Mutagenetix > Incidental Mutation

Incidental Mutation 'R9672:Cd209d'

728091

Institutional Source

Beutler Lab

Gene Symbol

Cd209d

Ensembl Gene

ENSMUSG00000031495

Gene Name

CD209d antigen

Synonyms

SIGNR3, mSIGNR3, SIGN-R3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3921824-3928548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 3922036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 212 (G212A)

Ref Sequence

ENSEMBL: ENSMUSP00000011445 (fasta)

Gene Model

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

AlphaFold

Q91ZW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000011445
AA Change: G212A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: G212A

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: G182A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,838,563 (GRCm39)	K612N	probably null	Het
Atrnl1	G	A	19: 57,618,695 (GRCm39)	A138T	possibly damaging	Het
Bicc1	T	C	10: 70,794,666 (GRCm39)	T164A	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc7a	A	G	8: 129,671,016 (GRCm39)	S497P	unknown	Het
Cog8	A	G	8: 107,780,658 (GRCm39)	I200T	probably damaging	Het
Cuzd1	T	A	7: 130,919,847 (GRCm39)	I90F	possibly damaging	Het
Cyp4a30b	T	A	4: 115,316,576 (GRCm39)	C401S	probably benign	Het
Cyp4a31	T	A	4: 115,427,422 (GRCm39)	N209K	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dcaf11	T	A	14: 55,806,484 (GRCm39)	Y468*	probably null	Het
Dennd4a	A	G	9: 64,800,640 (GRCm39)	D926G	probably benign	Het
Dph7	T	C	2: 24,855,606 (GRCm39)	L135P	probably benign	Het
Fcho2	A	T	13: 98,869,178 (GRCm39)	C564*	probably null	Het
Gabrb2	G	A	11: 42,312,207 (GRCm39)	G11R	probably benign	Het
Gas6	A	G	8: 13,528,273 (GRCm39)	S187P	probably benign	Het
Gemin5	C	T	11: 58,058,585 (GRCm39)	V93I	probably benign	Het
Gldn	A	T	9: 54,245,780 (GRCm39)	I444F	probably damaging	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hand1	A	G	11: 57,722,516 (GRCm39)	S33P	possibly damaging	Het
Ice2	G	A	9: 69,322,899 (GRCm39)	A465T	probably benign	Het
Irf9	T	C	14: 55,842,129 (GRCm39)	S2P	probably benign	Het
Kpna7	C	T	5: 144,944,776 (GRCm39)	M21I	probably benign	Het
Lig4	A	G	8: 10,023,213 (GRCm39)	M189T	probably damaging	Het
Lrp1b	T	C	2: 40,779,291 (GRCm39)	T2698A		Het
Med10	A	G	13: 69,963,711 (GRCm39)	K104R	probably benign	Het
Mfsd14b	A	G	13: 65,260,320 (GRCm39)	W38R	probably benign	Het
Mrgpra2a	A	G	7: 47,076,490 (GRCm39)	F256S	probably benign	Het
Myo9a	A	G	9: 59,687,332 (GRCm39)	K146E	probably benign	Het
Oxgr1	T	A	14: 120,259,454 (GRCm39)	Y251F	probably damaging	Het
Pabpc4	T	C	4: 123,184,133 (GRCm39)		probably null	Het
Pde8a	A	G	7: 80,942,014 (GRCm39)	N151S	probably damaging	Het
Pdilt	A	G	7: 119,100,824 (GRCm39)	F176L	possibly damaging	Het
Plekhg5	C	A	4: 152,187,541 (GRCm39)	D115E	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Ppp1r9a	T	C	6: 5,007,889 (GRCm39)	C532R	unknown	Het
Rasa2	A	G	9: 96,427,781 (GRCm39)	W695R	probably damaging	Het
Rbpms2	A	G	9: 65,538,118 (GRCm39)	N3S	probably benign	Het
Rsph6a	A	G	7: 18,799,842 (GRCm39)	Y491C	probably damaging	Het
Scel	T	A	14: 103,836,838 (GRCm39)	N495K	possibly damaging	Het
Setd1a	T	C	7: 127,385,237 (GRCm39)	L648P	possibly damaging	Het
Snx29	A	T	16: 11,478,515 (GRCm39)	R333S	probably benign	Het
Sppl2c	A	G	11: 104,077,344 (GRCm39)	Y48C	probably damaging	Het
Uba2	A	T	7: 33,856,749 (GRCm39)	N230K	probably benign	Het
Utrn	T	C	10: 12,603,613 (GRCm39)	Q589R	possibly damaging	Het
Vmn1r51	T	A	6: 90,106,549 (GRCm39)	L155H	probably damaging	Het
Vmn2r97	A	G	17: 19,149,442 (GRCm39)	N277D	probably benign	Het
Wdr97	T	A	15: 76,240,377 (GRCm39)	V355E		Het
Yy1	C	A	12: 108,759,584 (GRCm39)	H82Q	unknown	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
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
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'- GTGGCCCAAATCCATAGAGG -3'
(R):5'- GGCCAGCCTAACCTAGACAATG -3'

Sequencing Primer
(F):5'- TTAGCGTCCTAAAGTCAAAAGACAAG -3'
(R):5'- GCCTCATTGAGACTCTATTCTTCAG -3'

Posted On

2022-10-06