Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Cd209e'

508054

Institutional Source

Beutler Lab

Gene Symbol

Cd209e

Ensembl Gene

ENSMUSG00000040197

Gene Name

CD209e antigen

Synonyms

SIGNR4, mSIGNR4

MMRRC Submission

044453-MU

Accession Numbers

Essential gene?

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

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3897973-3904286 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 3899212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 167 (Q167*)

Ref Sequence

ENSEMBL: ENSMUSP00000033888 (fasta)

Gene Model

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

AlphaFold

Q91ZW7

Predicted Effect

probably null
Transcript: ENSMUST00000033888
AA Change: Q167*

SMART Domains

Protein: ENSMUSP00000033888
Gene: ENSMUSG00000040197
AA Change: Q167*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	C	A	8: 123,512,694 (GRCm39)	R372S	probably damaging	Het
Adamts20	A	G	15: 94,249,602 (GRCm39)	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,641,992 (GRCm39)	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486 (GRCm39)	E305G	possibly damaging	Het
Ccdc83	T	A	7: 89,885,615 (GRCm39)	R257*	probably null	Het
Cd300e	G	A	11: 114,945,380 (GRCm39)	T138I	probably benign	Het
Ces2c	A	T	8: 105,576,331 (GRCm39)	M115L	probably benign	Het
Cfap61	T	A	2: 145,971,022 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cks2	A	G	13: 51,799,495 (GRCm39)	H16R	probably benign	Het
Copa	A	T	1: 171,946,415 (GRCm39)	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,831,749 (GRCm39)	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 95,945,074 (GRCm39)	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,582,234 (GRCm39)	V404A	probably benign	Het
Dock2	T	C	11: 34,598,152 (GRCm39)	S340G	probably damaging	Het
Ggps1	A	G	13: 14,232,379 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11444	T	C	11: 85,737,617 (GRCm39)		probably null	Het
Grina	A	G	15: 76,132,751 (GRCm39)	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,029,133 (GRCm39)	T223I	probably benign	Het
Igsf10	T	A	3: 59,226,870 (GRCm39)	T2268S	probably damaging	Het
Inhca	G	A	9: 103,159,834 (GRCm39)	R14*	probably null	Het
Ino80d	C	T	1: 63,101,285 (GRCm39)	R447Q	probably damaging	Het
Inpp4b	C	T	8: 82,497,462 (GRCm39)	T94M	probably damaging	Het
Itga2	A	G	13: 115,005,786 (GRCm39)	Y465H	probably damaging	Het
Knl1	A	G	2: 118,900,767 (GRCm39)	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,741,861 (GRCm39)	S180P	unknown	Het
Ldc1	A	G	4: 130,115,534 (GRCm39)	S5P	probably benign	Het
Lpar6	A	T	14: 73,476,297 (GRCm39)	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,370,601 (GRCm39)	C2500*	probably null	Het
Mzf1	T	C	7: 12,787,296 (GRCm39)		probably benign	Het
Or4f58	A	C	2: 111,851,605 (GRCm39)	M198R	possibly damaging	Het
Or5d46	T	A	2: 88,170,002 (GRCm39)	I31N	probably benign	Het
Or5m3	G	T	2: 85,838,443 (GRCm39)	V108L	possibly damaging	Het
Or7a36	T	C	10: 78,820,113 (GRCm39)	V163A	probably benign	Het
Otogl	T	G	10: 107,626,361 (GRCm39)	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,335,989 (GRCm39)	S768T	possibly damaging	Het
Pcnx2	G	T	8: 126,604,325 (GRCm39)	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,259,449 (GRCm39)	I180F	possibly damaging	Het
Pinx1	A	C	14: 64,115,621 (GRCm39)	N152T	probably benign	Het
Prr14l	T	C	5: 32,987,608 (GRCm39)	E629G	probably benign	Het
Qpctl	T	A	7: 18,882,345 (GRCm39)	I104F	probably benign	Het
Rabep1	C	T	11: 70,808,505 (GRCm39)	A444V	probably damaging	Het
Rnf150	A	G	8: 83,717,183 (GRCm39)	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,968,621 (GRCm39)	V152G	probably damaging	Het
Swt1	A	G	1: 151,260,084 (GRCm39)	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,523,701 (GRCm39)	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tmem265	T	G	7: 127,164,044 (GRCm39)	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,276,054 (GRCm39)	H551Y	probably benign	Het
Ttc6	T	G	12: 57,749,048 (GRCm39)	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,587,729 (GRCm39)	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,521,049 (GRCm39)	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,524,366 (GRCm39)	M120K	probably benign	Het
Zfp804b	T	A	5: 6,819,908 (GRCm39)	I1016F	probably benign	Het
Zfp90	T	C	8: 107,152,026 (GRCm39)	C580R	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
R1241:Cd209e	UTSW	8	3,899,124 (GRCm39)	missense	probably damaging	0.99
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
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'- CCAACTGGGATGTTTAGGCTG -3'
(R):5'- AGACTTCATACGATGCAGGTAGC -3'

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

Posted On

2018-03-15