Mutagenetix > Incidental Mutations

Incidental Mutation 'R1217:Cmklr1'

99727

Institutional Source

Beutler Lab

Gene Symbol

Cmklr1

Ensembl Gene

ENSMUSG00000042190

Gene Name

chemokine-like receptor 1

Synonyms

ChemR23, Gpcr27

MMRRC Submission

039286-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R1217 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

113612354-113650426 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113614046 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 298 (L298Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121765 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000047936
AA Change: L298Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036316
Gene: ENSMUSG00000042190
AA Change: L298Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132065
AA Change: L298Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121765
Gene: ENSMUSG00000042190
AA Change: L298Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142854

Meta Mutation Damage Score

0.7156

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.6%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	A	T	10: 75,333,215	Y171F	probably damaging	Het
Agpat4	C	T	17: 12,210,316	R152W	probably damaging	Het
Aldh1a2	A	G	9: 71,281,682	N293D	possibly damaging	Het
Ash2l	T	C	8: 25,822,885	N441S	probably damaging	Het
Asrgl1	A	T	19: 9,116,500		probably null	Het
Capn3	C	A	2: 120,486,421	S277*	probably null	Het
Ccdc114	C	T	7: 45,942,758		probably benign	Het
Ccp110	T	C	7: 118,729,944		probably benign	Het
Cdh17	T	C	4: 11,799,676	V491A	probably benign	Het
Cep170b	T	C	12: 112,740,905	S362P	probably damaging	Het
Cfap57	A	G	4: 118,606,652	S335P	possibly damaging	Het
Col4a4	A	T	1: 82,489,009		probably null	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Cyp2d26	A	G	15: 82,792,867		probably benign	Het
Cyth3	T	C	5: 143,702,820	Y240H	probably damaging	Het
Dhx9	G	A	1: 153,458,363	T1017I	probably damaging	Het
Edar	T	C	10: 58,628,631	Y62C	probably damaging	Het
Esyt3	C	T	9: 99,318,044	G699D	possibly damaging	Het
Fgb	T	C	3: 83,043,257	T397A	probably damaging	Het
Foxc1	C	A	13: 31,808,685	A493E	unknown	Het
Gm8251	A	T	1: 44,057,179	S1586R	possibly damaging	Het
Grid1	T	C	14: 34,820,229	M1T	probably null	Het
Ipo4	T	C	14: 55,634,359	K113R	probably damaging	Het
Kif21b	A	G	1: 136,152,376	E550G	probably damaging	Het
Krt1	T	C	15: 101,848,981	K265E	possibly damaging	Het
Lmx1a	G	A	1: 167,791,399	R109H	probably damaging	Het
Mcm5	A	G	8: 75,126,291	K677R	probably benign	Het
Metap1	A	T	3: 138,475,030	L130*	probably null	Het
Mrgpra4	A	G	7: 47,981,337	L172P	probably benign	Het
Mylip	G	A	13: 45,406,702	E205K	probably damaging	Het
Myo3b	A	C	2: 70,330,880	E1128A	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nlrp4d	T	C	7: 10,364,267	I823V	probably benign	Het
Rec114	A	T	9: 58,665,820		probably benign	Het
Rimbp2	C	T	5: 128,788,287	A666T	probably benign	Het
Siva1	C	T	12: 112,646,921	Q68*	probably null	Het
Slc22a27	T	A	19: 7,926,668	I35F	probably benign	Het
Slco1a5	T	A	6: 142,254,374	N228I	probably damaging	Het
St8sia4	G	A	1: 95,653,739	R93C	probably damaging	Het
Tprg	T	C	16: 25,412,843	S190P	probably damaging	Het
Trpc6	A	G	9: 8,658,286		probably null	Het
Vmn2r70	C	T	7: 85,559,061	C736Y	probably damaging	Het
Zfp629	C	T	7: 127,612,744		probably benign	Het
Zswim4	A	G	8: 84,219,972	V685A	possibly 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
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
R4132: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'- ACCGAAGCCTTCTCATTCAAAGACG -3'
(R):5'- GTTTCCACAGGGTACAGCAGACAC -3'

Sequencing Primer
(F):5'- ACGACATCTTGGTGAAGCTC -3'
(R):5'- ATCATCACGGCCTGCTAC -3'

Posted On

2014-01-15