Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02733:Cd163'

305559

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 #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

124281615-124307486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124302300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 955 (C955R)

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: C955R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032234
Gene: ENSMUSG00000008845
AA Change: C955R

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: C955R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108160
Gene: ENSMUSG00000008845
AA Change: C955R

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793 (GRCm39)	T245S	probably benign	Het
Agl	T	C	3: 116,574,646 (GRCm39)	I718V	probably benign	Het
Cbs	T	A	17: 31,844,005 (GRCm39)	N209Y	probably benign	Het
Dnajb3	A	G	1: 88,132,662 (GRCm39)		probably benign	Het
Dop1b	G	A	16: 93,536,079 (GRCm39)	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,819,500 (GRCm39)	L566P	probably damaging	Het
Fgf14	G	T	14: 124,221,213 (GRCm39)	P197Q	probably damaging	Het
Gask1a	A	G	9: 121,794,094 (GRCm39)	R83G	probably benign	Het
Gcc1	G	A	6: 28,420,661 (GRCm39)	Q66*	probably null	Het
Gypc	T	C	18: 32,692,879 (GRCm39)		probably benign	Het
Helz2	G	A	2: 180,876,819 (GRCm39)	A1225V	probably benign	Het
Herc1	A	G	9: 66,358,274 (GRCm39)	T2452A	probably benign	Het
Hoxc4	A	G	15: 102,943,152 (GRCm39)	I2V	probably benign	Het
Impa1	A	G	3: 10,394,025 (GRCm39)	I14T	probably benign	Het
Itih1	T	A	14: 30,658,677 (GRCm39)	D400V	probably damaging	Het
Lama3	T	C	18: 12,711,184 (GRCm39)	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,714,192 (GRCm39)		probably benign	Het
Mcpt4	C	T	14: 56,298,124 (GRCm39)	M142I	probably benign	Het
Myo15b	A	G	11: 115,775,076 (GRCm39)	E2168G	probably benign	Het
Myom3	G	T	4: 135,541,614 (GRCm39)	E1402*	probably null	Het
Nfyb	G	T	10: 82,590,867 (GRCm39)	Q55K	probably damaging	Het
Nobox	T	C	6: 43,284,136 (GRCm39)	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,669,220 (GRCm39)	D406E	probably benign	Het
Pole	A	T	5: 110,460,594 (GRCm39)		probably benign	Het
Ppp2r2b	T	C	18: 42,781,793 (GRCm39)	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Prr11	C	T	11: 86,994,371 (GRCm39)	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,537,585 (GRCm39)	S67R	probably damaging	Het
Scn10a	G	A	9: 119,445,771 (GRCm39)	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,147,747 (GRCm39)	E29G	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Vmn2r72	T	A	7: 85,401,021 (GRCm39)	T133S	probably benign	Het
Zbtb20	A	G	16: 43,430,296 (GRCm39)	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,054,118 (GRCm39)	N526K	probably benign	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
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

2015-04-16