Incidental Mutation 'R4647:Cd163'
ID 350366
Institutional Source Beutler Lab
Gene Symbol Cd163
Ensembl Gene ENSMUSG00000008845
Gene Name CD163 antigen
Synonyms
MMRRC Submission 041908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4647 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124281615-124307486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124297580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 909 (P909S)
Ref Sequence ENSEMBL: ENSMUSP00000108160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032234] [ENSMUST00000112541]
AlphaFold Q2VLH6
Predicted Effect probably damaging
Transcript: ENSMUST00000032234
AA Change: P909S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: P909S

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SR 50 150 1.1e-52 SMART
SR 157 258 1.4e-55 SMART
SR 265 365 7.3e-60 SMART
SR 372 472 1.2e-35 SMART
SR 477 577 2.3e-41 SMART
SR 582 682 9.8e-39 SMART
SR 719 819 1.1e-60 SMART
SR 824 927 4e-24 SMART
SR 930 1030 2.3e-55 SMART
transmembrane domain 1046 1068 N/A INTRINSIC
low complexity region 1095 1107 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112541
AA Change: P909S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: P909S

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
SR 50 150 2.26e-50 SMART
SR 157 258 3.11e-53 SMART
SR 265 365 1.54e-57 SMART
SR 372 472 2.64e-33 SMART
SR 477 577 5.03e-39 SMART
SR 582 682 2.09e-36 SMART
SR 719 819 2.38e-58 SMART
SR 824 927 8.93e-22 SMART
SR 930 1030 5.06e-53 SMART
transmembrane domain 1046 1068 N/A INTRINSIC
low complexity region 1095 1107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203210
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: After hindlimb ischemia, mice homozygous for a knock-out allele exhibit increased muscle satellite cell proliferation, and enhanced skeletal muscle regeneration not limited to the site of injury. Knock-out mice also exhibit increased eosinophilic airway inflammation in house dust mite-challenged. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 101,904,515 (GRCm39) N132K possibly damaging Het
Aatf T C 11: 84,362,023 (GRCm39) D313G possibly damaging Het
Abcb11 T G 2: 69,115,615 (GRCm39) D583A probably damaging Het
Adgrv1 A T 13: 81,676,914 (GRCm39) Y1252* probably null Het
Aim2 T C 1: 173,283,090 (GRCm39) silent Het
Angpt1 T A 15: 42,539,580 (GRCm39) Y93F probably benign Het
Ankrd27 C T 7: 35,337,659 (GRCm39) P991L probably benign Het
Ap1s3 C T 1: 79,591,920 (GRCm39) probably null Het
Apbb1 A C 7: 105,214,745 (GRCm39) S500A probably benign Het
Arc G A 15: 74,543,374 (GRCm39) A283V probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
C1galt1c1 A T X: 37,720,349 (GRCm39) S216T probably benign Het
C1qtnf4 T A 2: 90,719,996 (GRCm39) S90T probably damaging Het
Cachd1 A T 4: 100,810,327 (GRCm39) K310* probably null Het
Calhm1 A G 19: 47,132,240 (GRCm39) L125P probably damaging Het
Carmil1 G A 13: 24,321,162 (GRCm39) L278F probably damaging Het
Ccar1 A T 10: 62,583,196 (GRCm39) Y972* probably null Het
Cd44 T A 2: 102,668,274 (GRCm39) H268L possibly damaging Het
Cdkl2 A T 5: 92,165,072 (GRCm39) L517Q probably damaging Het
Cep68 G T 11: 20,189,349 (GRCm39) N554K probably benign Het
Ces1d A G 8: 93,893,038 (GRCm39) W515R probably damaging Het
Clca4b A C 3: 144,634,286 (GRCm39) H102Q probably benign Het
Cldn15 T A 5: 137,003,337 (GRCm39) I142N probably damaging Het
Cmklr1 T A 5: 113,752,701 (GRCm39) D100V probably damaging Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
D430041D05Rik G A 2: 104,088,788 (GRCm39) P63S probably damaging Het
Ddx39a A T 8: 84,448,902 (GRCm39) H259L probably benign Het
Dhx16 C G 17: 36,196,527 (GRCm39) A565G probably benign Het
Dimt1 A T 13: 107,084,163 (GRCm39) D50V probably benign Het
Dock9 A T 14: 121,823,658 (GRCm39) L1428H probably damaging Het
Dpp4 G T 2: 62,164,949 (GRCm39) T700K probably damaging Het
E030030I06Rik T A 10: 22,024,744 (GRCm39) R56S unknown Het
Eea1 A G 10: 95,864,255 (GRCm39) T925A probably benign Het
Ext1 A G 15: 52,953,383 (GRCm39) S494P possibly damaging Het
Fam171a1 G A 2: 3,221,328 (GRCm39) E140K probably damaging Het
Fgfr3 C T 5: 33,892,330 (GRCm39) probably benign Het
Gabra6 A G 11: 42,198,199 (GRCm39) I407T probably damaging Het
Gm16223 C A 5: 42,371,954 (GRCm39) L115M unknown Het
Gm4781 G T 10: 100,232,862 (GRCm39) noncoding transcript Het
Gm9772 T A 17: 22,226,013 (GRCm39) I70F possibly damaging Het
Gpr107 T A 2: 31,100,513 (GRCm39) F497Y probably damaging Het
Grm7 T A 6: 110,891,344 (GRCm39) Y192* probably null Het
Gtf2ird2 G A 5: 134,245,034 (GRCm39) A431T probably damaging Het
H2-K2 T A 17: 34,194,989 (GRCm39) noncoding transcript Het
H2-M11 T A 17: 36,858,883 (GRCm39) V141D probably benign Het
Hmcn1 A G 1: 150,551,262 (GRCm39) probably null Het
Hmcn2 A T 2: 31,289,031 (GRCm39) Q2280L possibly damaging Het
Hmg20b T A 10: 81,184,416 (GRCm39) Q129L probably damaging Het
Igfbp7 T A 5: 77,499,143 (GRCm39) Q285L possibly damaging Het
Igkv13-85 T A 6: 68,907,720 (GRCm39) probably benign Het
Inpp5e A T 2: 26,297,926 (GRCm39) L225H probably benign Het
Inpp5f T A 7: 128,260,833 (GRCm39) V91E possibly damaging Het
Khdc3 A G 9: 73,009,868 (GRCm39) E26G possibly damaging Het
Klra5 T A 6: 129,876,339 (GRCm39) D156V probably damaging Het
Kmo C A 1: 175,487,340 (GRCm39) Y430* probably null Het
Lbx2 A G 6: 83,065,027 (GRCm39) D188G probably damaging Het
Lcorl A T 5: 45,890,931 (GRCm39) L474* probably null Het
Lnx1 C T 5: 74,771,457 (GRCm39) V350I probably benign Het
Lrrc45 T A 11: 120,609,947 (GRCm39) S464T probably benign Het
Ltc4s T A 11: 50,128,052 (GRCm39) T61S probably benign Het
Luc7l3 A C 11: 94,200,467 (GRCm39) N50K probably damaging Het
Ly75 G A 2: 60,138,622 (GRCm39) T1415M probably damaging Het
Macf1 T C 4: 123,367,420 (GRCm39) E2447G probably benign Het
Map3k21 A G 8: 126,668,850 (GRCm39) D812G probably benign Het
Mbtd1 C T 11: 93,815,437 (GRCm39) H342Y probably damaging Het
Mest C T 6: 30,745,109 (GRCm39) R226* probably null Het
Mindy1 A T 3: 95,190,054 (GRCm39) probably benign Het
Mmp13 A T 9: 7,274,233 (GRCm39) D180V probably damaging Het
Mn1 A G 5: 111,567,949 (GRCm39) T640A probably benign Het
Msi2 T C 11: 88,608,864 (GRCm39) H18R possibly damaging Het
Myo18a T A 11: 77,708,776 (GRCm39) V61E probably damaging Het
Myo19 T G 11: 84,785,468 (GRCm39) I237S probably damaging Het
Ncaph2 T A 15: 89,254,635 (GRCm39) L416Q probably damaging Het
Nlrp1a T A 11: 70,987,952 (GRCm39) probably null Het
Or1n1b A G 2: 36,780,663 (GRCm39) F66L probably benign Het
Or2d4 A T 7: 106,543,547 (GRCm39) N220K probably benign Het
Or51a25 A G 7: 102,373,299 (GRCm39) S133P probably damaging Het
Or5b98 A G 19: 12,931,441 (GRCm39) I163V probably benign Het
Or8s10 G T 15: 98,335,457 (GRCm39) V36F probably benign Het
Padi2 T C 4: 140,671,757 (GRCm39) F495S probably damaging Het
Pan3 G T 5: 147,464,013 (GRCm39) D535Y probably damaging Het
Paqr3 T A 5: 97,256,069 (GRCm39) R102* probably null Het
Patl1 T A 19: 11,891,798 (GRCm39) D34E probably damaging Het
Pcdha6 A T 18: 37,102,189 (GRCm39) T461S probably damaging Het
Pcnt T C 10: 76,190,047 (GRCm39) S2830G probably benign Het
Pdgfa G A 5: 138,964,939 (GRCm39) T181I probably benign Het
Pds5a C A 5: 65,813,661 (GRCm39) D275Y probably damaging Het
Plod2 T A 9: 92,487,503 (GRCm39) Y607* probably null Het
Pomt2 G T 12: 87,164,857 (GRCm39) T517K possibly damaging Het
Pramel23 T C 4: 143,425,914 (GRCm39) M10V probably benign Het
Prdm1 T C 10: 44,315,686 (GRCm39) T817A probably damaging Het
Prdm2 T C 4: 142,859,525 (GRCm39) D1255G possibly damaging Het
Prex2 T A 1: 11,232,509 (GRCm39) C859S probably damaging Het
Ralgapa2 A T 2: 146,229,549 (GRCm39) M1077K possibly damaging Het
Ralgds T C 2: 28,435,532 (GRCm39) probably null Het
Rasa3 T C 8: 13,638,865 (GRCm39) E314G probably null Het
Rasa4 T A 5: 136,130,217 (GRCm39) D324E probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rnf139 A T 15: 58,771,836 (GRCm39) L620F probably benign Het
Rptor T A 11: 119,781,989 (GRCm39) N1105K probably benign Het
Scaf11 A T 15: 96,317,981 (GRCm39) probably null Het
Sectm1b A T 11: 120,946,760 (GRCm39) V45E probably damaging Het
Selenon A G 4: 134,272,968 (GRCm39) W157R probably damaging Het
Sema3b C A 9: 107,476,250 (GRCm39) R657L possibly damaging Het
Setd1b C T 5: 123,286,175 (GRCm39) A407V unknown Het
Sh3tc1 C T 5: 35,863,662 (GRCm39) A842T probably damaging Het
Shank2 A G 7: 143,965,566 (GRCm39) E1268G probably damaging Het
Shmt1 G A 11: 60,692,291 (GRCm39) S155F probably damaging Het
Sim2 A G 16: 93,924,385 (GRCm39) E510G possibly damaging Het
Slc25a46 A T 18: 31,733,245 (GRCm39) I168N probably damaging Het
Slc26a4 T G 12: 31,590,525 (GRCm39) D376A possibly damaging Het
Slfn14 G T 11: 83,167,484 (GRCm39) A677E probably benign Het
Slk G T 19: 47,608,713 (GRCm39) Q555H possibly damaging Het
Synj1 A T 16: 90,770,877 (GRCm39) D517E probably damaging Het
Syvn1 G A 19: 6,101,504 (GRCm39) R440Q probably benign Het
Tafa5 T G 15: 87,604,783 (GRCm39) S115A probably damaging Het
Tas2r118 A T 6: 23,969,467 (GRCm39) I198N probably damaging Het
Tdh A G 14: 63,731,205 (GRCm39) L323P possibly damaging Het
Tet2 A T 3: 133,193,843 (GRCm39) M197K probably benign Het
Timeless A G 10: 128,075,825 (GRCm39) Y19C possibly damaging Het
Tnn T C 1: 159,973,612 (GRCm39) M252V probably benign Het
Trdn G T 10: 33,071,977 (GRCm39) E215* probably null Het
Trmt1l G T 1: 151,333,632 (GRCm39) V712F possibly damaging Het
Tti1 T C 2: 157,848,940 (GRCm39) probably benign Het
Ulk4 T C 9: 120,970,918 (GRCm39) H1018R probably benign Het
Vim A T 2: 13,587,306 (GRCm39) H461L probably benign Het
Vmn2r118 T A 17: 55,917,665 (GRCm39) E282D probably damaging Het
Vmn2r31 T A 7: 7,387,367 (GRCm39) I735F probably damaging Het
Vmn2r88 A G 14: 51,656,250 (GRCm39) M829V probably benign Het
Washc4 T A 10: 83,410,407 (GRCm39) M665K possibly damaging Het
Wbp2 T A 11: 115,973,207 (GRCm39) M67L probably benign Het
Wdr81 T A 11: 75,336,814 (GRCm39) E1525V probably damaging Het
Xbp1 A G 11: 5,472,006 (GRCm39) D44G probably damaging Het
Zfhx4 T G 3: 5,464,341 (GRCm39) F1500V probably damaging Het
Zfp286 A C 11: 62,674,559 (GRCm39) Y95* probably null Het
Zfp872 A G 9: 22,111,057 (GRCm39) T178A possibly damaging Het
Zkscan5 A G 5: 145,155,640 (GRCm39) H364R possibly damaging Het
Zp3r A T 1: 130,505,697 (GRCm39) Y422N probably damaging Het
Zscan10 C T 17: 23,829,314 (GRCm39) R542C probably benign Het
Other mutations in Cd163
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Cd163 APN 6 124,306,060 (GRCm39) splice site probably benign
IGL00755:Cd163 APN 6 124,295,616 (GRCm39) missense possibly damaging 0.70
IGL01690:Cd163 APN 6 124,284,277 (GRCm39) missense possibly damaging 0.89
IGL02101:Cd163 APN 6 124,284,246 (GRCm39) nonsense probably null
IGL02733:Cd163 APN 6 124,302,300 (GRCm39) missense probably damaging 1.00
IGL02801:Cd163 APN 6 124,297,488 (GRCm39) missense probably benign 0.00
IGL02897:Cd163 APN 6 124,302,486 (GRCm39) missense probably damaging 1.00
IGL03074:Cd163 APN 6 124,294,945 (GRCm39) missense probably benign 0.00
IGL03283:Cd163 APN 6 124,286,158 (GRCm39) missense possibly damaging 0.49
compass UTSW 6 124,306,045 (GRCm39) makesense probably null
hottish UTSW 6 124,286,167 (GRCm39) missense probably damaging 1.00
protractor UTSW 6 124,288,525 (GRCm39) missense probably damaging 1.00
t-square UTSW 6 124,302,247 (GRCm39) missense probably damaging 0.97
R0494:Cd163 UTSW 6 124,288,408 (GRCm39) missense probably damaging 1.00
R0554:Cd163 UTSW 6 124,289,619 (GRCm39) missense probably benign 0.03
R0622:Cd163 UTSW 6 124,294,311 (GRCm39) missense probably damaging 1.00
R1004:Cd163 UTSW 6 124,302,306 (GRCm39) missense probably damaging 1.00
R1061:Cd163 UTSW 6 124,286,128 (GRCm39) missense probably benign 0.00
R1132:Cd163 UTSW 6 124,286,055 (GRCm39) nonsense probably null
R1195:Cd163 UTSW 6 124,302,209 (GRCm39) splice site probably benign
R1195:Cd163 UTSW 6 124,302,209 (GRCm39) splice site probably benign
R1436:Cd163 UTSW 6 124,304,890 (GRCm39) missense possibly damaging 0.47
R1463:Cd163 UTSW 6 124,288,406 (GRCm39) missense probably damaging 1.00
R1532:Cd163 UTSW 6 124,289,689 (GRCm39) missense possibly damaging 0.91
R1541:Cd163 UTSW 6 124,304,920 (GRCm39) missense probably benign
R1654:Cd163 UTSW 6 124,294,540 (GRCm39) missense probably damaging 1.00
R1717:Cd163 UTSW 6 124,306,547 (GRCm39) utr 3 prime probably benign
R1744:Cd163 UTSW 6 124,283,987 (GRCm39) missense possibly damaging 0.94
R2014:Cd163 UTSW 6 124,302,457 (GRCm39) missense probably damaging 0.99
R2035:Cd163 UTSW 6 124,297,588 (GRCm39) missense probably damaging 0.97
R2095:Cd163 UTSW 6 124,294,781 (GRCm39) missense probably damaging 1.00
R2124:Cd163 UTSW 6 124,295,815 (GRCm39) missense probably damaging 1.00
R2146:Cd163 UTSW 6 124,286,167 (GRCm39) missense probably damaging 1.00
R2353:Cd163 UTSW 6 124,296,115 (GRCm39) nonsense probably null
R3854:Cd163 UTSW 6 124,288,525 (GRCm39) missense probably damaging 1.00
R4425:Cd163 UTSW 6 124,304,862 (GRCm39) missense possibly damaging 0.94
R4631:Cd163 UTSW 6 124,306,045 (GRCm39) makesense probably null
R4713:Cd163 UTSW 6 124,294,577 (GRCm39) critical splice donor site probably null
R4803:Cd163 UTSW 6 124,289,389 (GRCm39) missense probably damaging 0.99
R4996:Cd163 UTSW 6 124,296,106 (GRCm39) missense probably benign 0.00
R5022:Cd163 UTSW 6 124,302,247 (GRCm39) missense probably damaging 0.97
R5023:Cd163 UTSW 6 124,302,247 (GRCm39) missense probably damaging 0.97
R5032:Cd163 UTSW 6 124,288,628 (GRCm39) missense probably damaging 1.00
R5057:Cd163 UTSW 6 124,302,247 (GRCm39) missense probably damaging 0.97
R5121:Cd163 UTSW 6 124,294,948 (GRCm39) missense probably damaging 1.00
R5436:Cd163 UTSW 6 124,304,923 (GRCm39) missense probably benign
R5453:Cd163 UTSW 6 124,289,500 (GRCm39) missense probably damaging 1.00
R5723:Cd163 UTSW 6 124,296,022 (GRCm39) missense probably benign 0.00
R5929:Cd163 UTSW 6 124,303,568 (GRCm39) critical splice donor site probably null
R5943:Cd163 UTSW 6 124,306,561 (GRCm39) makesense probably null
R5964:Cd163 UTSW 6 124,303,531 (GRCm39) missense probably benign 0.01
R5966:Cd163 UTSW 6 124,297,595 (GRCm39) nonsense probably null
R6279:Cd163 UTSW 6 124,294,950 (GRCm39) nonsense probably null
R6300:Cd163 UTSW 6 124,294,950 (GRCm39) nonsense probably null
R6499:Cd163 UTSW 6 124,281,703 (GRCm39) missense probably benign 0.00
R6602:Cd163 UTSW 6 124,288,594 (GRCm39) missense probably damaging 1.00
R6708:Cd163 UTSW 6 124,286,167 (GRCm39) missense probably damaging 1.00
R6767:Cd163 UTSW 6 124,281,738 (GRCm39) missense possibly damaging 0.56
R6979:Cd163 UTSW 6 124,294,945 (GRCm39) missense probably benign 0.00
R6993:Cd163 UTSW 6 124,294,673 (GRCm39) missense probably damaging 1.00
R7345:Cd163 UTSW 6 124,295,897 (GRCm39) missense possibly damaging 0.52
R7382:Cd163 UTSW 6 124,288,271 (GRCm39) splice site probably null
R7552:Cd163 UTSW 6 124,284,187 (GRCm39) missense probably benign 0.08
R7829:Cd163 UTSW 6 124,281,738 (GRCm39) missense probably benign 0.04
R8354:Cd163 UTSW 6 124,305,924 (GRCm39) missense probably benign 0.43
R8454:Cd163 UTSW 6 124,305,924 (GRCm39) missense probably benign 0.43
R8530:Cd163 UTSW 6 124,295,860 (GRCm39) missense probably damaging 1.00
R8560:Cd163 UTSW 6 124,294,360 (GRCm39) missense possibly damaging 0.86
R8878:Cd163 UTSW 6 124,297,469 (GRCm39) missense probably damaging 0.99
R8930:Cd163 UTSW 6 124,294,882 (GRCm39) missense probably damaging 1.00
R8932:Cd163 UTSW 6 124,294,882 (GRCm39) missense probably damaging 1.00
R9074:Cd163 UTSW 6 124,285,947 (GRCm39) nonsense probably null
R9408:Cd163 UTSW 6 124,297,497 (GRCm39) missense probably benign 0.39
R9530:Cd163 UTSW 6 124,294,491 (GRCm39) nonsense probably null
R9558:Cd163 UTSW 6 124,297,471 (GRCm39) missense probably benign 0.01
R9608:Cd163 UTSW 6 124,286,163 (GRCm39) missense possibly damaging 0.79
R9685:Cd163 UTSW 6 124,288,384 (GRCm39) missense possibly damaging 0.77
Z1177:Cd163 UTSW 6 124,294,344 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- CAGTAGCAATATGTCTCCAACCACTG -3'
(R):5'- GCCCTGGAACATCTTAAAGTTTATG -3'

Sequencing Primer
(F):5'- AATATGTCTCCAACCACTGTGGGG -3'
(R):5'- TTAGGGCCACAGCTAAAC -3'
Posted On 2015-10-08