Mutagenetix > Incidental Mutations

Incidental Mutation 'R4132:Cmklr1'

314701

Institutional Source

Beutler Lab

Gene Symbol

Cmklr1

Ensembl Gene

ENSMUSG00000042190

Gene Name

chemokine-like receptor 1

Synonyms

ChemR23, Gpcr27

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R4132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113612354-113650426 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113614484 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 152 (R152L)

Ref Sequence

ENSEMBL: ENSMUSP00000121765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047936] [ENSMUST00000132065] [ENSMUST00000142854]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047936
AA Change: R152L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036316
Gene: ENSMUSG00000042190
AA Change: R152L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	314	2.6e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132065
AA Change: R152L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121765
Gene: ENSMUSG00000042190
AA Change: R152L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	301	5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142854

Meta Mutation Damage Score

0.4712

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice have defects in immunomodulation of monocyte and neutriphils by chemerin [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy1	T	C	1: 92,885,100	M496V	probably benign	Het
Ankrd29	G	A	18: 12,254,700	A275V	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Gm1527	A	T	3: 28,920,630	I531L	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Heca	A	G	10: 17,902,239	S537P	probably damaging	Het
Icam5	T	C	9: 21,036,657	I617T	probably benign	Het
Itgb2l	A	G	16: 96,437,389	L70P	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klhdc4	C	T	8: 121,798,065	G375R	possibly damaging	Het
Myo5c	G	A	9: 75,252,568	V293I	probably benign	Het
Ncbp1	C	T	4: 46,169,241	R672*	probably null	Het
Pcdhga2	T	C	18: 37,670,054	I317T	possibly damaging	Het
Safb	C	A	17: 56,600,848		probably benign	Het
Tspan5	C	T	3: 138,896,867	R106*	probably null	Het
Ubap2l	A	G	3: 90,009,184	Y908H	probably damaging	Het
Uspl1	A	G	5: 149,204,349	N372S	probably damaging	Het
Vmn1r210	T	C	13: 22,827,649	I156V	probably benign	Het
Zbtb8os	A	G	4: 129,336,113	Y24C	probably damaging	Het

Other mutations in Cmklr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Cmklr1	APN	5	113614221	missense	probably benign	0.04
IGL02246:Cmklr1	APN	5	113614400	missense	probably benign	0.00
IGL02997:Cmklr1	APN	5	113614640	missense	probably benign	0.15
R0098:Cmklr1	UTSW	5	113614470	missense	probably benign	0.00
R0360:Cmklr1	UTSW	5	113614517	missense	probably damaging	1.00
R0364:Cmklr1	UTSW	5	113614517	missense	probably damaging	1.00
R1217:Cmklr1	UTSW	5	113614046	missense	probably damaging	1.00
R1702:Cmklr1	UTSW	5	113613842	missense	probably benign	0.20
R1862:Cmklr1	UTSW	5	113614407	missense	probably damaging	0.96
R4131:Cmklr1	UTSW	5	113614484	missense	probably damaging	0.97
R4611:Cmklr1	UTSW	5	113614869	missense	probably benign	0.05
R4647:Cmklr1	UTSW	5	113614640	missense	probably damaging	1.00
R5217:Cmklr1	UTSW	5	113614649	missense	probably damaging	0.98
R5484:Cmklr1	UTSW	5	113614929	missense	possibly damaging	0.65
R5486:Cmklr1	UTSW	5	113614929	missense	possibly damaging	0.65
R5487:Cmklr1	UTSW	5	113614929	missense	possibly damaging	0.65
R5504:Cmklr1	UTSW	5	113614929	missense	possibly damaging	0.65
R5505:Cmklr1	UTSW	5	113614929	missense	possibly damaging	0.65
R6301:Cmklr1	UTSW	5	113614938	start codon destroyed	possibly damaging	0.72
R6994:Cmklr1	UTSW	5	113614922	missense	probably damaging	1.00
R7342:Cmklr1	UTSW	5	113614293	missense	probably benign	0.00
Z1176:Cmklr1	UTSW	5	113613891	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGAAACTACTTGCGAGTGG -3'
(R):5'- TTTGTCAACCTGGCTGTGGC -3'

Sequencing Primer
(F):5'- ACTTGCGAGTGGGCGGG -3'
(R):5'- GATGCACATCACCTACGCGG -3'

Posted On

2015-05-14