Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Cmklr2'

33646

Institutional Source

Beutler Lab

Gene Symbol

Cmklr2

Ensembl Gene

ENSMUSG00000046856

Gene Name

chemerin chemokine-like receptor 2

Synonyms

Gpr1

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63221850-63253702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63222690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 182 (N182Y)

Ref Sequence

ENSEMBL: ENSMUSP00000051417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027108] [ENSMUST00000050536] [ENSMUST00000129339] [ENSMUST00000135877] [ENSMUST00000188524] [ENSMUST00000174890] [ENSMUST00000142062]

AlphaFold

Q8K087

Predicted Effect

probably benign
Transcript: ENSMUST00000027108

Predicted Effect

probably benign
Transcript: ENSMUST00000050536
AA Change: N182Y

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
AA Change: N182Y

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	302	3.9e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082678

Predicted Effect

probably benign
Transcript: ENSMUST00000126795

SMART Domains

Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
SCOP:d1aw9_1	4	62	8e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129339

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
EF-1_beta_acid	103	130	2.53e-4	SMART
EF1_GNE	139	225	3.86e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135877

SMART Domains

Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199062

Predicted Effect

probably benign
Transcript: ENSMUST00000188524

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
EF-1_beta_acid	62	89	1.2e-8	SMART
EF1_GNE	98	184	2.9e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174890

SMART Domains

Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
Blast:WHEP	3	64	3e-6	BLAST
SCOP:d1aw9_1	7	65	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142062

Meta Mutation Damage Score

0.1771

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,183,941 (GRCm39)	L181*	probably null	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,929,398 (GRCm39)	M425K	probably benign	Het
Mael	C	T	1: 166,066,159 (GRCm39)	G26D	probably damaging	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,312 (GRCm39)	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Cmklr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Cmklr2	APN	1	63,222,497 (GRCm39)	missense	probably damaging	0.99
IGL01086:Cmklr2	APN	1	63,222,650 (GRCm39)	missense	probably benign	0.01
IGL01490:Cmklr2	APN	1	63,222,455 (GRCm39)	missense	probably damaging	0.99
IGL02409:Cmklr2	APN	1	63,222,875 (GRCm39)	missense	probably damaging	1.00
IGL02426:Cmklr2	APN	1	63,222,827 (GRCm39)	missense	probably damaging	0.97
R2088:Cmklr2	UTSW	1	63,222,811 (GRCm39)	splice site	probably null
R2166:Cmklr2	UTSW	1	63,223,107 (GRCm39)	missense	probably benign
R2895:Cmklr2	UTSW	1	63,222,321 (GRCm39)	missense	probably benign	0.24
R2896:Cmklr2	UTSW	1	63,222,321 (GRCm39)	missense	probably benign	0.24
R5102:Cmklr2	UTSW	1	63,222,326 (GRCm39)	missense	probably damaging	0.99
R5131:Cmklr2	UTSW	1	63,222,840 (GRCm39)	missense	probably damaging	1.00
R5471:Cmklr2	UTSW	1	63,223,058 (GRCm39)	missense	probably damaging	1.00
R5652:Cmklr2	UTSW	1	63,222,626 (GRCm39)	missense	probably benign	0.00
R6187:Cmklr2	UTSW	1	63,222,434 (GRCm39)	missense	probably damaging	1.00
R7956:Cmklr2	UTSW	1	63,222,665 (GRCm39)	missense	probably damaging	0.99
R8953:Cmklr2	UTSW	1	63,222,272 (GRCm39)	missense	probably damaging	1.00
R9031:Cmklr2	UTSW	1	63,223,145 (GRCm39)	missense	probably benign	0.03
X0060:Cmklr2	UTSW	1	63,222,218 (GRCm39)	missense	probably benign	0.02
Z1177:Cmklr2	UTSW	1	63,222,798 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACCACAGACAGGATCATCCAGAG -3'
(R):5'- ACGTGGCCTTGAGTTTCCACTG -3'

Sequencing Primer
(F):5'- CAGGATCATCCAGAGATGCTTTC -3'
(R):5'- GGCTCTGCAAGGTTAATTCC -3'

Posted On

2013-05-09