Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:Cd209b'

545569

Institutional Source

Beutler Lab

Gene Symbol

Cd209b

Ensembl Gene

ENSMUSG00000065987

Gene Name

CD209b antigen

Synonyms

1810030I22Rik, mSIGNR1, SIGNR1

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3967655-3976841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3968783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 282 (E282V)

Ref Sequence

ENSEMBL: ENSMUSP00000140695 (fasta)

Gene Model

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

AlphaFold

Q8CJ91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084086
AA Change: E291V

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081104
Gene: ENSMUSG00000065987
AA Change: E291V

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

SMART Domains

Protein: ENSMUSP00000106643
Gene: ENSMUSG00000065987

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171635
AA Change: E261V

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126070
Gene: ENSMUSG00000065987
AA Change: E261V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188386
AA Change: E282V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140695
Gene: ENSMUSG00000065987
AA Change: E282V

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,634,975 (GRCm39)	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127 (GRCm39)	Y384C	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Iglon5	A	T	7: 43,126,319 (GRCm39)	C195S	probably damaging	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5g23	A	G	2: 85,438,976 (GRCm39)	S93P	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Rtl1	T	C	12: 109,558,749 (GRCm39)	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	probably damaging	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
R7187:Cd209b	UTSW	8	3,976,638 (GRCm39)	missense	probably benign
R7695:Cd209b	UTSW	8	3,976,005 (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'- TTTCACGATCCTGAGGCCAAC -3'
(R):5'- GTCATTTTCCAAAGCCAGCAG -3'

Sequencing Primer
(F):5'- CAGGAAGAAGGAGCTGGCAC -3'
(R):5'- ATGCCCCCATCTCCAGAGG -3'

Posted On

2019-05-13