Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02492:Cd200r2'

295687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd200r2

Ensembl Gene

ENSMUSG00000090176

Gene Name

Cd200 receptor 2

Synonyms

CD200 cell surface glycoprotein receptor isoform 2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02492

Quality Score

Status

Chromosome

Chromosomal Location

44687460-44736203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44729903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 149 (K149R)

Ref Sequence

ENSEMBL: ENSMUSP00000099869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102805]

AlphaFold

Q6XJV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000102805
AA Change: K149R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099869
Gene: ENSMUSG00000090176
AA Change: K149R

Domain	Start	End	E-Value	Type
IG	23	126	1.06e-2	SMART
IG_like	128	249	1.85e2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	A	G	9: 53,367,159 (GRCm39)	L2482P	probably damaging	Het
Bcl11b	T	C	12: 107,881,945 (GRCm39)	Y718C	probably damaging	Het
Bltp1	A	G	3: 37,102,262 (GRCm39)	E1320G	probably benign	Het
Ccrl2	A	G	9: 110,884,871 (GRCm39)	I209T	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col18a1	A	G	10: 76,907,855 (GRCm39)		probably benign	Het
Cops5	T	A	1: 10,097,377 (GRCm39)	T291S	probably benign	Het
Csmd1	C	A	8: 16,052,597 (GRCm39)	V2176F	probably benign	Het
Ctse	C	A	1: 131,595,972 (GRCm39)	S221R	probably damaging	Het
Cxcl3	A	G	5: 90,934,199 (GRCm39)		probably null	Het
Cyp51	C	T	5: 4,154,304 (GRCm39)	V2I	probably benign	Het
Dennd5a	A	G	7: 109,532,844 (GRCm39)	F285L	probably benign	Het
Dst	T	G	1: 34,191,274 (GRCm39)		probably benign	Het
Frzb	A	T	2: 80,254,935 (GRCm39)		probably benign	Het
Gm5070	A	T	3: 95,318,354 (GRCm39)		noncoding transcript	Het
Gm9637	A	G	14: 19,402,182 (GRCm38)		noncoding transcript	Het
Grip1	A	G	10: 119,765,945 (GRCm39)		probably benign	Het
Itga4	C	T	2: 79,086,001 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,856,439 (GRCm39)	I675N	probably damaging	Het
Or4n4b	T	G	14: 50,536,060 (GRCm39)	K235N	probably damaging	Het
Pcdhb20	G	T	18: 37,639,453 (GRCm39)	V660L	probably benign	Het
Prex2	T	G	1: 11,194,069 (GRCm39)	L484R	possibly damaging	Het
Prkg1	A	T	19: 30,701,602 (GRCm39)	V305D	probably damaging	Het
Rab44	A	G	17: 29,365,023 (GRCm39)		probably benign	Het
Smpd4	C	T	16: 17,457,215 (GRCm39)	A391V	probably damaging	Het
Smyd4	T	C	11: 75,294,252 (GRCm39)	L711P	probably benign	Het
Spag16	T	G	1: 69,926,688 (GRCm39)	M261R	probably benign	Het
Steap1	A	G	5: 5,790,561 (GRCm39)	V129A	possibly damaging	Het
Tbcd	A	T	11: 121,387,960 (GRCm39)	I364L	probably benign	Het
Trmt13	C	T	3: 116,376,192 (GRCm39)	D400N	possibly damaging	Het
Vps13a	A	G	19: 16,625,001 (GRCm39)	S2753P	probably damaging	Het
Xirp2	T	G	2: 67,346,511 (GRCm39)	S2917R	probably damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	Het

Other mutations in Cd200r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Cd200r2	APN	16	44,729,651 (GRCm39)	missense	probably damaging	1.00
IGL01019:Cd200r2	APN	16	44,729,832 (GRCm39)	splice site	probably benign
IGL01480:Cd200r2	APN	16	44,729,629 (GRCm39)	missense	probably null	1.00
IGL01510:Cd200r2	APN	16	44,729,674 (GRCm39)	missense	probably benign	0.03
IGL02202:Cd200r2	APN	16	44,729,723 (GRCm39)	missense	probably damaging	1.00
IGL02499:Cd200r2	APN	16	44,734,948 (GRCm39)	missense	possibly damaging	0.47
R0066:Cd200r2	UTSW	16	44,730,037 (GRCm39)	missense	possibly damaging	0.94
R0066:Cd200r2	UTSW	16	44,730,037 (GRCm39)	missense	possibly damaging	0.94
R0503:Cd200r2	UTSW	16	44,698,325 (GRCm39)	start codon destroyed	probably null	0.93
R0526:Cd200r2	UTSW	16	44,735,410 (GRCm39)	missense	probably damaging	1.00
R1118:Cd200r2	UTSW	16	44,729,969 (GRCm39)	missense	probably damaging	1.00
R1119:Cd200r2	UTSW	16	44,729,969 (GRCm39)	missense	probably damaging	1.00
R2393:Cd200r2	UTSW	16	44,729,630 (GRCm39)	missense	probably damaging	1.00
R5450:Cd200r2	UTSW	16	44,729,934 (GRCm39)	missense	probably benign	0.04
R7466:Cd200r2	UTSW	16	44,729,537 (GRCm39)	missense	probably damaging	0.97
R9762:Cd200r2	UTSW	16	44,729,420 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16