11: 3,451,595 (GRCm39) D436Y possibly damaging Het
Kif18a A G 2: 109,148,333 (GRCm39) E609G possibly damaging Het
Kif24 T C 4: 41,413,826 (GRCm39) probably null Het
Lrp4 G A 2: 91,316,519 (GRCm39) probably benign Het
Mat2b T C 11: 40,575,554 (GRCm39) K161E possibly damaging Het
Nek2 T G 1: 191,559,490 (GRCm39) probably benign Het
Numa1 A G 7: 101,662,493 (GRCm39) T1965A possibly damaging Het
Oca2 G A 7: 55,930,594 (GRCm39) G137D probably damaging Het
Pdcl2 T A 5: 76,472,959 (GRCm39) D3V probably damaging Het
Ranbp17 T C 11: 33,443,402 (GRCm39) N91S probably benign Het
Siglech A T 7: 55,418,635 (GRCm39) D146V possibly damaging Het
Slc4a3 C T 1: 75,531,727 (GRCm39) T898M probably damaging Het
Sp3 A G 2: 72,768,406 (GRCm39) probably benign Het
Tln1 C T 4: 43,542,719 (GRCm39) V1396I probably benign Het
Ugt2a3 T A 5: 87,473,514 (GRCm39) M468L probably damaging Het
Other mutations in Cd84
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6966:Cd84 UTSW 1 171,713,976 (GRCm39) missense possibly damaging 0.93
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
Posted On 2012-04-20