Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01690:Cd163'

104093

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 #

IGL01690

Quality Score

Status

Chromosome

Chromosomal Location

124281615-124307486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124284277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000108160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032234] [ENSMUST00000112541]

AlphaFold

Q2VLH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032234
AA Change: S150P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: S150P

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

noncoding transcript
Transcript: ENSMUST00000104136

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112541
AA Change: S150P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: S150P

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,446 (GRCm39)		noncoding transcript	Het
Agap2	T	C	10: 126,918,827 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,721,678 (GRCm39)	T613I	probably benign	Het
Cfap107	G	A	4: 144,165,098 (GRCm39)	T26M	probably damaging	Het
F830045P16Rik	T	G	2: 129,314,614 (GRCm39)	Q221P	probably damaging	Het
Fam135b	T	A	15: 71,328,784 (GRCm39)	M1172L	probably benign	Het
Fbxo2	G	T	4: 148,249,581 (GRCm39)		probably null	Het
Frem1	C	T	4: 82,877,533 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,734 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,833,771 (GRCm39)	I170T	probably damaging	Het
Gm2399	C	T	13: 12,717,417 (GRCm39)		noncoding transcript	Het
Hdac10	T	A	15: 89,010,194 (GRCm39)	M283L	probably benign	Het
Icam5	A	G	9: 20,946,095 (GRCm39)	E309G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,277 (GRCm39)	V602A	probably benign	Het
Igkv3-5	T	A	6: 70,640,865 (GRCm39)	S115R	probably benign	Het
Impg2	A	G	16: 56,025,568 (GRCm39)	R67G	probably damaging	Het
Kansl1l	T	C	1: 66,840,232 (GRCm39)	Y356C	probably damaging	Het
Ly75	T	C	2: 60,168,655 (GRCm39)	D751G	probably damaging	Het
Lyst	A	G	13: 13,917,831 (GRCm39)	D3297G	probably damaging	Het
Mall	A	G	2: 127,571,699 (GRCm39)	F30L	probably benign	Het
Map1b	C	T	13: 99,571,512 (GRCm39)	G403D	probably damaging	Het
Mmp11	T	C	10: 75,762,730 (GRCm39)	Y241C	probably damaging	Het
Niban1	C	A	1: 151,579,555 (GRCm39)	R425S	probably damaging	Het
Or4a72	A	G	2: 89,405,557 (GRCm39)	V171A	probably benign	Het
Pcnt	C	T	10: 76,228,609 (GRCm39)	A1519T	probably damaging	Het
Pcsk2	A	G	2: 143,529,490 (GRCm39)	M96V	probably benign	Het
Piwil4	T	C	9: 14,614,391 (GRCm39)	D124G	probably damaging	Het
Plb1	A	T	5: 32,471,041 (GRCm39)	I538F	probably damaging	Het
Polq	A	G	16: 36,883,200 (GRCm39)	D1788G	probably damaging	Het
Pus7	A	G	5: 23,980,962 (GRCm39)	S134P	probably damaging	Het
Sec61a2	G	A	2: 5,891,363 (GRCm39)	S56L	possibly damaging	Het
Sel1l	G	T	12: 91,810,033 (GRCm39)	D26E	probably benign	Het
Slc25a48	G	A	13: 56,612,758 (GRCm39)		probably benign	Het
Tas2r126	T	C	6: 42,412,241 (GRCm39)	F258S	probably benign	Het
Tnfrsf13b	G	A	11: 61,032,146 (GRCm39)	V59I	possibly damaging	Het
Usp6nl	G	A	2: 6,445,879 (GRCm39)	V619M	probably benign	Het
Vmn1r67	A	G	7: 10,180,767 (GRCm39)	I10M	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,782 (GRCm39)	D38G	probably 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
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
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

2014-01-21