Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Cd209d'

485381

Institutional Source

Beutler Lab

Gene Symbol

Cd209d

Ensembl Gene

ENSMUSG00000031495

Gene Name

CD209d antigen

Synonyms

SIGNR3, mSIGNR3, SIGN-R3

MMRRC Submission

044253-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3921824-3928548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3928304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 27 (Y27C)

Ref Sequence

ENSEMBL: ENSMUSP00000147198 (fasta)

Gene Model

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

AlphaFold

Q91ZW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000011445
AA Change: Y27C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: Y27C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209176
AA Change: Y27C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,768,445 (GRCm39)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,383,942 (GRCm39)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,797,452 (GRCm39)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,401,265 (GRCm39)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,272,055 (GRCm39)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,603,999 (GRCm39)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,508,578 (GRCm39)	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,537,155 (GRCm39)	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,118,446 (GRCm39)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,742,884 (GRCm39)	T1185S	probably benign	Het
Casp2	A	T	6: 42,256,814 (GRCm39)	R357S	probably damaging	Het
Ccdc34	A	G	2: 109,848,352 (GRCm39)	D47G	probably benign	Het
Cd109	A	G	9: 78,605,596 (GRCm39)		probably null	Het
Cep350	T	A	1: 155,800,322 (GRCm39)	D1176V	probably benign	Het
Cpd	A	T	11: 76,690,625 (GRCm39)	S844T	probably benign	Het
Cyp4x1	A	G	4: 114,968,864 (GRCm39)	L380P	probably damaging	Het
Dscam	A	G	16: 96,626,781 (GRCm39)	V376A	probably benign	Het
Enam	T	A	5: 88,650,187 (GRCm39)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,124,794 (GRCm39)	W252*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fgb	T	C	3: 82,951,170 (GRCm39)	D281G	probably benign	Het
Frem2	T	A	3: 53,457,209 (GRCm39)	T2048S	probably benign	Het
Fut8	A	T	12: 77,378,721 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,235,338 (GRCm39)	S238P	probably benign	Het
Gm35315	T	A	5: 110,226,137 (GRCm39)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,620,856 (GRCm39)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,019,820 (GRCm39)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,323,547 (GRCm39)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,312,100 (GRCm39)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,318,917 (GRCm39)	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,553,618 (GRCm39)		probably null	Het
Ms4a3	A	T	19: 11,616,582 (GRCm39)	V20D	possibly damaging	Het
Mtres1	A	T	10: 43,408,916 (GRCm39)	Y76N	probably benign	Het
Myh7b	A	G	2: 155,460,663 (GRCm39)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,158,743 (GRCm39)	G292S	probably damaging	Het
Notch2	T	A	3: 98,043,059 (GRCm39)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,590,163 (GRCm39)	E21K	probably damaging	Het
Or5ar1	A	G	2: 85,671,776 (GRCm39)	Y120H	probably damaging	Het
Osbpl10	T	A	9: 114,890,940 (GRCm39)	Y109*	probably null	Het
Plcd1	A	T	9: 118,901,109 (GRCm39)	W749R	probably benign	Het
Ptpro	A	G	6: 137,377,704 (GRCm39)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,837,947 (GRCm39)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setdb2	T	C	14: 59,646,981 (GRCm39)		probably null	Het
Slc25a18	C	A	6: 120,766,399 (GRCm39)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,064,809 (GRCm39)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,026,979 (GRCm39)	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,275,884 (GRCm39)	V331L	probably benign	Het
Try10	C	A	6: 41,333,484 (GRCm39)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,748,599 (GRCm39)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 9,905,327 (GRCm39)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,652,826 (GRCm39)	T450A	probably benign	Het
Yipf7	A	T	5: 69,698,405 (GRCm39)	V34D	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zg16	A	G	7: 126,649,748 (GRCm39)	V71A	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
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
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'- TGGACTCTGTGCCTCCTATG -3'
(R):5'- AGTAACCATGAGTGACTCCATG -3'

Sequencing Primer
(F):5'- GCCTCCTATGGCCCACAATTC -3'
(R):5'- GTAACCATGAGTGACTCCATGGAATC -3'

Posted On

2017-08-16