Incidental Mutation 'IGL00435:Cd68'
ID 4563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd68
Ensembl Gene ENSMUSG00000018774
Gene Name CD68 antigen
Synonyms Lamp4, macrosialin, Scard1, gp110
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL00435
Quality Score
Status
Chromosome 11
Chromosomal Location 69555039-69556979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69556676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000104294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018918] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000163666] [ENSMUST00000148242] [ENSMUST00000155200]
AlphaFold P31996
Predicted Effect probably benign
Transcript: ENSMUST00000018905
SMART Domains Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
low complexity region 141 157 N/A INTRINSIC
CTNS 167 198 5.56e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000018918
AA Change: T44A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018918
Gene: ENSMUSG00000018774
AA Change: T44A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Lamp 28 326 5.6e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083928
Predicted Effect probably benign
Transcript: ENSMUST00000102589
Predicted Effect probably damaging
Transcript: ENSMUST00000108654
AA Change: T44A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104294
Gene: ENSMUSG00000018774
AA Change: T44A

DomainStartEndE-ValueType
Pfam:Lamp 16 335 3.1e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139155
Predicted Effect probably benign
Transcript: ENSMUST00000125389
SMART Domains Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
CTNS 39 70 1.69e-6 SMART
low complexity region 89 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129224
SMART Domains Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
CTNS 54 85 1.69e-6 SMART
low complexity region 138 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect probably benign
Transcript: ENSMUST00000163666
SMART Domains Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

DomainStartEndE-ValueType
DEXDc 51 249 3.61e-60 SMART
HELICc 286 367 1.04e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148242
SMART Domains Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
low complexity region 98 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155200
SMART Domains Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
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 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced antigen presenting activity in dendritic cells in response to ovalbumin stimulation. Mice homozygous for another knock-out allele exhibit increased bone and dysfunctional osteoclasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,152,796 (GRCm39) D657E probably damaging Het
Cd200l1 A T 16: 45,264,483 (GRCm39) L25Q probably damaging Het
Cecr2 C T 6: 120,733,678 (GRCm39) T555M probably damaging Het
Cep170b A G 12: 112,701,628 (GRCm39) Q169R probably damaging Het
Cs T C 10: 128,195,912 (GRCm39) F374L probably damaging Het
Dpy19l1 T C 9: 24,393,226 (GRCm39) E181G probably damaging Het
Efcab12 T C 6: 115,800,625 (GRCm39) T133A probably benign Het
Esr2 G A 12: 76,180,653 (GRCm39) R423W probably damaging Het
Eya4 T C 10: 23,034,995 (GRCm39) Y120C probably benign Het
Fbxw8 A G 5: 118,206,202 (GRCm39) M582T probably benign Het
Fcgbpl1 A T 7: 27,863,953 (GRCm39) D2575V probably damaging Het
Ghsr A G 3: 27,426,532 (GRCm39) E196G possibly damaging Het
Gm10024 G A 10: 77,547,295 (GRCm39) probably benign Het
Gpr65 A G 12: 98,241,815 (GRCm39) E156G probably damaging Het
Gtf3c3 T C 1: 54,466,694 (GRCm39) Y249C possibly damaging Het
H2-T23 G A 17: 36,342,673 (GRCm39) A155V probably damaging Het
Hadha A G 5: 30,327,171 (GRCm39) S556P probably benign Het
Hdac7 T A 15: 97,707,376 (GRCm39) K187N probably damaging Het
Inpp5j T C 11: 3,452,255 (GRCm39) I332V probably benign Het
Kank1 A G 19: 25,407,600 (GRCm39) D1198G probably benign Het
Kdr A G 5: 76,129,410 (GRCm39) L159P probably damaging Het
Me2 T C 18: 73,903,713 (GRCm39) E585G probably benign Het
Nfu1 A T 6: 86,992,577 (GRCm39) T64S probably damaging Het
Nsd3 A G 8: 26,166,728 (GRCm39) D632G probably benign Het
Pcna T C 2: 132,093,852 (GRCm39) D97G probably benign Het
Pgm2 A G 5: 64,265,612 (GRCm39) probably benign Het
Phactr1 C A 13: 43,110,122 (GRCm39) R2S probably damaging Het
Psmd11 T A 11: 80,361,210 (GRCm39) I347N possibly damaging Het
Rad21l T C 2: 151,495,436 (GRCm39) T416A probably benign Het
Ruvbl2 A T 7: 45,074,596 (GRCm39) S181T probably benign Het
Rxrb A G 17: 34,253,049 (GRCm39) T109A probably damaging Het
Ryr3 T A 2: 112,490,494 (GRCm39) Y3785F probably damaging Het
Sec16a T C 2: 26,320,113 (GRCm39) T1442A probably benign Het
Slc6a14 T A X: 21,600,363 (GRCm39) probably benign Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Tent5c A G 3: 100,380,672 (GRCm39) V28A probably damaging Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Trav13-2 T C 14: 53,872,688 (GRCm39) F55L possibly damaging Het
Tst A T 15: 78,289,661 (GRCm39) S125T probably damaging Het
Ttn T C 2: 76,630,868 (GRCm39) T14179A probably benign Het
Vps37b A G 5: 124,148,850 (GRCm39) Y62H probably damaging Het
Other mutations in Cd68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Cd68 APN 11 69,555,927 (GRCm39) missense possibly damaging 0.91
R1474:Cd68 UTSW 11 69,555,754 (GRCm39) unclassified probably benign
R1556:Cd68 UTSW 11 69,556,676 (GRCm39) missense probably damaging 1.00
R5014:Cd68 UTSW 11 69,556,165 (GRCm39) missense probably damaging 1.00
R5397:Cd68 UTSW 11 69,556,484 (GRCm39) missense probably benign 0.00
R5656:Cd68 UTSW 11 69,555,247 (GRCm39) missense probably damaging 0.96
R7425:Cd68 UTSW 11 69,555,938 (GRCm39) missense probably benign 0.30
R7442:Cd68 UTSW 11 69,556,754 (GRCm39) missense probably benign 0.01
R9317:Cd68 UTSW 11 69,555,860 (GRCm39) critical splice donor site probably null
Posted On 2012-04-20