Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Cd207'

296236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd207

Ensembl Gene

ENSMUSG00000034783

Gene Name

CD207 antigen

Synonyms

Langerin

Accession Numbers

Essential gene?

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

Stock #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

83648197-83654839 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 83654788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037882]

AlphaFold

Q8VBX4

Predicted Effect

probably benign
Transcript: ENSMUST00000037882

SMART Domains

Protein: ENSMUSP00000040746
Gene: ENSMUSG00000034783

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	198	323	9.42e-30	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]
PHENOTYPE: Nullizygous mice lack Birbeck granules with no marked loss of Langerhans cell (LC) function. Knock-in mice expressing diphtheria toxin (DT) receptors show LC depletion. Heterozygotes for a knock-in allele show DT-induced LC ablation, altered contact hypersensitivity and susceptibility to infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	probably benign	Het

Other mutations in Cd207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Cd207	APN	6	83,652,908 (GRCm39)	missense	possibly damaging	0.95
IGL01101:Cd207	APN	6	83,652,839 (GRCm39)	missense	probably benign	0.25
IGL03309:Cd207	APN	6	83,654,735 (GRCm39)	missense	possibly damaging	0.82
R0004:Cd207	UTSW	6	83,651,230 (GRCm39)	nonsense	probably null
R0646:Cd207	UTSW	6	83,652,738 (GRCm39)	missense	probably benign	0.00
R1709:Cd207	UTSW	6	83,649,818 (GRCm39)	missense	possibly damaging	0.92
R1756:Cd207	UTSW	6	83,652,579 (GRCm39)	missense	probably benign
R1867:Cd207	UTSW	6	83,652,635 (GRCm39)	missense	probably damaging	0.99
R1868:Cd207	UTSW	6	83,648,683 (GRCm39)	nonsense	probably null
R1955:Cd207	UTSW	6	83,648,757 (GRCm39)	missense	probably benign	0.42
R5005:Cd207	UTSW	6	83,651,367 (GRCm39)	missense	possibly damaging	0.95
R5024:Cd207	UTSW	6	83,651,301 (GRCm39)	missense	probably damaging	1.00
R6430:Cd207	UTSW	6	83,652,869 (GRCm39)	missense	probably benign	0.06
R7401:Cd207	UTSW	6	83,654,830 (GRCm39)	start gained	probably benign
R8995:Cd207	UTSW	6	83,652,891 (GRCm39)	missense	probably damaging	1.00
R9314:Cd207	UTSW	6	83,652,699 (GRCm39)	missense	probably damaging	0.98
R9366:Cd207	UTSW	6	83,648,779 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16