Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Marco'

74962

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: 0.068) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

120402267-120432753 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 120422469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140948 (fasta)

Gene Model

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

AlphaFold

Q60754

Predicted Effect

probably null
Transcript: ENSMUST00000027639

SMART Domains

Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390

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 null
Transcript: ENSMUST00000027639

SMART Domains

Protein: ENSMUSP00000027639
Gene: ENSMUSG00000026390

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 null
Transcript: ENSMUST00000186432

SMART Domains

Protein: ENSMUSP00000140948
Gene: ENSMUSG00000026390

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably 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
IGL02117:Marco	APN	1	120,418,683 (GRCm39)	missense	probably benign	0.00
IGL02338:Marco	APN	1	120,422,508 (GRCm39)	missense	possibly damaging	0.90
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

2013-10-07