Mutagenetix > Incidental Mutation

Incidental Mutation 'R1372:Cd209d'

157367

Institutional Source

Beutler Lab

Gene Symbol

Cd209d

Ensembl Gene

ENSMUSG00000031495

Gene Name

CD209d antigen

Synonyms

SIGNR3, mSIGNR3, SIGN-R3

MMRRC Submission

039436-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1372 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3921824-3928548 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 3928515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147198 (fasta)

Gene Model

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

AlphaFold

Q91ZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000011445

SMART Domains

Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.7%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,696 (GRCm39)	Q137L	possibly damaging	Het
Abca12	A	G	1: 71,334,016 (GRCm39)	I1162T	probably damaging	Het
Adcy2	T	A	13: 68,816,652 (GRCm39)	N778I	probably damaging	Het
Adgre5	G	A	8: 84,454,949 (GRCm39)	P248S	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,467,218 (GRCm39)	M248K	probably benign	Het
Asxl3	T	G	18: 22,543,066 (GRCm39)	S20A	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Car10	A	T	11: 93,469,525 (GRCm39)	T167S	probably benign	Het
Cbx7	C	T	15: 79,803,074 (GRCm39)	G160R	probably damaging	Het
Cdca4	G	A	12: 112,785,537 (GRCm39)	Q64*	probably null	Het
Cela2a	C	T	4: 141,546,405 (GRCm39)	G178D	probably damaging	Het
Cntnap5b	G	A	1: 100,091,813 (GRCm39)	D499N	probably benign	Het
Cox7a2	G	A	9: 79,665,819 (GRCm39)	R21*	probably null	Het
Crmp1	G	A	5: 37,446,155 (GRCm39)	G604R	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cxcr1	T	C	1: 74,231,161 (GRCm39)	D287G	probably benign	Het
Cyp4a12b	T	C	4: 115,290,146 (GRCm39)	I233T	probably benign	Het
Dlg1	T	C	16: 31,631,638 (GRCm39)	I208T	probably damaging	Het
Dsg4	C	A	18: 20,582,733 (GRCm39)		probably null	Het
Epha3	A	G	16: 63,431,416 (GRCm39)	I495T	possibly damaging	Het
Hmcn1	A	T	1: 150,556,466 (GRCm39)	M2440K	probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Leo1	T	C	9: 75,356,751 (GRCm39)	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,383,472 (GRCm39)	F583L	possibly damaging	Het
Mphosph9	A	T	5: 124,421,808 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,891,401 (GRCm39)	V579A	probably damaging	Het
Oca2	T	A	7: 56,185,716 (GRCm39)	M814K	probably benign	Het
Odad3	C	T	9: 21,904,916 (GRCm39)	R290H	probably damaging	Het
Pdgfra	A	G	5: 75,349,924 (GRCm39)	E936G	probably damaging	Het
Pkd1	T	C	17: 24,794,240 (GRCm39)	C1976R	probably damaging	Het
Plekhg5	G	A	4: 152,189,188 (GRCm39)	R243H	probably damaging	Het
Pogz	T	A	3: 94,768,199 (GRCm39)	L126M	probably damaging	Het
Rbm15	G	T	3: 107,239,946 (GRCm39)	R151S	possibly damaging	Het
Rec8	T	C	14: 55,856,431 (GRCm39)	Y68H	probably damaging	Het
Rhcg	A	T	7: 79,249,122 (GRCm39)	D366E	probably benign	Het
Ryr3	T	A	2: 112,664,546 (GRCm39)	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,256,160 (GRCm39)	W853R	probably damaging	Het
Spopfm1	A	G	3: 94,173,435 (GRCm39)	T148A	possibly damaging	Het
Tnxb	T	C	17: 34,929,267 (GRCm39)	V2770A	possibly damaging	Het
Vmn2r63	A	G	7: 42,578,642 (GRCm39)	F84L	possibly damaging	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
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
R5949:Cd209d	UTSW	8	3,927,949 (GRCm39)	missense	possibly damaging	0.50
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'- TCTCCATCTCCCAGGACTGAATGAG -3'
(R):5'- GGCTCTCCAATCCTTAGCACAAGTG -3'

Sequencing Primer
(F):5'- AGGATCTCAACTTCAATTTCCCAGG -3'
(R):5'- GGTGTCCCATAAATTTGGTCAC -3'

Posted On

2014-02-18