Incidental Mutation 'R5504:Cmklr1'
ID 484517
Institutional Source Beutler Lab
Gene Symbol Cmklr1
Ensembl Gene ENSMUSG00000042190
Gene Name chemerin chemokine-like receptor 1
Synonyms ChemR23, Gpcr27
MMRRC Submission 043065-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R5504 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 113750415-113788487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 113752990 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97468
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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Asphd1 T C 7: 126,545,350 (GRCm39) I336V possibly damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Bsx A T 9: 40,785,460 (GRCm39) probably benign Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Capza3 A T 6: 139,988,165 (GRCm39) I255L probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dock5 T C 14: 68,040,535 (GRCm39) D884G probably benign Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Lgals3bp G T 11: 118,284,811 (GRCm39) T256N probably benign Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign Het
Other mutations in Cmklr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Cmklr1 APN 5 113,752,282 (GRCm39) missense probably benign 0.04
IGL02246:Cmklr1 APN 5 113,752,461 (GRCm39) missense probably benign 0.00
IGL02997:Cmklr1 APN 5 113,752,701 (GRCm39) missense probably benign 0.15
R0098:Cmklr1 UTSW 5 113,752,531 (GRCm39) missense probably benign 0.00
R0360:Cmklr1 UTSW 5 113,752,578 (GRCm39) missense probably damaging 1.00
R0364:Cmklr1 UTSW 5 113,752,578 (GRCm39) missense probably damaging 1.00
R1217:Cmklr1 UTSW 5 113,752,107 (GRCm39) missense probably damaging 1.00
R1702:Cmklr1 UTSW 5 113,751,903 (GRCm39) missense probably benign 0.20
R1862:Cmklr1 UTSW 5 113,752,468 (GRCm39) missense probably damaging 0.96
R4131:Cmklr1 UTSW 5 113,752,545 (GRCm39) missense probably damaging 0.97
R4132:Cmklr1 UTSW 5 113,752,545 (GRCm39) missense probably damaging 0.97
R4611:Cmklr1 UTSW 5 113,752,930 (GRCm39) missense probably benign 0.05
R4647:Cmklr1 UTSW 5 113,752,701 (GRCm39) missense probably damaging 1.00
R5217:Cmklr1 UTSW 5 113,752,710 (GRCm39) missense probably damaging 0.98
R5484:Cmklr1 UTSW 5 113,752,990 (GRCm39) missense possibly damaging 0.65
R5486:Cmklr1 UTSW 5 113,752,990 (GRCm39) missense possibly damaging 0.65
R5487:Cmklr1 UTSW 5 113,752,990 (GRCm39) missense possibly damaging 0.65
R5505:Cmklr1 UTSW 5 113,752,990 (GRCm39) missense possibly damaging 0.65
R6301:Cmklr1 UTSW 5 113,752,999 (GRCm39) start codon destroyed possibly damaging 0.72
R6994:Cmklr1 UTSW 5 113,752,983 (GRCm39) missense probably damaging 1.00
R7342:Cmklr1 UTSW 5 113,752,354 (GRCm39) missense probably benign 0.00
R9034:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9041:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9100:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9101:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9109:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9110:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9111:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9137:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9250:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9298:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9299:Cmklr1 UTSW 5 113,752,043 (GRCm39) missense probably benign
R9516:Cmklr1 UTSW 5 113,752,341 (GRCm39) missense probably benign 0.17
R9521:Cmklr1 UTSW 5 113,752,480 (GRCm39) missense probably benign 0.00
Z1176:Cmklr1 UTSW 5 113,751,952 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAATCACCAGGCCGTTG -3'
(R):5'- TCAGTGAGAGACCCAGTCTTCTC -3'

Sequencing Primer
(F):5'- CGTTGCCTAGGAGACCGAG -3'
(R):5'- CTTGCCTACATGAGCATATGTACACG -3'
Posted On 2017-08-08