Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Cd209e'

225529

Institutional Source

Beutler Lab

Gene Symbol

Cd209e

Ensembl Gene

ENSMUSG00000040197

Gene Name

CD209e antigen

Synonyms

SIGNR4, mSIGNR4

MMRRC Submission

040047-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R2040 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

3897973-3904286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3899158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 185 (N185Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033888 (fasta)

Gene Model

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

AlphaFold

Q91ZW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033888
AA Change: N185Y

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

SMART Domains

Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: N185Y

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

Meta Mutation Damage Score

0.7186

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,607 (GRCm39)	I75L	probably benign	Het
Abca2	T	C	2: 25,333,817 (GRCm39)	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,454,364 (GRCm39)	I394L	probably benign	Het
Ano2	T	A	6: 126,016,471 (GRCm39)	N1001K	probably benign	Het
Arap2	A	T	5: 62,906,259 (GRCm39)	N253K	probably damaging	Het
Ascc3	T	C	10: 50,604,227 (GRCm39)	C1316R	probably benign	Het
Atox1	T	C	11: 55,341,343 (GRCm39)	Y64C	probably benign	Het
Atp13a1	A	G	8: 70,259,702 (GRCm39)	T1098A	possibly damaging	Het
Casr	T	C	16: 36,330,728 (GRCm39)	E202G	possibly damaging	Het
Cct2	T	C	10: 116,889,018 (GRCm39)	T494A	probably benign	Het
Celsr1	A	G	15: 85,917,088 (GRCm39)	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,686,499 (GRCm39)	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,121,567 (GRCm39)	S37G	probably benign	Het
Fbh1	T	G	2: 11,774,706 (GRCm39)	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem3	G	T	8: 81,342,455 (GRCm39)	V1583L	possibly damaging	Het
Gm21863	C	A	12: 20,004,515 (GRCm39)	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,452,132 (GRCm39)	T25A	possibly damaging	Het
Gm8674	T	C	13: 50,055,705 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,752,651 (GRCm39)	H897R	probably damaging	Het
Hells	A	G	19: 38,943,474 (GRCm39)	D565G	probably damaging	Het
Hfm1	C	T	5: 107,049,684 (GRCm39)	V426I	probably damaging	Het
Ints6	G	A	14: 62,951,138 (GRCm39)	T297I	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,268,845 (GRCm39)	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,938,069 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,815,807 (GRCm39)	D1230E	probably benign	Het
Mboat1	T	C	13: 30,425,300 (GRCm39)		probably null	Het
Moxd2	T	C	6: 40,861,887 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,495,916 (GRCm39)	M527T	probably damaging	Het
Myt1	T	A	2: 181,467,717 (GRCm39)	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,248,000 (GRCm39)	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,261,875 (GRCm39)	C48Y	probably damaging	Het
Opn3	G	A	1: 175,491,145 (GRCm39)	A296V	possibly damaging	Het
Or13a22	T	C	7: 140,073,295 (GRCm39)	I248T	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Pam	T	C	1: 97,792,167 (GRCm39)	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,525,126 (GRCm39)	N493K	probably damaging	Het
Ptpn18	A	G	1: 34,509,300 (GRCm39)	Q165R	probably damaging	Het
Ptpro	C	A	6: 137,363,162 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,833,107 (GRCm39)	F132S	probably damaging	Het
Robo1	T	C	16: 72,730,630 (GRCm39)	C244R	probably damaging	Het
Robo3	A	C	9: 37,338,760 (GRCm39)	V316G	probably damaging	Het
Rsl1	T	C	13: 67,330,145 (GRCm39)	S198P	probably damaging	Het
Rsph9	T	C	17: 46,445,910 (GRCm39)	D220G	probably damaging	Het
Rxfp2	A	C	5: 149,993,677 (GRCm39)	I580L	probably benign	Het
Septin7	G	A	9: 25,199,532 (GRCm39)	A144T	possibly damaging	Het
Sfn	T	C	4: 133,328,603 (GRCm39)	K160E	probably benign	Het
Ski	A	G	4: 155,306,029 (GRCm39)	Y317H	probably damaging	Het
Skic3	A	C	13: 76,328,222 (GRCm39)	R1423S	probably damaging	Het
Slc22a22	A	T	15: 57,110,936 (GRCm39)	Y430*	probably null	Het
Src	A	G	2: 157,299,030 (GRCm39)	K9R	probably benign	Het
Srm	C	T	4: 148,678,453 (GRCm39)	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,730,075 (GRCm39)	N90I	probably damaging	Het
Sytl2	T	A	7: 90,031,069 (GRCm39)		probably benign	Het
Tbpl2	T	C	2: 23,984,871 (GRCm39)	K92R	probably benign	Het
Tlcd4	G	T	3: 121,024,975 (GRCm39)		probably benign	Het
Tmem38a	T	A	8: 73,335,096 (GRCm39)	N178K	probably damaging	Het
Tnfaip3	T	C	10: 18,883,900 (GRCm39)	D160G	possibly damaging	Het
Vegfb	T	A	19: 6,963,407 (GRCm39)	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,395 (GRCm39)	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,661,561 (GRCm39)	L436F	probably damaging	Het
Wdr47	T	C	3: 108,530,688 (GRCm39)	C394R	probably benign	Het
Ythdc2	T	A	18: 44,988,241 (GRCm39)	Y16*	probably null	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,535,333 (GRCm39)		noncoding transcript	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
R1241:Cd209e	UTSW	8	3,899,124 (GRCm39)	missense	probably damaging	0.99
R1367:Cd209e	UTSW	8	3,899,084 (GRCm39)	makesense	probably null
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'- TGCCCATAGACAGGGAGTAGGA -3'
(R):5'- AAGACTTCATACGATGCAGGT -3'

Sequencing Primer
(F):5'- AACTGGGAAACGCATGAGTG -3'
(R):5'- AAGGTCTGTCCATCACGATG -3'

Posted On

2014-08-25