Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Cd209e'

151999

Institutional Source

Beutler Lab

Gene Symbol

Cd209e

Ensembl Gene

ENSMUSG00000040197

Gene Name

CD209e antigen

Synonyms

SIGNR4, mSIGNR4

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3897973-3904286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3899124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 196 (I196N)

Ref Sequence

ENSEMBL: ENSMUSP00000033888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033888]

AlphaFold

Q91ZW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033888
AA Change: I196N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: I196N

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
CLECT	77	198	4.01e-33	SMART

Meta Mutation Damage Score

0.8604

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,301,846 (GRCm39)		noncoding transcript	Het
Aldh1l2	T	C	10: 83,331,889 (GRCm39)	I639V	probably benign	Het
Ambra1	T	C	2: 91,601,241 (GRCm39)		probably benign	Het
Ap5z1	T	C	5: 142,455,869 (GRCm39)	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,733,526 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,832,689 (GRCm39)	V2574I	probably benign	Het
Atxn1l	T	A	8: 110,459,612 (GRCm39)	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,346,150 (GRCm39)	S89P	probably benign	Het
Ccn5	T	A	2: 163,670,997 (GRCm39)	M168K	unknown	Het
Cdhr4	A	G	9: 107,872,495 (GRCm39)	S247G	probably benign	Het
Cntn6	A	T	6: 104,809,470 (GRCm39)	I502F	probably damaging	Het
Crisp4	T	C	1: 18,193,018 (GRCm39)	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,376,553 (GRCm39)	T261N	probably benign	Het
Ctsk	T	C	3: 95,408,185 (GRCm39)	F14L	probably benign	Het
Dchs1	T	C	7: 105,407,385 (GRCm39)	I2110V	probably damaging	Het
Dennd5b	A	G	6: 148,969,988 (GRCm39)	M155T	probably benign	Het
Echdc3	T	C	2: 6,217,611 (GRCm39)	D54G	probably benign	Het
Egln3	G	A	12: 54,228,479 (GRCm39)	T209I	probably damaging	Het
Fbn1	A	C	2: 125,214,447 (GRCm39)		probably benign	Het
Fkbp15	A	T	4: 62,222,846 (GRCm39)	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503 (GRCm38)	I898T	probably benign	Het
Flt1	T	A	5: 147,536,456 (GRCm39)	Y795F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,267,614 (GRCm39)	E417G	probably damaging	Het
Fryl	A	G	5: 73,222,268 (GRCm39)		probably benign	Het
Gcnt3	T	C	9: 69,941,615 (GRCm39)	I318V	probably benign	Het
Gm11437	T	A	11: 84,055,454 (GRCm39)	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Jarid2	G	A	13: 45,038,368 (GRCm39)		probably benign	Het
Kif5b	A	T	18: 6,214,044 (GRCm39)	V653E	probably benign	Het
Kmt2b	A	G	7: 30,274,365 (GRCm39)	V2113A	probably damaging	Het
Knl1	C	T	2: 118,903,054 (GRCm39)	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,161,572 (GRCm39)	M497K	probably benign	Het
Mre11a	T	A	9: 14,710,935 (GRCm39)	W210R	probably damaging	Het
Mrps22	A	G	9: 98,476,748 (GRCm39)	V207A	probably benign	Het
Myo15a	A	G	11: 60,390,256 (GRCm39)	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Nbea	T	A	3: 55,965,461 (GRCm39)	H484L	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,331,430 (GRCm39)	D322V	probably damaging	Het
Nrcam	T	C	12: 44,636,947 (GRCm39)	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,142,394 (GRCm39)	S62P	probably damaging	Het
Nudt18	A	G	14: 70,816,867 (GRCm39)	H157R	probably benign	Het
Or10s1	C	A	9: 39,986,192 (GRCm39)	N200K	probably damaging	Het
Or5g25	T	A	2: 85,477,904 (GRCm39)	T254S	probably damaging	Het
Sidt2	T	C	9: 45,857,002 (GRCm39)	T435A	probably damaging	Het
Snx27	T	C	3: 94,427,540 (GRCm39)	T312A	probably benign	Het
Srebf2	T	C	15: 82,061,720 (GRCm39)	S429P	probably damaging	Het
Suclg2	A	G	6: 95,474,563 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,279 (GRCm39)	E573V	unknown	Het
Tdrd1	A	G	19: 56,850,192 (GRCm39)	T985A	probably benign	Het
Ttc7b	A	G	12: 100,369,698 (GRCm39)	I357T	possibly damaging	Het
Ttn	T	C	2: 76,626,008 (GRCm39)	E13271G	probably damaging	Het
Usp13	A	G	3: 32,969,857 (GRCm39)	E661G	probably damaging	Het
Vasp	T	G	7: 18,992,958 (GRCm39)		probably benign	Het
Vmn2r109	A	T	17: 20,775,503 (GRCm39)	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,770 (GRCm39)	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 41,786,476 (GRCm39)	N426K	probably benign	Het
Znhit2	C	A	19: 6,112,288 (GRCm39)	N344K	probably damaging	Het

Other mutations in Cd209e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Cd209e	APN	8	3,902,800 (GRCm39)	missense	probably benign	0.05
IGL00920:Cd209e	APN	8	3,899,187 (GRCm39)	missense	probably damaging	1.00
IGL01132:Cd209e	APN	8	3,901,274 (GRCm39)	missense	probably benign	0.18
IGL02499:Cd209e	APN	8	3,904,238 (GRCm39)	missense	probably benign
R0124:Cd209e	UTSW	8	3,901,274 (GRCm39)	missense	probably benign	0.08
R0268:Cd209e	UTSW	8	3,899,125 (GRCm39)	missense	probably benign	0.34
R0540:Cd209e	UTSW	8	3,901,265 (GRCm39)	missense	probably benign	0.04
R0744:Cd209e	UTSW	8	3,903,205 (GRCm39)	missense	probably benign	0.00
R0836:Cd209e	UTSW	8	3,903,205 (GRCm39)	missense	probably benign	0.00
R1367:Cd209e	UTSW	8	3,899,084 (GRCm39)	makesense	probably null
R2040:Cd209e	UTSW	8	3,899,158 (GRCm39)	missense	probably damaging	1.00
R2136:Cd209e	UTSW	8	3,903,248 (GRCm39)	missense	probably benign	0.00
R4787:Cd209e	UTSW	8	3,901,181 (GRCm39)	missense	probably null	0.69
R6283:Cd209e	UTSW	8	3,899,212 (GRCm39)	nonsense	probably null
R6338:Cd209e	UTSW	8	3,899,154 (GRCm39)	missense	probably damaging	1.00
R6894:Cd209e	UTSW	8	3,903,569 (GRCm39)	missense	possibly damaging	0.48
R8899:Cd209e	UTSW	8	3,901,212 (GRCm39)	nonsense	probably null
R9594:Cd209e	UTSW	8	3,901,183 (GRCm39)	missense	probably benign	0.00
Z1176:Cd209e	UTSW	8	3,899,196 (GRCm39)	missense	probably benign	0.30
Z1177:Cd209e	UTSW	8	3,901,181 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGACTGATGAGTCCCAGAGGTAA -3'
(R):5'- AAGACTTCATACGATGCAGGTAGCAC -3'

Sequencing Primer
(F):5'- GTCCCAGAGGTAATACTAAGATTTCC -3'
(R):5'- gttttcaacagtgttttcaatgttc -3'

Posted On

2014-01-29