Incidental Mutation 'R5487:Cmklr1'
ID501057
Institutional Source Beutler Lab
Gene Symbol Cmklr1
Ensembl Gene ENSMUSG00000042190
Gene Namechemokine-like receptor 1
SynonymsChemR23, Gpcr27
MMRRC Submission 043048-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.244) question?
Stock #R5487 (G1)
Quality Score187
Status Not validated
Chromosome5
Chromosomal Location113612354-113650426 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 113614929 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Histidine at position 4 (D4H)
Ref Sequence ENSEMBL: ENSMUSP00000115784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047936] [ENSMUST00000132065] [ENSMUST00000142854]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047936
AA Change: D4H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036316
Gene: ENSMUSG00000042190
AA Change: D4H

DomainStartEndE-ValueType
Pfam:7tm_1 55 314 2.6e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132065
AA Change: D4H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121765
Gene: ENSMUSG00000042190
AA Change: D4H

DomainStartEndE-ValueType
Pfam:7tm_1 55 301 5e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142854
AA Change: D4H

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,953,514 V959A probably damaging Het
AI314180 T C 4: 58,809,421 D1651G probably benign Het
Alg3 A T 16: 20,607,780 I115N probably damaging Het
Ash1l A G 3: 88,981,426 D204G probably benign Het
Camta1 C A 4: 151,144,754 E540D possibly damaging Het
Cblc T C 7: 19,784,808 T413A probably benign Het
Ccdc122 T A 14: 77,091,679 H57Q probably benign Het
Ccdc85a A T 11: 28,576,768 L280* probably null Het
Cd46 T G 1: 195,068,170 probably null Het
Dnaaf3 T C 7: 4,523,865 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Eif2ak1 A G 5: 143,897,163 probably null Het
Erich4 A G 7: 25,615,239 M83T probably benign Het
Fbxo24 C T 5: 137,618,832 G331E possibly damaging Het
Fzd4 A G 7: 89,407,407 I221V probably benign Het
G6pc2 T C 2: 69,226,577 V189A probably damaging Het
Gm10663 A C 8: 65,075,034 E1A probably null Het
Gm4871 C A 5: 145,030,389 E178D probably damaging Het
Igdcc3 A G 9: 65,181,584 E415G probably damaging Het
Kmt2a A T 9: 44,821,975 probably benign Het
Krba1 T C 6: 48,404,039 V103A probably damaging Het
Lcat T C 8: 105,939,664 K409E probably benign Het
Lrriq4 C A 3: 30,659,995 N497K probably benign Het
Mical2 A G 7: 112,320,635 T451A probably damaging Het
Noxo1 C T 17: 24,698,317 probably benign Het
Oas1a A G 5: 120,907,427 I17T probably damaging Het
Otog A T 7: 46,288,768 Y1967F probably benign Het
Pcdha9 A T 18: 36,999,650 N591Y probably damaging Het
Plxna4 A G 6: 32,517,283 Y133H probably damaging Het
Pou5f2 T C 13: 78,024,999 L20P probably benign Het
Prkcb T A 7: 122,600,725 C586* probably null Het
Sema3b A T 9: 107,600,962 M408K probably damaging Het
Serpinf2 G A 11: 75,433,205 T332I probably damaging Het
Tmbim1 A G 1: 74,293,005 V121A probably benign Het
Tph2 C T 10: 115,119,874 G338D probably damaging Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 102,095,213 probably null Het
Ttn C T 2: 76,812,552 V13247M probably damaging Het
Uty C T Y: 1,174,825 G192R probably damaging Het
Vmn2r65 G T 7: 84,946,321 P385Q possibly damaging Het
Wdfy3 G A 5: 101,836,274 R3489W probably damaging Het
Zfp750 A G 11: 121,513,732 S106P probably benign Het
Other mutations in Cmklr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 not run
Predicted Primers PCR Primer
(F):5'- TGGCGATGACAATCACCAGG -3'
(R):5'- AGAGACCCAGTCTTCTCTGAC -3'

Sequencing Primer
(F):5'- GATGACAATCACCAGGCCGTTG -3'
(R):5'- CTTGCCTACATGAGCATATGTACACG -3'
Posted On2017-12-01