Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Marco'

288922

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marco

Ensembl Gene

ENSMUSG00000026390

Gene Name

macrophage receptor with collagenous structure

Synonyms

Scara2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

120402267-120432753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120422508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 58 (I58N)

Ref Sequence

ENSEMBL: ENSMUSP00000027639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027639] [ENSMUST00000186432]

AlphaFold

Q60754

PDB Structure

Crystal structure analysis of the monomeric SRCR domain of mouse MARCO [X-RAY DIFFRACTION]
Crystal structure analysis of the dimeric form of the SRCR domain of mouse MARCO [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027639
AA Change: I58N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390
AA Change: I58N

Domain	Start	End	E-Value	Type
SCOP:d1g38a_	65	93	1e-2	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Collagen	149	208	2.5e-12	PFAM
Pfam:Collagen	192	266	2.7e-10	PFAM
low complexity region	293	315	N/A	INTRINSIC
low complexity region	323	345	N/A	INTRINSIC
internal_repeat_1	347	400	5.11e-17	PROSPERO
low complexity region	401	419	N/A	INTRINSIC
SR	423	518	1.66e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186432
AA Change: I51N

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140948
Gene: ENSMUSG00000026390
AA Change: I51N

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:Collagen	68	123	3.7e-10	PFAM

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 class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show altered spleen marginal zone architecture and impaired IgM responses to a pneumococcal polysaccharide vaccine. Mice homozygous for another null allele show increased susceptibility to bacterial pneumonia and enhanced inflammatory responses to inhaled particles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 132,789,860 (GRCm39)	C367Y	possibly damaging	Het
AI182371	T	A	2: 34,975,728 (GRCm39)	I279L	probably benign	Het
Ambp	A	T	4: 63,061,934 (GRCm39)	C332S	probably damaging	Het
App	T	C	16: 84,970,407 (GRCm39)	T14A	probably benign	Het
Asap1	A	T	15: 63,995,519 (GRCm39)		probably null	Het
Aurka	T	C	2: 172,201,778 (GRCm39)	R242G	probably benign	Het
BC034090	G	A	1: 155,093,217 (GRCm39)	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,119,918 (GRCm39)	D23G	probably damaging	Het
Cabp2	A	C	19: 4,134,154 (GRCm39)	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,542,173 (GRCm39)	S557N	probably benign	Het
Ccdc146	G	T	5: 21,524,604 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,412,615 (GRCm39)	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,783,675 (GRCm39)	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,755,829 (GRCm39)	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,288,859 (GRCm39)	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,085,335 (GRCm39)	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,514,229 (GRCm39)		probably benign	Het
Dnajc27	A	G	12: 4,146,229 (GRCm39)	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,202,783 (GRCm39)	D715G	probably damaging	Het
Dock1	G	T	7: 134,734,804 (GRCm39)	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,083,279 (GRCm39)	Y727*	probably null	Het
Fbxw20	T	A	9: 109,055,046 (GRCm39)	T168S	probably benign	Het
Folh1	A	T	7: 86,385,723 (GRCm39)		probably benign	Het
Gas7	A	T	11: 67,573,557 (GRCm39)	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,309,987 (GRCm39)	E259G	probably benign	Het
Gm8325	T	C	3: 60,784,805 (GRCm39)		noncoding transcript	Het
Gpr75	A	T	11: 30,841,730 (GRCm39)	T212S	probably benign	Het
Itgb4	A	G	11: 115,898,795 (GRCm39)	T1711A	probably damaging	Het
Ly75	T	C	2: 60,184,796 (GRCm39)	S453G	probably benign	Het
Maneal	A	G	4: 124,754,276 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,686,965 (GRCm39)	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,258,054 (GRCm39)	V56D	probably damaging	Het
Npy1r	G	A	8: 67,156,954 (GRCm39)	V125I	probably damaging	Het
Or1j19	C	T	2: 36,676,557 (GRCm39)	Q7*	probably null	Het
Or52n20	T	C	7: 104,320,888 (GRCm39)		probably benign	Het
Or7g25	A	G	9: 19,159,960 (GRCm39)	L245P	probably damaging	Het
Osmr	A	T	15: 6,867,210 (GRCm39)	L362*	probably null	Het
Pdlim2	T	C	14: 70,411,906 (GRCm39)	D42G	probably damaging	Het
Plcb4	T	A	2: 135,842,100 (GRCm39)	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,104,047 (GRCm39)	M1175K	probably benign	Het
Pzp	T	A	6: 128,463,133 (GRCm39)	N1423I	probably benign	Het
Retnla	G	A	16: 48,664,561 (GRCm39)	C105Y	probably damaging	Het
Samd8	T	A	14: 21,825,544 (GRCm39)	S167T	possibly damaging	Het
Scg2	A	G	1: 79,414,210 (GRCm39)	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,939,941 (GRCm39)	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,152,455 (GRCm39)	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,258,338 (GRCm39)	T500A	probably damaging	Het
Slc44a4	G	T	17: 35,142,786 (GRCm39)	G396V	possibly damaging	Het
Smarca5	A	G	8: 81,446,199 (GRCm39)		probably benign	Het
St8sia6	T	A	2: 13,798,156 (GRCm39)	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,069,337 (GRCm39)		noncoding transcript	Het
Stn1	T	C	19: 47,502,329 (GRCm39)	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,259,800 (GRCm39)	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490 (GRCm39)		probably null	Het
Thsd7b	G	T	1: 129,523,508 (GRCm39)	V181L	probably damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Trpm4	T	G	7: 44,976,422 (GRCm39)	R51S	probably damaging	Het
Vmn1r91	A	T	7: 19,835,671 (GRCm39)	T197S	probably damaging	Het
Vmn2r-ps158	T	C	7: 42,697,160 (GRCm39)	I739T	probably damaging	Het
Xrn1	A	G	9: 95,859,880 (GRCm39)	D424G	probably benign	Het
Yap1	A	G	9: 7,962,282 (GRCm39)		probably null	Het
Zer1	T	C	2: 30,003,405 (GRCm39)	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292 (GRCm39)	I753F	possibly damaging	Het

Other mutations in Marco

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Marco	APN	1	120,413,432 (GRCm39)	missense	probably benign
IGL01343:Marco	APN	1	120,422,469 (GRCm39)	critical splice donor site	probably null
IGL02117:Marco	APN	1	120,418,683 (GRCm39)	missense	probably benign	0.00
IGL03293:Marco	APN	1	120,422,524 (GRCm39)	missense	probably benign	0.08
P0027:Marco	UTSW	1	120,402,441 (GRCm39)	missense	probably damaging	1.00
R0548:Marco	UTSW	1	120,419,767 (GRCm39)	missense	probably benign	0.00
R1450:Marco	UTSW	1	120,404,474 (GRCm39)	splice site	probably benign
R1958:Marco	UTSW	1	120,412,593 (GRCm39)	missense	probably damaging	1.00
R2444:Marco	UTSW	1	120,422,499 (GRCm39)	missense	probably damaging	1.00
R2568:Marco	UTSW	1	120,422,514 (GRCm39)	missense	possibly damaging	0.86
R4740:Marco	UTSW	1	120,422,499 (GRCm39)	missense	probably damaging	1.00
R4979:Marco	UTSW	1	120,421,954 (GRCm39)	missense	probably benign	0.02
R5393:Marco	UTSW	1	120,413,583 (GRCm39)	missense	probably damaging	1.00
R5536:Marco	UTSW	1	120,432,464 (GRCm39)	missense	possibly damaging	0.85
R6022:Marco	UTSW	1	120,416,294 (GRCm39)	missense	probably benign	0.00
R6028:Marco	UTSW	1	120,418,671 (GRCm39)	missense	probably damaging	0.97
R6058:Marco	UTSW	1	120,404,435 (GRCm39)	missense	probably damaging	1.00
R7565:Marco	UTSW	1	120,402,395 (GRCm39)	missense	probably damaging	1.00
R7682:Marco	UTSW	1	120,421,771 (GRCm39)	critical splice donor site	probably null
R8002:Marco	UTSW	1	120,422,509 (GRCm39)	missense	probably benign	0.18
R9157:Marco	UTSW	1	120,421,814 (GRCm39)	missense	probably damaging	1.00
R9313:Marco	UTSW	1	120,421,814 (GRCm39)	missense	probably damaging	1.00
T0722:Marco	UTSW	1	120,402,441 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16