Mutagenetix > Incidental Mutation

Incidental Mutation 'R5949:Cd209d'

472326

Institutional Source

Beutler Lab

Gene Symbol

Cd209d

Ensembl Gene

ENSMUSG00000031495

Gene Name

CD209d antigen

Synonyms

SIGNR3, mSIGNR3, SIGN-R3

MMRRC Submission

044139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5949 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3921824-3928548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3927949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 52 (N52Y)

Ref Sequence

ENSEMBL: ENSMUSP00000011445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011445] [ENSMUST00000209176]

AlphaFold

Q91ZW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011445
AA Change: N52Y

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: N52Y

Domain	Start	End	E-Value	Type
low complexity region	54	74	N/A	INTRINSIC
CLECT	106	227	2.34e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209176

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

92% (58/63)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite decreased T and B cell proliferation and extramedullary hematopoiesis in the spleen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,032 (GRCm39)	Y1452C	probably damaging	Het
Adcy10	A	T	1: 165,367,386 (GRCm39)	H552L	possibly damaging	Het
Alms1-ps1	A	T	6: 85,698,943 (GRCm39)		noncoding transcript	Het
Arhgap21	A	G	2: 20,853,852 (GRCm39)	S1837P	probably damaging	Het
Atad5	G	T	11: 79,986,835 (GRCm39)	E641*	probably null	Het
Atp8b4	T	A	2: 126,247,242 (GRCm39)	T276S	probably benign	Het
Bptf	A	G	11: 107,001,915 (GRCm39)	I399T	probably damaging	Het
Carf	A	C	1: 60,178,472 (GRCm39)	K295T	probably damaging	Het
Cdh2	T	A	18: 16,734,687 (GRCm39)	I779F	probably damaging	Het
Cdon	G	A	9: 35,398,247 (GRCm39)	R988H	probably benign	Het
Cfhr4	A	T	1: 139,660,887 (GRCm39)	H600Q	probably damaging	Het
Cic	C	T	7: 24,971,730 (GRCm39)	T487M	probably damaging	Het
Dcps	A	G	9: 35,036,557 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,874 (GRCm39)	C427R	probably damaging	Het
Diras2	T	C	13: 52,661,747 (GRCm39)	K187E	possibly damaging	Het
Emb	A	G	13: 117,403,928 (GRCm39)	I227V	probably benign	Het
Fam193a	T	A	5: 34,597,816 (GRCm39)	S538T	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Galnt6	A	T	15: 100,594,431 (GRCm39)	N533K	probably damaging	Het
Grip1	A	G	10: 119,886,147 (GRCm39)	D499G	probably benign	Het
Ifih1	T	C	2: 62,440,904 (GRCm39)	N421D	probably benign	Het
Ifng	G	C	10: 118,278,529 (GRCm39)	M63I	probably benign	Het
Ighv1-43	A	G	12: 114,910,002 (GRCm39)	M1T	probably null	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt87	A	T	15: 101,385,476 (GRCm39)	C299S	probably damaging	Het
Lrrn1	G	T	6: 107,544,465 (GRCm39)	V88L	probably benign	Het
Mapkapk2	A	G	1: 130,985,742 (GRCm39)	V173A	possibly damaging	Het
Mrap2	T	G	9: 87,064,658 (GRCm39)	V133G	probably benign	Het
Nlrp1a	T	A	11: 70,989,815 (GRCm39)	D984V	probably damaging	Het
Or4c125	A	G	2: 89,170,229 (GRCm39)	V139A	probably damaging	Het
Or5p59	T	C	7: 107,703,404 (GRCm39)	L296P	probably damaging	Het
Pcdh17	T	C	14: 84,684,996 (GRCm39)	Y488H	probably damaging	Het
Pih1d2	C	T	9: 50,536,284 (GRCm39)	P313L	probably damaging	Het
Ralgapb	T	C	2: 158,296,179 (GRCm39)	C839R	probably damaging	Het
Rdh5	C	A	10: 128,754,136 (GRCm39)	R29L	probably benign	Het
Rfx6	A	G	10: 51,554,429 (GRCm39)	D90G	probably benign	Het
Rnf213	A	G	11: 119,333,905 (GRCm39)	Y3038C	probably damaging	Het
Sec14l2	A	T	11: 4,058,972 (GRCm39)	V191D	probably damaging	Het
Slc3a2	T	C	19: 8,690,759 (GRCm39)	Y118C	probably damaging	Het
Sorbs2	T	C	8: 46,222,934 (GRCm39)		probably null	Het
Stab2	A	G	10: 86,805,713 (GRCm39)	L211P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,038,876 (GRCm39)	C289R	probably benign	Het
Tfpi	T	C	2: 84,275,092 (GRCm39)	E172G	probably benign	Het
Tmem106b	T	A	6: 13,083,418 (GRCm39)	M229K	probably damaging	Het
Tsfm	G	A	10: 126,864,244 (GRCm39)	T157M	probably damaging	Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ttn	G	A	2: 76,608,244 (GRCm39)	A17893V	possibly damaging	Het
Vps39	A	G	2: 120,159,149 (GRCm39)	Y380H	probably benign	Het
Xylt2	G	A	11: 94,559,309 (GRCm39)	R383C	probably damaging	Het
Zfp719	C	T	7: 43,233,541 (GRCm39)		probably benign	Het

Other mutations in Cd209d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Cd209d	APN	8	3,927,974 (GRCm39)	splice site	probably null
IGL01707:Cd209d	APN	8	3,928,296 (GRCm39)	missense	probably benign
IGL02864:Cd209d	APN	8	3,927,122 (GRCm39)	missense	probably benign	0.08
IGL03066:Cd209d	APN	8	3,928,437 (GRCm39)	critical splice donor site	probably null
IGL03297:Cd209d	APN	8	3,928,476 (GRCm39)	missense	possibly damaging	0.92
R0324:Cd209d	UTSW	8	3,928,258 (GRCm39)	missense	probably benign	0.31
R1335:Cd209d	UTSW	8	3,922,027 (GRCm39)	missense	probably damaging	1.00
R1349:Cd209d	UTSW	8	3,928,515 (GRCm39)	unclassified	probably benign
R1372:Cd209d	UTSW	8	3,928,515 (GRCm39)	unclassified	probably benign
R1507:Cd209d	UTSW	8	3,928,453 (GRCm39)	missense	possibly damaging	0.72
R1673:Cd209d	UTSW	8	3,927,113 (GRCm39)	missense	probably damaging	1.00
R2393:Cd209d	UTSW	8	3,928,436 (GRCm39)	critical splice donor site	probably null
R2567:Cd209d	UTSW	8	3,926,327 (GRCm39)	missense	probably damaging	1.00
R4907:Cd209d	UTSW	8	3,927,948 (GRCm39)	missense	probably benign	0.01
R5349:Cd209d	UTSW	8	3,928,320 (GRCm39)	missense	probably benign	0.00
R5768:Cd209d	UTSW	8	3,921,968 (GRCm39)	missense	probably benign	0.05
R5953:Cd209d	UTSW	8	3,927,979 (GRCm39)	splice site	probably null
R6103:Cd209d	UTSW	8	3,928,304 (GRCm39)	missense	probably damaging	1.00
R7382:Cd209d	UTSW	8	3,927,965 (GRCm39)	nonsense	probably null
R8714:Cd209d	UTSW	8	3,923,772 (GRCm39)	frame shift	probably null
R8715:Cd209d	UTSW	8	3,923,772 (GRCm39)	frame shift	probably null
R8716:Cd209d	UTSW	8	3,923,772 (GRCm39)	frame shift	probably null
R9672:Cd209d	UTSW	8	3,922,036 (GRCm39)	missense	probably damaging	1.00
R9784:Cd209d	UTSW	8	3,926,337 (GRCm39)	missense	probably damaging	1.00
X0025:Cd209d	UTSW	8	3,927,961 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTAGCACCACTGGAGGTTATG -3'
(R):5'- AGATCCTAAACTTCTCATTCAGTCC -3'

Sequencing Primer
(F):5'- ACCACTGGAGGTTATGTTCTCAAC -3'
(R):5'- AACTTCTCATTCAGTCCTGGGAGATG -3'

Posted On

2017-03-31