Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Cd14'

485050

Institutional Source

Beutler Lab

Gene Symbol

Cd14

Ensembl Gene

ENSMUSG00000051439

Gene Name

CD14 antigen

Synonyms

monocyte differentiation antigen CD14; myeloid cell-specific leucine-rich glycoprotein

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36725074-36726736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36725953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 150 (W150R)

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

probably damaging
Transcript: ENSMUST00000061829
AA Change: W150R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056669
Gene: ENSMUSG00000051439
AA Change: W150R

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:1WWL\|B	18	329	N/A	PDB
SCOP:d1fqva2	86	326	1e-9	SMART

Meta Mutation Damage Score

0.8029

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159 (GRCm38)	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836 (GRCm38)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386 (GRCm38)	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Pitx2	C	G	3: 129,204,413 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985 (GRCm38)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het

Other mutations in Cd14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Cd14	APN	18	36,725,640 (GRCm38)	missense	possibly damaging	0.91
IGL02164:Cd14	APN	18	36,725,785 (GRCm38)	missense	possibly damaging	0.47
IGL02237:Cd14	APN	18	36,725,859 (GRCm38)	missense	probably damaging	1.00
IGL02834:Cd14	APN	18	36,725,503 (GRCm38)	missense	probably benign	0.13
IGL02981:Cd14	APN	18	36,726,479 (GRCm38)	splice site	probably benign
heedless	UTSW	18	36,725,551 (GRCm38)	missense	probably benign	0.01
R0034:Cd14	UTSW	18	36,726,235 (GRCm38)	missense	probably benign
R1487:Cd14	UTSW	18	36,725,484 (GRCm38)	missense	probably benign	0.00
R1612:Cd14	UTSW	18	36,725,665 (GRCm38)	nonsense	probably null
R1754:Cd14	UTSW	18	36,725,514 (GRCm38)	missense	probably damaging	1.00
R1773:Cd14	UTSW	18	36,725,304 (GRCm38)	missense	possibly damaging	0.59
R1964:Cd14	UTSW	18	36,726,339 (GRCm38)	missense	probably damaging	1.00
R5579:Cd14	UTSW	18	36,726,235 (GRCm38)	missense	probably benign
R6006:Cd14	UTSW	18	36,726,282 (GRCm38)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TCGCCCAATTCAGGATTGTC -3'
(R):5'- TGTGGACACGGAAGCAGATC -3'

Sequencing Primer
(F):5'- CCAATTCAGGATTGTCAGACAGGTC -3'
(R):5'- AAGTCTCTGTCCTTAAAGCGG -3'

Posted On

2017-08-16