Incidental Mutation 'R6006:Cd14'
ID 479511
Institutional Source Beutler Lab
Gene Symbol Cd14
Ensembl Gene ENSMUSG00000051439
Gene Name CD14 antigen
Synonyms
MMRRC Submission 044183-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 36858120-36859851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36859335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000056669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061829]
AlphaFold P10810
PDB Structure Crystal structure of CD14 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061829
AA Change: D40G

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056669
Gene: ENSMUSG00000051439
AA Change: D40G

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:1WWL|B 18 329 N/A PDB
SCOP:d1fqva2 86 326 1e-9 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that plays an important role in the innate immune response and is expressed in monocyte/macrophage cells. This gene product acts as a co-receptor that binds several microbial and fungal molecules, including lipopolysaccharides (LPS). This proteins LPS-binding activity is enhanced by the LPS binding protein (LBP) to allow binding to the TLR4-MD-2 co-receptor complex. The product of this gene is found in two forms, either as a soluble protein or attached to the cell surface by a glycosylphosphatidylinositol anchor. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice exhibit macrophages with impaired responses to LPS or E.coli, resulting in a reduction or loss of cytokine production. Macrophages also cannot contain vesicular stomatitis virus infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,804 (GRCm39) I296T probably benign Het
Abcb4 C A 5: 8,996,026 (GRCm39) T894K probably damaging Het
Acad12 C T 5: 121,737,299 (GRCm39) V491I possibly damaging Het
Actr8 T A 14: 29,706,099 (GRCm39) probably null Het
Adam7 A C 14: 68,748,845 (GRCm39) D467E probably damaging Het
Adamts18 A T 8: 114,433,606 (GRCm39) C1043S probably damaging Het
Adgrb3 T G 1: 25,865,612 (GRCm39) D77A possibly damaging Het
Arhgap20 T A 9: 51,761,426 (GRCm39) D1056E probably benign Het
Bco1 A G 8: 117,840,330 (GRCm39) probably null Het
Btn2a2 A T 13: 23,670,533 (GRCm39) W67R probably damaging Het
Camkmt A T 17: 85,759,666 (GRCm39) N269Y possibly damaging Het
Cand1 A G 10: 119,045,933 (GRCm39) F991L possibly damaging Het
Cchcr1 A G 17: 35,835,597 (GRCm39) K234E possibly damaging Het
Cdc73 A T 1: 143,493,177 (GRCm39) F386I probably damaging Het
Cdk14 C T 5: 5,299,211 (GRCm39) M1I probably null Het
Cnpy3 A C 17: 47,047,790 (GRCm39) S220A probably benign Het
Col22a1 A G 15: 71,845,685 (GRCm39) V359A probably damaging Het
Col6a3 C A 1: 90,696,105 (GRCm39) C2654F unknown Het
Colgalt2 A G 1: 152,348,912 (GRCm39) T186A probably damaging Het
Cpsf4l A G 11: 113,590,753 (GRCm39) V199A probably benign Het
Dhtkd1 G A 2: 5,908,836 (GRCm39) Q753* probably null Het
Ep400 A G 5: 110,852,825 (GRCm39) S1307P unknown Het
Fer1l6 T C 15: 58,518,893 (GRCm39) V1675A probably damaging Het
Glis1 T C 4: 107,425,103 (GRCm39) L238P probably damaging Het
Ift70a1 A G 2: 75,811,832 (GRCm39) Y84H probably benign Het
Iqgap3 T A 3: 87,998,854 (GRCm39) D318E probably damaging Het
Lats1 T C 10: 7,581,359 (GRCm39) F715L probably damaging Het
Mlxip T C 5: 123,583,721 (GRCm39) F428S possibly damaging Het
Morc3 T G 16: 93,663,381 (GRCm39) I528R possibly damaging Het
Mtx1 C T 3: 89,117,613 (GRCm39) G60D probably damaging Het
Mug2 G C 6: 122,060,459 (GRCm39) Q1398H probably null Het
Mup8 T C 4: 60,220,403 (GRCm39) I110V probably benign Het
Nfkb1 A T 3: 135,309,522 (GRCm39) L12* probably null Het
Numa1 G A 7: 101,641,926 (GRCm39) probably null Het
Or52e18 T G 7: 104,609,870 (GRCm39) E23A probably damaging Het
Pbk C T 14: 66,054,094 (GRCm39) P213L probably damaging Het
Pdcd1lg2 T A 19: 29,431,905 (GRCm39) H224Q possibly damaging Het
Pkp1 C G 1: 135,805,406 (GRCm39) probably null Het
Rela A G 19: 5,689,967 (GRCm39) N139S probably damaging Het
Rgs3 G A 4: 62,542,143 (GRCm39) R39Q probably damaging Het
S1pr3 A G 13: 51,573,731 (GRCm39) E304G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Setmar T C 6: 108,053,387 (GRCm39) S294P possibly damaging Het
Smc2 A G 4: 52,459,024 (GRCm39) N473S probably benign Het
Ssr1 TCTCTTTC T 13: 38,169,972 (GRCm39) probably null Het
Tigd2 A G 6: 59,187,762 (GRCm39) I210V possibly damaging Het
Tmprss9 T A 10: 80,719,555 (GRCm39) F93L possibly damaging Het
U2surp T C 9: 95,361,360 (GRCm39) Y633C probably damaging Het
Usp18 A T 6: 121,239,781 (GRCm39) E292V possibly damaging Het
Usp32 A C 11: 84,883,277 (GRCm39) probably null Het
Utp18 T C 11: 93,776,449 (GRCm39) D12G probably benign Het
Vmn1r216 C A 13: 23,283,928 (GRCm39) H204N probably benign Het
Wdr97 T C 15: 76,241,372 (GRCm39) V626A probably damaging Het
Wwc1 A T 11: 35,761,809 (GRCm39) V619E probably null Het
Wwc1 T C 11: 35,780,100 (GRCm39) D285G probably damaging Het
Zfp3 A T 11: 70,662,590 (GRCm39) Q183L probably benign Het
Zfp955a A G 17: 33,460,660 (GRCm39) C491R probably damaging Het
Other mutations in Cd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Cd14 APN 18 36,858,693 (GRCm39) missense possibly damaging 0.91
IGL02164:Cd14 APN 18 36,858,838 (GRCm39) missense possibly damaging 0.47
IGL02237:Cd14 APN 18 36,858,912 (GRCm39) missense probably damaging 1.00
IGL02834:Cd14 APN 18 36,858,556 (GRCm39) missense probably benign 0.13
IGL02981:Cd14 APN 18 36,859,532 (GRCm39) splice site probably benign
heedless UTSW 18 36,858,604 (GRCm39) missense probably benign 0.01
R0034:Cd14 UTSW 18 36,859,288 (GRCm39) missense probably benign
R1487:Cd14 UTSW 18 36,858,537 (GRCm39) missense probably benign 0.00
R1612:Cd14 UTSW 18 36,858,718 (GRCm39) nonsense probably null
R1754:Cd14 UTSW 18 36,858,567 (GRCm39) missense probably damaging 1.00
R1773:Cd14 UTSW 18 36,858,357 (GRCm39) missense possibly damaging 0.59
R1964:Cd14 UTSW 18 36,859,392 (GRCm39) missense probably damaging 1.00
R5579:Cd14 UTSW 18 36,859,288 (GRCm39) missense probably benign
R6114:Cd14 UTSW 18 36,859,006 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGGCTCCGAATAGAATC -3'
(R):5'- AGACAGTCTTGGGGTGGAACTG -3'

Sequencing Primer
(F):5'- GCTCCGAATAGAATCCGACTAGG -3'
(R):5'- TGGAGCCAACCTGAGGAATCTC -3'
Posted On 2017-06-26