Mutagenetix > Incidental Mutation

Incidental Mutation 'R6307:Cd200'

509505

Institutional Source

Beutler Lab

Gene Symbol

Cd200

Ensembl Gene

ENSMUSG00000022661

Gene Name

CD200 molecule

Synonyms

MRC OX-2, Mox2, OX2

MMRRC Submission

044412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45202498-45229416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45217545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 49 (V49L)

Ref Sequence

ENSEMBL: ENSMUSP00000132506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023341] [ENSMUST00000163230] [ENSMUST00000166512] [ENSMUST00000167355]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023341
AA Change: V70L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023341
Gene: ENSMUSG00000022661
AA Change: V70L

Domain	Start	End	E-Value	Type
IGv	46	123	5.24e-7	SMART
Pfam:C2-set_2	142	220	2.6e-9	PFAM
Pfam:Ig_2	148	206	2.9e-3	PFAM
Pfam:ig	153	216	6.4e-8	PFAM
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163230
AA Change: V70L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130518
Gene: ENSMUSG00000022661
AA Change: V70L

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IGv	46	123	5.24e-7	SMART
Pfam:C2-set_2	142	221	5.5e-8	PFAM
Pfam:ig	143	229	8e-11	PFAM
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165910

Predicted Effect

probably benign
Transcript: ENSMUST00000166512
AA Change: V70L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129541
Gene: ENSMUSG00000022661
AA Change: V70L

Domain	Start	End	E-Value	Type
IGv	46	123	5.24e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166630

Predicted Effect

probably benign
Transcript: ENSMUST00000167355
AA Change: V49L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132506
Gene: ENSMUSG00000022661
AA Change: V49L

Domain	Start	End	E-Value	Type
IGv	25	102	5.24e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172297

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,843,221 (GRCm39)	L1232P	probably damaging	Het
Akap6	A	T	12: 53,188,351 (GRCm39)	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,647,206 (GRCm39)	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,510,090 (GRCm39)	V430F	probably benign	Het
Bod1	A	G	11: 31,616,932 (GRCm39)	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,590,914 (GRCm39)	V1453F	probably damaging	Het
Capn8	T	A	1: 182,435,264 (GRCm39)	M414K	probably damaging	Het
Cbl	A	T	9: 44,069,809 (GRCm39)		probably null	Het
Ccdc42	A	T	11: 68,479,106 (GRCm39)	Q98L	probably damaging	Het
Ccn3	T	C	15: 54,611,421 (GRCm39)		probably null	Het
Celsr1	A	G	15: 85,812,531 (GRCm39)	S2060P	probably benign	Het
Ces1g	A	T	8: 94,057,820 (GRCm39)	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,668,831 (GRCm39)	H161Q	probably damaging	Het
Ctns	G	A	11: 73,082,559 (GRCm39)	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,057,871 (GRCm39)	F536L	probably benign	Het
Dcc	C	T	18: 71,943,826 (GRCm39)	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,289,990 (GRCm39)	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,269,757 (GRCm39)	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,849,507 (GRCm39)	V17G	possibly damaging	Het
Farsa	T	C	8: 85,587,674 (GRCm39)		probably null	Het
Fat2	G	C	11: 55,172,106 (GRCm39)	T2869S	possibly damaging	Het
Fgg	A	T	3: 82,920,283 (GRCm39)	Q354L	probably damaging	Het
Folh1	T	C	7: 86,372,517 (GRCm39)	D679G	probably damaging	Het
Gbp4	T	A	5: 105,270,975 (GRCm39)	R83*	probably null	Het
Gm17482	T	A	6: 115,204,311 (GRCm39)		probably benign	Het
Hmgxb4	T	A	8: 75,749,927 (GRCm39)	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,552,619 (GRCm39)	Y926D	probably damaging	Het
Ikzf5	T	A	7: 130,993,377 (GRCm39)	N264Y	probably damaging	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Krt33b	A	T	11: 99,915,694 (GRCm39)	C351S	probably benign	Het
Lrp1	T	C	10: 127,427,944 (GRCm39)	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,053,021 (GRCm39)	R339W	probably damaging	Het
Mapk3	T	G	7: 126,363,454 (GRCm39)	M276R	probably benign	Het
Mgst1	T	C	6: 138,127,827 (GRCm39)	V137A	probably benign	Het
Muc16	T	C	9: 18,558,884 (GRCm39)	T2470A	unknown	Het
Muc4	C	T	16: 32,575,237 (GRCm39)	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,180,198 (GRCm39)	K713T	possibly damaging	Het
Myzap	T	C	9: 71,466,146 (GRCm39)	D170G	possibly damaging	Het
Naa50	T	C	16: 43,979,831 (GRCm39)	V113A	probably damaging	Het
Neu3	T	C	7: 99,462,929 (GRCm39)	T265A	probably benign	Het
Nin	T	C	12: 70,061,631 (GRCm39)	T2078A	possibly damaging	Het
Nomo1	G	A	7: 45,683,260 (GRCm39)		probably benign	Het
Nprl3	A	G	11: 32,189,828 (GRCm39)	L273P	probably damaging	Het
Oaf	T	A	9: 43,136,216 (GRCm39)	H120L	possibly damaging	Het
Or10s1	T	C	9: 39,985,824 (GRCm39)	S78P	probably damaging	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k21	T	C	2: 86,145,468 (GRCm39)	H54R	probably benign	Het
Pcdhga3	T	A	18: 37,809,674 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,837,718 (GRCm39)		probably null	Het
Prdm8	C	T	5: 98,333,162 (GRCm39)	P243L	possibly damaging	Het
Prim2	T	C	1: 33,701,373 (GRCm39)	D138G	probably benign	Het
Prl2c5	A	G	13: 13,365,175 (GRCm39)	E107G	probably benign	Het
Prr14l	T	A	5: 32,984,869 (GRCm39)	H1542L	probably damaging	Het
Rab26	T	C	17: 24,749,072 (GRCm39)	E203G	probably damaging	Het
Rtkn2	A	T	10: 67,871,662 (GRCm39)	H350L	possibly damaging	Het
Scara3	T	C	14: 66,175,710 (GRCm39)	D19G	probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059 (GRCm39)	M93V	probably benign	Het
Sema6a	C	A	18: 47,382,231 (GRCm39)	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,584,006 (GRCm39)	K428R	probably benign	Het
Sptbn2	G	A	19: 4,774,674 (GRCm39)	G109D	probably damaging	Het
Tmppe	T	C	9: 114,233,812 (GRCm39)	L37P	probably benign	Het
Tuba1a	T	C	15: 98,849,410 (GRCm39)	T56A	probably benign	Het
Tut4	T	A	4: 108,412,817 (GRCm39)	I1506N	probably damaging	Het
Vmn2r111	A	G	17: 22,792,070 (GRCm39)	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,506,828 (GRCm39)	I828T	probably damaging	Het
Vmn2r79	T	A	7: 86,686,976 (GRCm39)	W786R	probably damaging	Het
Zp1	G	A	19: 10,894,084 (GRCm39)	T405M	probably null	Het

Other mutations in Cd200

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Cd200	APN	16	45,217,409 (GRCm39)	missense	probably damaging	1.00
IGL00583:Cd200	APN	16	45,217,472 (GRCm39)	missense	probably damaging	0.97
IGL01014:Cd200	APN	16	45,215,063 (GRCm39)	missense	probably benign	0.11
IGL01567:Cd200	APN	16	45,215,054 (GRCm39)	missense	probably damaging	1.00
IGL01616:Cd200	APN	16	45,217,419 (GRCm39)	missense	possibly damaging	0.90
R0442:Cd200	UTSW	16	45,217,518 (GRCm39)	missense	probably damaging	1.00
R0667:Cd200	UTSW	16	45,215,220 (GRCm39)	missense	probably benign	0.09
R0675:Cd200	UTSW	16	45,217,473 (GRCm39)	missense	probably benign	0.01
R1163:Cd200	UTSW	16	45,212,715 (GRCm39)	missense	probably damaging	1.00
R1595:Cd200	UTSW	16	45,215,214 (GRCm39)	missense	probably benign	0.16
R4846:Cd200	UTSW	16	45,212,664 (GRCm39)	missense	probably benign	0.16
R4882:Cd200	UTSW	16	45,217,380 (GRCm39)	missense	probably benign	0.15
R5790:Cd200	UTSW	16	45,217,621 (GRCm39)	missense	possibly damaging	0.47
R6523:Cd200	UTSW	16	45,220,633 (GRCm39)	missense	probably benign	0.03
R7175:Cd200	UTSW	16	45,220,578 (GRCm39)	splice site	probably null
R8825:Cd200	UTSW	16	45,215,157 (GRCm39)	missense	probably benign	0.34
R8826:Cd200	UTSW	16	45,215,157 (GRCm39)	missense	probably benign	0.34
R8828:Cd200	UTSW	16	45,215,157 (GRCm39)	missense	probably benign	0.34
X0063:Cd200	UTSW	16	45,215,194 (GRCm39)	makesense	probably null
Z1177:Cd200	UTSW	16	45,215,051 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CCAAACGTGTTGAAGAGACAC -3'
(R):5'- AACAGACACATTTCTCTGCTAGC -3'

Sequencing Primer
(F):5'- TTGAAGAGACACATGTAGCAGCCC -3'
(R):5'- GACACATTTCTCTGCTAGCACATATG -3'

Posted On

2018-04-02