Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02897:Cd163'

363452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd163

Ensembl Gene

ENSMUSG00000008845

Gene Name

CD163 antigen

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02897

Quality Score

Status

Chromosome

Chromosomal Location

124281615-124307486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124302486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1017 (S1017C)

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: S1017C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: S1017C

Domain	Start	End	E-Value	Type
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: S1017C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: S1017C

Domain	Start	End	E-Value	Type
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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,308 (GRCm39)	E108D	probably benign	Het
Abca7	T	C	10: 79,837,426 (GRCm39)	F437L	probably damaging	Het
Abi2	T	C	1: 60,487,353 (GRCm39)	V134A	probably damaging	Het
Ablim2	T	C	5: 35,990,470 (GRCm39)	I75T	probably damaging	Het
Aldh1a3	A	G	7: 66,077,075 (GRCm39)	V29A	probably benign	Het
Bptf	T	C	11: 106,937,947 (GRCm39)	K2715E	probably damaging	Het
Cdc14b	T	C	13: 64,395,067 (GRCm39)	I76V	probably benign	Het
Cers6	T	A	2: 68,764,877 (GRCm39)	C63*	probably null	Het
Chd9	T	C	8: 91,660,496 (GRCm39)		probably benign	Het
Col19a1	T	C	1: 24,573,179 (GRCm39)	N198D	unknown	Het
Cse1l	T	C	2: 166,761,628 (GRCm39)	C61R	possibly damaging	Het
Cubn	T	C	2: 13,323,123 (GRCm39)	T2815A	possibly damaging	Het
Cyp19a1	G	T	9: 54,074,195 (GRCm39)	T453K	possibly damaging	Het
Dlg1	G	T	16: 31,590,674 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,243,684 (GRCm39)	Y339C	probably damaging	Het
Dtl	T	C	1: 191,273,656 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,219,466 (GRCm39)	E469G	probably damaging	Het
Ing3	T	A	6: 21,969,325 (GRCm39)	V202E	probably benign	Het
Inpp5j	A	G	11: 3,450,619 (GRCm39)	L578P	probably damaging	Het
Irak4	A	G	15: 94,451,872 (GRCm39)	N155S	probably benign	Het
Kif2b	A	T	11: 91,467,045 (GRCm39)	S413T	probably damaging	Het
L3mbtl1	A	T	2: 162,807,692 (GRCm39)	Y490F	probably damaging	Het
Med17	T	G	9: 15,178,830 (GRCm39)	D447A	probably damaging	Het
Med26	T	C	8: 73,250,365 (GRCm39)	T245A	probably benign	Het
Nlrc3	A	T	16: 3,781,938 (GRCm39)	S490R	possibly damaging	Het
Nme5	A	G	18: 34,702,956 (GRCm39)		probably benign	Het
Or51aa5	T	C	7: 103,167,337 (GRCm39)	R85G	probably benign	Het
Rnf10	G	T	5: 115,386,700 (GRCm39)	Q530K	probably benign	Het
Robo3	A	T	9: 37,338,798 (GRCm39)	Y281*	probably null	Het
Sclt1	T	C	3: 41,629,822 (GRCm39)	I330V	probably benign	Het
Smim14	A	T	5: 65,607,739 (GRCm39)		probably benign	Het
Trank1	T	G	9: 111,196,585 (GRCm39)	H1536Q	probably damaging	Het
Tspan18	A	G	2: 93,050,518 (GRCm39)	L35P	possibly damaging	Het
Ubr4	G	A	4: 139,199,819 (GRCm39)	V4568M	probably damaging	Het
Vmn1r63	A	G	7: 5,805,744 (GRCm39)	V296A	possibly damaging	Het

Other mutations in Cd163

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18