Incidental Mutation 'R7552:Cd163'
ID 584467
Institutional Source Beutler Lab
Gene Symbol Cd163
Ensembl Gene ENSMUSG00000008845
Gene Name CD163 antigen
Synonyms
MMRRC Submission 045621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7552 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124281615-124307486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124284187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 120 (T120A)
Ref Sequence ENSEMBL: ENSMUSP00000108160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032234] [ENSMUST00000112541]
AlphaFold Q2VLH6
Predicted Effect probably benign
Transcript: ENSMUST00000032234
AA Change: T120A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: T120A

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 benign
Transcript: ENSMUST00000112541
AA Change: T120A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: T120A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A G 10: 80,419,737 (GRCm39) Y290H probably benign Het
Aco2 T C 15: 81,788,142 (GRCm39) V257A probably damaging Het
Adam26a C A 8: 44,023,007 (GRCm39) C161F possibly damaging Het
Adam9 G A 8: 25,445,988 (GRCm39) P820S unknown Het
Adcy4 G A 14: 56,010,922 (GRCm39) T665M probably benign Het
Ahnak T A 19: 8,984,188 (GRCm39) M1824K probably benign Het
Alpi T C 1: 87,026,795 (GRCm39) N428D probably benign Het
Ano5 C T 7: 51,196,528 (GRCm39) P153L probably benign Het
Atp1a1 A T 3: 101,489,437 (GRCm39) L725* probably null Het
Atp8b2 G A 3: 89,854,071 (GRCm39) T595I probably damaging Het
Ccdc66 T C 14: 27,220,820 (GRCm39) I35V possibly damaging Het
Cmah A T 13: 24,640,938 (GRCm39) T396S possibly damaging Het
Cmya5 C T 13: 93,205,820 (GRCm39) V3350I probably benign Het
Commd9 A C 2: 101,731,410 (GRCm39) K198N probably damaging Het
Cxcr1 A G 1: 74,231,773 (GRCm39) V83A probably benign Het
D630045J12Rik A G 6: 38,125,383 (GRCm39) S1544P probably damaging Het
Ddt A T 10: 75,609,048 (GRCm39) probably null Het
Depdc7 A G 2: 104,557,585 (GRCm39) S222P possibly damaging Het
Ehd2 A G 7: 15,684,431 (GRCm39) I456T probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Esr1 G A 10: 4,806,903 (GRCm39) R273H probably damaging Het
Fras1 G A 5: 96,916,297 (GRCm39) D3444N probably damaging Het
Hand2 A G 8: 57,775,272 (GRCm39) R111G probably damaging Het
Hecw1 A T 13: 14,490,835 (GRCm39) V306E probably damaging Het
Ift140 T C 17: 25,252,089 (GRCm39) I312T probably benign Het
Ikbke A T 1: 131,199,887 (GRCm39) L257* probably null Het
Kcnk5 G A 14: 20,192,349 (GRCm39) P271S probably benign Het
Lama1 T C 17: 68,044,662 (GRCm39) V187A Het
Lemd2 A T 17: 27,412,810 (GRCm39) probably null Het
Lig3 T A 11: 82,679,717 (GRCm39) D341E probably benign Het
Lpcat1 C T 13: 73,643,014 (GRCm39) S196L probably damaging Het
Lrp1b A T 2: 40,567,582 (GRCm39) D4048E Het
Lrrfip1 G A 1: 91,033,005 (GRCm39) E158K probably damaging Het
Mcm5 T C 8: 75,848,220 (GRCm39) S490P probably damaging Het
Mia3 A C 1: 183,147,036 (GRCm39) Y73* probably null Het
Minar1 T A 9: 89,483,888 (GRCm39) H503L probably benign Het
Msr1 A T 8: 40,077,003 (GRCm39) N202K probably benign Het
N4bp2l2 A T 5: 150,585,286 (GRCm39) Y231* probably null Het
Nbeal2 A G 9: 110,482,985 (GRCm39) W11R probably benign Het
Ncor1 T C 11: 62,264,250 (GRCm39) E384G possibly damaging Het
Neb A G 2: 52,137,202 (GRCm39) V254A Het
Nlrp9b T C 7: 19,779,691 (GRCm39) S785P probably benign Het
Oprd1 T G 4: 131,841,092 (GRCm39) I289L possibly damaging Het
Or4c10 G T 2: 89,761,064 (GRCm39) D304Y probably benign Het
Or4s2 A G 2: 88,473,752 (GRCm39) I214V probably benign Het
Or5m12 A G 2: 85,734,447 (GRCm39) V317A probably benign Het
Or6a2 T C 7: 106,600,534 (GRCm39) T178A probably benign Het
Or6c2 T A 10: 129,362,429 (GRCm39) F111Y possibly damaging Het
Orc1 A G 4: 108,445,951 (GRCm39) N23S probably benign Het
Paip1 A T 13: 119,577,356 (GRCm39) H149L possibly damaging Het
Pdhx A T 2: 102,877,099 (GRCm39) D103E probably benign Het
Pi4ka T C 16: 17,109,080 (GRCm39) Y1614C Het
Pias3 ACC AC 3: 96,608,701 (GRCm39) probably null Het
Pigb A G 9: 72,941,770 (GRCm39) V163A probably benign Het
Pla2g4d A G 2: 120,114,620 (GRCm39) I37T possibly damaging Het
Ppfia1 A T 7: 144,059,982 (GRCm39) V610D probably damaging Het
Pramel41 G A 5: 94,596,394 (GRCm39) C477Y probably damaging Het
Prss1 T C 6: 41,439,507 (GRCm39) V80A probably benign Het
Psph G A 5: 129,847,800 (GRCm39) R49W probably benign Het
Qrich2 T C 11: 116,347,080 (GRCm39) Y1248C possibly damaging Het
Rlbp1 T A 7: 79,029,861 (GRCm39) Y124F probably damaging Het
Scn4a T A 11: 106,239,995 (GRCm39) E74V probably benign Het
Sdk2 A T 11: 113,764,039 (GRCm39) I249N possibly damaging Het
Sgsh A T 11: 119,237,378 (GRCm39) L412Q probably damaging Het
Shank1 C A 7: 44,002,452 (GRCm39) D1390E probably benign Het
Slc12a6 A G 2: 112,172,319 (GRCm39) D421G probably damaging Het
Snx29 T A 16: 11,238,649 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,937 (GRCm39) Y493C probably damaging Het
Stmn4 G A 14: 66,593,727 (GRCm39) G40E probably damaging Het
Stox2 A G 8: 47,656,154 (GRCm39) probably null Het
Strada T C 11: 106,077,830 (GRCm39) S45G unknown Het
Taco1 G A 11: 105,962,774 (GRCm39) G154S probably benign Het
Tas2r121 T C 6: 132,677,505 (GRCm39) M156V probably benign Het
Tbc1d31 A G 15: 57,804,136 (GRCm39) S384G probably benign Het
Tbc1d9 A T 8: 83,966,560 (GRCm39) D387V probably damaging Het
Tet3 A G 6: 83,345,289 (GRCm39) L1716P probably damaging Het
Thbs1 A G 2: 117,943,843 (GRCm39) K154E possibly damaging Het
Ush2a T C 1: 187,999,241 (GRCm39) Y184H possibly damaging Het
Vmn1r235 C A 17: 21,481,713 (GRCm39) Q13K probably benign Het
Vmn2r15 A T 5: 109,440,774 (GRCm39) Y361* probably null Het
Vmn2r88 A T 14: 51,648,315 (GRCm39) probably null Het
Vps54 T C 11: 21,248,831 (GRCm39) V460A probably benign Het
Wdr64 A G 1: 175,613,147 (GRCm39) N674S possibly damaging Het
Zfp592 A G 7: 80,673,390 (GRCm39) D118G probably benign Het
Zfp763 A G 17: 33,237,625 (GRCm39) Y507H probably benign Het
Zfp934 T C 13: 62,640,705 (GRCm39) E16G probably damaging Het
Zfyve26 G A 12: 79,337,731 (GRCm39) L94F 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
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
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'- ACTGTGCTGACTTGTTACTTGC -3'
(R):5'- ATGACTGTGCTAGAATGCAATGG -3'

Sequencing Primer
(F):5'- GTTGACTTGTTAATGCAGGAGAAATG -3'
(R):5'- TGCAATGGAATGTTGAATCCAAG -3'
Posted On 2019-10-17