Incidental Mutation 'R4803:Cd163'
ID 370462
Institutional Source Beutler Lab
Gene Symbol Cd163
Ensembl Gene ENSMUSG00000008845
Gene Name CD163 antigen
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4803 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124281615-124307486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124289389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 369 (D369G)
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: D369G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: D369G

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: D369G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: D369G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Anxa8 T A 14: 33,814,579 (GRCm39) probably null Het
Ap4e1 A G 2: 126,891,479 (GRCm39) I83M probably benign Het
Arhgap44 G C 11: 64,943,921 (GRCm39) P197A probably benign Het
Asb1 T A 1: 91,480,051 (GRCm39) V157E probably damaging Het
B3gat1 T A 9: 26,666,986 (GRCm39) Y73N probably benign Het
Bmp8a G A 4: 123,218,362 (GRCm39) T219I possibly damaging Het
Cacna1c G A 6: 118,728,502 (GRCm39) S285F probably damaging Het
Ckap2l C T 2: 129,111,176 (GRCm39) G674R probably damaging Het
Cog2 A G 8: 125,262,190 (GRCm39) Y276C probably damaging Het
Col16a1 A T 4: 129,948,901 (GRCm39) probably benign Het
Col5a1 G A 2: 27,901,353 (GRCm39) G1282R unknown Het
Cyp2c29 A T 19: 39,313,439 (GRCm39) M351L probably benign Het
Cyp4f15 T A 17: 32,911,554 (GRCm39) D145E probably benign Het
Defb48 T C 14: 63,221,906 (GRCm39) Y4C unknown Het
Dnaaf3 T C 7: 4,529,903 (GRCm39) Q292R probably benign Het
Dnah11 T C 12: 118,091,343 (GRCm39) M930V possibly damaging Het
Dnaja2 A T 8: 86,280,029 (GRCm39) I50K probably damaging Het
Dnm2 A G 9: 21,385,925 (GRCm39) N316S probably damaging Het
Dusp12 A G 1: 170,708,175 (GRCm39) Y181H possibly damaging Het
Efemp1 T G 11: 28,871,795 (GRCm39) F437V possibly damaging Het
Eps8l3 T A 3: 107,798,325 (GRCm39) V464D probably damaging Het
Fat2 A T 11: 55,175,886 (GRCm39) L1609Q probably benign Het
Fbxw24 C T 9: 109,453,910 (GRCm39) V79I probably benign Het
Fgl2 A T 5: 21,580,918 (GRCm39) Q420L probably benign Het
Filip1 T C 9: 79,727,396 (GRCm39) K408E probably benign Het
Fkbp9 A C 6: 56,852,692 (GRCm39) I471L probably benign Het
Fndc1 A T 17: 7,972,538 (GRCm39) S1465T probably damaging Het
Fry A T 5: 150,322,998 (GRCm39) T1050S probably benign Het
Gm12258 G A 11: 58,749,856 (GRCm39) V344I probably benign Het
Gtf3c1 A G 7: 125,262,712 (GRCm39) V1049A probably damaging Het
Ireb2 A G 9: 54,814,098 (GRCm39) E829G probably benign Het
Itih5 G A 2: 10,245,392 (GRCm39) V494I probably benign Het
Krt75 A T 15: 101,476,507 (GRCm39) D419E probably benign Het
Lama1 T C 17: 68,116,266 (GRCm39) S2378P probably damaging Het
Lcorl T A 5: 45,904,623 (GRCm39) probably null Het
Man2a1 A T 17: 64,966,004 (GRCm39) H314L probably damaging Het
Mthfd1l T A 10: 3,957,840 (GRCm39) H292Q possibly damaging Het
Ocm A T 5: 143,960,686 (GRCm39) M87K possibly damaging Het
Oplah A G 15: 76,186,968 (GRCm39) Y616H probably damaging Het
Or4s2b A T 2: 88,508,366 (GRCm39) S56C probably benign Het
Or52e4 A C 7: 104,705,863 (GRCm39) I137L probably benign Het
Or5b99 T C 19: 12,976,533 (GRCm39) L61P probably damaging Het
Or5p58 A C 7: 107,694,666 (GRCm39) I37S probably damaging Het
Or8c13 C A 9: 38,091,546 (GRCm39) S191I probably damaging Het
Or8g32 A G 9: 39,305,932 (GRCm39) T282A probably benign Het
Pde3a G A 6: 141,404,812 (GRCm39) V346M probably damaging Het
Pdlim1 T A 19: 40,231,892 (GRCm39) E162V possibly damaging Het
Pdzd2 C G 15: 12,374,681 (GRCm39) S1818T probably benign Het
Phf24 G A 4: 42,933,731 (GRCm39) G38S probably damaging Het
Plekhg1 T C 10: 3,907,186 (GRCm39) V701A probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Ptprz1 A G 6: 23,001,545 (GRCm39) S1212G probably benign Het
Rab3il1 C A 19: 10,004,808 (GRCm39) Q110K possibly damaging Het
Rin3 A T 12: 102,327,642 (GRCm39) probably benign Het
Rps6kb2 T A 19: 4,208,677 (GRCm39) K280* probably null Het
Slc27a6 G T 18: 58,705,105 (GRCm39) L162F possibly damaging Het
Slc6a19 T A 13: 73,832,161 (GRCm39) I472F possibly damaging Het
Spatc1l G A 10: 76,405,206 (GRCm39) R196Q probably damaging Het
Srp72 T C 5: 77,132,231 (GRCm39) I273T probably damaging Het
St8sia1 C A 6: 142,813,649 (GRCm39) S171I probably benign Het
Tas2r136 T C 6: 132,754,455 (GRCm39) H224R probably damaging Het
Tas2r140 A G 6: 133,032,743 (GRCm39) V5A possibly damaging Het
Tbce C T 13: 14,194,446 (GRCm39) R71H probably damaging Het
Tdrd9 A T 12: 111,963,269 (GRCm39) K115* probably null Het
Thada T A 17: 84,580,245 (GRCm39) H1403L probably damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Timm44 A G 8: 4,317,932 (GRCm39) S159P probably damaging Het
Tlk2 T A 11: 105,171,926 (GRCm39) C699S probably damaging Het
Tmem178b A G 6: 39,981,160 (GRCm39) K65R probably damaging Het
Ttc28 T C 5: 111,425,329 (GRCm39) V1718A possibly damaging Het
Ttc6 T G 12: 57,775,291 (GRCm39) C1662W probably damaging Het
Ube2frt T A 12: 36,140,729 (GRCm39) probably benign Het
Unc13a C A 8: 72,115,494 (GRCm39) probably null Het
Vip A T 10: 5,594,099 (GRCm39) I151F probably damaging Het
Vps16 C T 2: 130,280,030 (GRCm39) P85L probably benign Het
Wdsub1 T C 2: 59,700,743 (GRCm39) probably benign Het
Zc3h12c T C 9: 52,027,853 (GRCm39) D503G probably damaging 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
R4647:Cd163 UTSW 6 124,297,580 (GRCm39) missense probably damaging 1.00
R4713:Cd163 UTSW 6 124,294,577 (GRCm39) critical splice donor site probably null
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'- CAGTCATTTAGCTTATAAAGGGGAC -3'
(R):5'- TCCAGGAAAGAGCCACGTATTTG -3'

Sequencing Primer
(F):5'- TTAGCTTATAAAGGGGACTAGGCTC -3'
(R):5'- GAAAGAGCCACGTATTTGTTGCCC -3'
Posted On 2016-02-04