Incidental Mutation 'R5929:Cd163'
ID 460091
Institutional Source Beutler Lab
Gene Symbol Cd163
Ensembl Gene ENSMUSG00000008845
Gene Name CD163 antigen
Synonyms
MMRRC Submission 044124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5929 (G1)
Quality Score 151
Status Validated
Chromosome 6
Chromosomal Location 124281615-124307486 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 124303568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032234] [ENSMUST00000032234] [ENSMUST00000112541] [ENSMUST00000112541]
AlphaFold Q2VLH6
Predicted Effect probably null
Transcript: ENSMUST00000032234
SMART Domains Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845

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 null
Transcript: ENSMUST00000032234
SMART Domains Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845

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 null
Transcript: ENSMUST00000112541
SMART Domains Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845

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 probably null
Transcript: ENSMUST00000112541
SMART Domains Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845

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
Meta Mutation Damage Score 0.9481 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 99% (84/85)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 C T 14: 52,001,708 (GRCm39) C80Y probably damaging Het
Ankib1 T C 5: 3,819,633 (GRCm39) I95M possibly damaging Het
Ankrd1 T C 19: 36,095,277 (GRCm39) E137G possibly damaging Het
Car6 T C 4: 150,280,592 (GRCm39) H84R probably damaging Het
Casd1 T A 6: 4,629,993 (GRCm39) L463Q probably damaging Het
Casz1 T A 4: 149,023,426 (GRCm39) L491Q probably damaging Het
Casz1 C T 4: 149,023,153 (GRCm39) S400L probably damaging Het
Catsperd A T 17: 56,959,493 (GRCm39) H311L probably benign Het
Ccdc83 A G 7: 89,885,524 (GRCm39) probably benign Het
Cd244a A T 1: 171,386,935 (GRCm39) R15W probably damaging Het
Ces3b A G 8: 105,819,797 (GRCm39) K490R probably damaging Het
Chordc1 T C 9: 18,215,658 (GRCm39) S137P possibly damaging Het
Col4a1 T A 8: 11,266,788 (GRCm39) T1140S probably benign Het
Col6a4 T C 9: 105,940,243 (GRCm39) E1229G probably benign Het
Cr2 A G 1: 194,853,419 (GRCm39) S20P possibly damaging Het
Dcaf13 T A 15: 39,007,048 (GRCm39) H327Q possibly damaging Het
Depdc5 G T 5: 33,132,850 (GRCm39) E646* probably null Het
Dnah5 G A 15: 28,311,353 (GRCm39) M1777I probably benign Het
Dnah5 G T 15: 28,311,354 (GRCm39) A1778S probably damaging Het
Dnajc5b T C 3: 19,601,019 (GRCm39) Y39H probably damaging Het
Dsp A T 13: 38,379,410 (GRCm39) I1453F possibly damaging Het
Fyn T A 10: 39,427,457 (GRCm39) W447R probably damaging Het
Gabra6 T A 11: 42,208,389 (GRCm39) M148L probably damaging Het
Gcfc2 T A 6: 81,923,580 (GRCm39) V32D probably damaging Het
Ginm1 G T 10: 7,649,814 (GRCm39) L160I probably benign Het
Gm19345 A G 7: 19,591,747 (GRCm39) Y221H probably damaging Het
Gpr155 G A 2: 73,204,011 (GRCm39) R268* probably null Het
Hacl1 T A 14: 31,338,345 (GRCm39) M411L probably benign Het
Hdac3 C T 18: 38,074,394 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,453,047 (GRCm39) E5423* probably null Het
Ipo4 T C 14: 55,868,646 (GRCm39) H454R probably benign Het
Itpr1 A T 6: 108,400,297 (GRCm39) I1693F probably benign Het
Kif12 T C 4: 63,086,754 (GRCm39) T361A probably damaging Het
Kif21b A G 1: 136,078,945 (GRCm39) E431G probably damaging Het
Kif27 C T 13: 58,491,784 (GRCm39) A452T probably benign Het
Kifbp A T 10: 62,395,181 (GRCm39) I487N probably damaging Het
Lhcgr A T 17: 89,050,436 (GRCm39) Y363* probably null Het
Lrrc8d A T 5: 105,960,472 (GRCm39) K294I probably damaging Het
Mapk3 A C 7: 126,359,030 (GRCm39) probably benign Het
Mogat1 A T 1: 78,500,370 (GRCm39) I145F probably benign Het
Mtmr7 T C 8: 41,011,399 (GRCm39) probably null Het
Ndufaf6 T C 4: 11,051,150 (GRCm39) N317D probably benign Het
Nfe2l1 G T 11: 96,718,185 (GRCm39) Q117K probably damaging Het
Odad3 T C 9: 21,913,718 (GRCm39) E18G possibly damaging Het
Olfm3 T G 3: 114,895,529 (GRCm39) I137S probably damaging Het
Or4f7d-ps1 T A 2: 111,674,631 (GRCm39) noncoding transcript Het
Otub1 G A 19: 7,177,350 (GRCm39) S99F probably damaging Het
Padi2 T G 4: 140,671,848 (GRCm39) probably null Het
Paip1 C T 13: 119,582,326 (GRCm39) T268I probably damaging Het
Pak1ip1 T C 13: 41,158,276 (GRCm39) S50P probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phkb A G 8: 86,697,543 (GRCm39) I451V probably benign Het
Plcg1 T A 2: 160,595,522 (GRCm39) probably null Het
Prg4 A G 1: 150,329,880 (GRCm39) F722S probably benign Het
Prss3 T C 6: 41,353,738 (GRCm39) probably null Het
Psmd3 C T 11: 98,586,422 (GRCm39) P530L probably damaging Het
Rims1 A T 1: 22,507,322 (GRCm39) D609E probably damaging Het
Sema3f T C 9: 107,569,392 (GRCm39) Y82C probably damaging Het
Shoc1 G T 4: 59,092,497 (GRCm39) S228* probably null Het
Slc35b2 G T 17: 45,877,587 (GRCm39) W238L probably benign Het
Sox12 T C 2: 152,239,308 (GRCm39) Y104C probably damaging Het
Stx5a T G 19: 8,719,675 (GRCm39) D13E probably damaging Het
Tlr7 C A X: 166,089,878 (GRCm39) G536V probably damaging Het
Tspan12 A G 6: 21,772,746 (GRCm39) S220P possibly damaging Het
Utp11 T C 4: 124,576,036 (GRCm39) T173A probably damaging Het
Wrnip1 G C 13: 32,990,949 (GRCm39) D403H probably damaging Het
Xpnpep1 T C 19: 53,001,920 (GRCm39) T109A probably damaging Het
Zfp354b A T 11: 50,813,282 (GRCm39) F548I probably damaging Het
Zup1 A T 10: 33,825,043 (GRCm39) Y146* probably null 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
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'- AGCTTTACTTCAGGGCAAGGG -3'
(R):5'- AGGATGCAGAGTACATTACTGTAGC -3'

Sequencing Primer
(F):5'- CTTTACTTCAGGGCAAGGGAAAGAG -3'
(R):5'- AGTACATTACTGTAGCCAGGGCTTC -3'
Posted On 2017-02-28