Mutagenetix > Incidental Mutation

Incidental Mutation 'R7695:Cd209b'

593607

Institutional Source

Beutler Lab

Gene Symbol

Cd209b

Ensembl Gene

ENSMUSG00000065987

Gene Name

CD209b antigen

Synonyms

1810030I22Rik, mSIGNR1, SIGNR1

MMRRC Submission

045758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3967655-3976841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3976005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000081104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084086] [ENSMUST00000111014] [ENSMUST00000171635] [ENSMUST00000188386]

AlphaFold

Q8CJ91

PDB Structure

Crystallographic structure of the native mouse SIGN-R1 CRD domain [X-RAY DIFFRACTION]
Structure of SIGN-R1 in complex with Sulfodextran [X-RAY DIFFRACTION]
Crystallographic structure of the mouse SIGN-R1 CRD domain in complex with sialic acid [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000084086
AA Change: V52A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081104
Gene: ENSMUSG00000065987
AA Change: V52A

Domain	Start	End	E-Value	Type
transmembrane domain	53	75	N/A	INTRINSIC
low complexity region	91	102	N/A	INTRINSIC
CLECT	195	316	3.63e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111014
AA Change: V52A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106643
Gene: ENSMUSG00000065987
AA Change: V52A

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
CLECT	165	307	2.43e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171635

SMART Domains

Protein: ENSMUSP00000126070
Gene: ENSMUSG00000065987

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
CLECT	165	286	3.63e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188386

SMART Domains

Protein: ENSMUSP00000140695
Gene: ENSMUSG00000065987

Domain	Start	End	E-Value	Type
low complexity region	61	72	N/A	INTRINSIC
CLECT	165	307	2.43e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants are more susceptible to S. pneumoniae infection and fail to clear the bacteria from the circulation. Marginal zone and peritoneal macrophages are impaired in recognizing the bacteria. [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
Adgrb1	T	C	15: 74,415,487 (GRCm39)	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641 (GRCm39)	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,868,668 (GRCm39)	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,908,421 (GRCm39)	I164N	probably damaging	Het
Celsr2	G	A	3: 108,310,069 (GRCm39)	R1554W	probably damaging	Het
Cnot1	A	T	8: 96,497,260 (GRCm39)	I239N	probably benign	Het
Csmd3	A	T	15: 47,683,777 (GRCm39)	V948D		Het
Dnmt1	C	A	9: 20,825,281 (GRCm39)	G1061V	probably null	Het
Dpysl4	A	G	7: 138,666,039 (GRCm39)	M1V	probably null	Het
Elp5	T	C	11: 69,860,327 (GRCm39)	T227A	probably benign	Het
Exosc1	G	A	19: 41,916,519 (GRCm39)	H86Y	possibly damaging	Het
Foxn4	G	T	5: 114,394,648 (GRCm39)	D426E	probably damaging	Het
Gabbr2	A	G	4: 46,875,687 (GRCm39)	L145P	probably damaging	Het
Gkn3	A	G	6: 87,361,422 (GRCm39)	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,962,463 (GRCm39)	F148S		Het
Gm3558	A	G	14: 19,121,623 (GRCm39)	I76T	probably benign	Het
Gm49359	A	G	13: 62,604,558 (GRCm39)	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,330,026 (GRCm39)	H63L	unknown	Het
H2bl1	T	C	13: 99,120,766 (GRCm39)	T87A	probably damaging	Het
Hbs1l	A	T	10: 21,175,116 (GRCm39)	D28V	possibly damaging	Het
Ide	G	A	19: 37,306,435 (GRCm39)	H113Y		Het
Igkv3-3	A	T	6: 70,664,295 (GRCm39)	S46C	probably damaging	Het
Igsf10	A	T	3: 59,233,612 (GRCm39)	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,511,174 (GRCm39)	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,927,612 (GRCm39)	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,511,297 (GRCm39)	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,646,769 (GRCm39)	I485F	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mast1	A	G	8: 85,647,557 (GRCm39)	V560A	probably damaging	Het
Mfap4	A	T	11: 61,376,545 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,650,936 (GRCm39)	I1637T	probably benign	Het
Neo1	A	T	9: 58,810,212 (GRCm39)	F1080I	possibly damaging	Het
Or1e17	T	A	11: 73,831,720 (GRCm39)	V216E	possibly damaging	Het
Or4k48	A	G	2: 111,475,970 (GRCm39)	V124A	probably damaging	Het
Or4x6	A	G	2: 89,949,207 (GRCm39)	V245A	probably benign	Het
Or51a25	T	C	7: 102,372,866 (GRCm39)	H277R	probably benign	Het
Pax2	A	G	19: 44,821,638 (GRCm39)	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,588,350 (GRCm39)	M53L	probably benign	Het
Pkd2l2	T	A	18: 34,561,298 (GRCm39)	D435E	possibly damaging	Het
Plec	G	A	15: 76,068,055 (GRCm39)	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 37,104,526 (GRCm39)	L302P	probably damaging	Het
Prex2	T	C	1: 11,232,497 (GRCm39)	F855L	probably benign	Het
Reg3d	A	T	6: 78,354,119 (GRCm39)	W103R	probably benign	Het
Rnf216	A	C	5: 143,071,659 (GRCm39)	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,542,251 (GRCm39)	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,270 (GRCm39)	Y844F	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spp1	T	C	5: 104,583,009 (GRCm39)		probably benign	Het
Tacc2	T	A	7: 130,330,633 (GRCm39)	S196T	probably benign	Het
Thrap3	G	A	4: 126,073,891 (GRCm39)	S285L	probably damaging	Het
Ttn	T	A	2: 76,666,305 (GRCm39)	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740 (GRCm39)	S341P	probably damaging	Het
Upf3a	T	G	8: 13,848,279 (GRCm39)	S358R	probably benign	Het
Zdbf2	T	A	1: 63,346,529 (GRCm39)	I1636N	possibly damaging	Het
Zfp946	C	A	17: 22,674,002 (GRCm39)	T252N	probably benign	Het

Other mutations in Cd209b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Cd209b	APN	8	3,969,945 (GRCm39)	splice site	probably benign
IGL01596:Cd209b	APN	8	3,968,744 (GRCm39)	missense	probably damaging	1.00
IGL03211:Cd209b	APN	8	3,968,830 (GRCm39)	splice site	probably benign
R1434:Cd209b	UTSW	8	3,973,367 (GRCm39)	missense	possibly damaging	0.49
R4127:Cd209b	UTSW	8	3,968,714 (GRCm39)	missense	probably damaging	1.00
R4387:Cd209b	UTSW	8	3,975,960 (GRCm39)	missense	probably damaging	0.99
R4388:Cd209b	UTSW	8	3,975,960 (GRCm39)	missense	probably damaging	0.99
R4389:Cd209b	UTSW	8	3,975,960 (GRCm39)	missense	probably damaging	0.99
R4708:Cd209b	UTSW	8	3,974,215 (GRCm39)	missense	probably damaging	0.99
R4710:Cd209b	UTSW	8	3,974,215 (GRCm39)	missense	probably damaging	0.99
R4911:Cd209b	UTSW	8	3,976,640 (GRCm39)	critical splice acceptor site	probably null
R5454:Cd209b	UTSW	8	3,975,396 (GRCm39)	missense	probably damaging	0.98
R5814:Cd209b	UTSW	8	3,973,348 (GRCm39)	missense	probably damaging	0.99
R5853:Cd209b	UTSW	8	3,976,549 (GRCm39)	splice site	probably null
R5867:Cd209b	UTSW	8	3,974,246 (GRCm39)	missense	possibly damaging	0.62
R5996:Cd209b	UTSW	8	3,968,688 (GRCm39)	missense	probably benign	0.39
R7020:Cd209b	UTSW	8	3,968,783 (GRCm39)	missense	probably damaging	0.99
R7187:Cd209b	UTSW	8	3,976,638 (GRCm39)	missense	probably benign
R7712:Cd209b	UTSW	8	3,973,299 (GRCm39)	missense	possibly damaging	0.83
R7975:Cd209b	UTSW	8	3,975,948 (GRCm39)	missense	probably benign	0.41
R8309:Cd209b	UTSW	8	3,976,559 (GRCm39)	nonsense	probably null
R8317:Cd209b	UTSW	8	3,972,018 (GRCm39)	missense	probably damaging	0.99
R9159:Cd209b	UTSW	8	3,974,245 (GRCm39)	missense	possibly damaging	0.70
R9214:Cd209b	UTSW	8	3,968,771 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AAGATATGCCATCCACCTGC -3'
(R):5'- ACAGGGAATTGAGGGTCCTG -3'

Sequencing Primer
(F):5'- ATATGCCATCCACCTGCACTGTC -3'
(R):5'- TGATGCAAGGAATTAAGAGTCTTG -3'

Posted On

2019-11-12