Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Msr1'

370760

Institutional Source

Beutler Lab

Gene Symbol

Msr1

Ensembl Gene

ENSMUSG00000025044

Gene Name

macrophage scavenger receptor 1

Synonyms

SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40034726-40095714 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 40095668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026021] [ENSMUST00000170091] [ENSMUST00000210525]

AlphaFold

P30204

Predicted Effect

probably benign
Transcript: ENSMUST00000026021

SMART Domains

Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
Pfam:Macscav_rec	125	173	1.5e-28	PFAM
coiled coil region	209	259	N/A	INTRINSIC
Pfam:Collagen	275	330	3.2e-11	PFAM
Pfam:Collagen	295	353	4.8e-10	PFAM
SR	357	457	5.68e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170091

SMART Domains

Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044

Domain	Start	End	E-Value	Type
transmembrane domain	58	80	N/A	INTRINSIC
Pfam:Macscav_rec	125	173	6.6e-34	PFAM
Pfam:Collagen	275	330	1.9e-10	PFAM
Pfam:Collagen	292	352	7.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210681

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Msr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Msr1	APN	8	40,064,714 (GRCm39)	missense	probably benign	0.42
IGL02047:Msr1	APN	8	40,077,001 (GRCm39)	missense	probably benign	0.03
IGL02218:Msr1	APN	8	40,042,357 (GRCm39)	missense	possibly damaging	0.51
IGL02347:Msr1	APN	8	40,085,778 (GRCm39)	missense	probably damaging	1.00
IGL02546:Msr1	APN	8	40,068,788 (GRCm39)	missense	probably benign
IGL02707:Msr1	APN	8	40,085,870 (GRCm39)	splice site	probably benign
IGL03340:Msr1	APN	8	40,073,048 (GRCm39)	missense	possibly damaging	0.53
R0349:Msr1	UTSW	8	40,034,868 (GRCm39)	missense	probably damaging	1.00
R0378:Msr1	UTSW	8	40,042,423 (GRCm39)	missense	possibly damaging	0.92
R0633:Msr1	UTSW	8	40,073,041 (GRCm39)	missense	probably damaging	0.99
R1386:Msr1	UTSW	8	40,042,334 (GRCm39)	nonsense	probably null
R1807:Msr1	UTSW	8	40,072,948 (GRCm39)	missense	probably benign	0.33
R2039:Msr1	UTSW	8	40,042,418 (GRCm39)	missense	probably damaging	1.00
R2174:Msr1	UTSW	8	40,084,381 (GRCm39)	missense	probably damaging	1.00
R2291:Msr1	UTSW	8	40,077,263 (GRCm39)	missense	probably benign	0.03
R3983:Msr1	UTSW	8	40,073,059 (GRCm39)	missense	possibly damaging	0.89
R4921:Msr1	UTSW	8	40,077,292 (GRCm39)	missense	possibly damaging	0.72
R5055:Msr1	UTSW	8	40,076,997 (GRCm39)	missense	possibly damaging	0.78
R5567:Msr1	UTSW	8	40,064,760 (GRCm39)	missense	probably benign
R5570:Msr1	UTSW	8	40,064,760 (GRCm39)	missense	probably benign
R5871:Msr1	UTSW	8	40,064,693 (GRCm39)	missense	probably damaging	0.97
R5914:Msr1	UTSW	8	40,034,868 (GRCm39)	missense	probably damaging	1.00
R6141:Msr1	UTSW	8	40,084,360 (GRCm39)	missense	probably damaging	1.00
R6429:Msr1	UTSW	8	40,068,858 (GRCm39)	missense	probably damaging	0.99
R6519:Msr1	UTSW	8	40,077,262 (GRCm39)	missense	probably benign
R6527:Msr1	UTSW	8	40,077,274 (GRCm39)	missense	possibly damaging	0.72
R6842:Msr1	UTSW	8	40,085,866 (GRCm39)	missense	probably benign	0.01
R7006:Msr1	UTSW	8	40,042,423 (GRCm39)	missense	probably damaging	0.99
R7047:Msr1	UTSW	8	40,095,657 (GRCm39)	missense	possibly damaging	0.92
R7135:Msr1	UTSW	8	40,042,465 (GRCm39)	missense	possibly damaging	0.93
R7552:Msr1	UTSW	8	40,077,003 (GRCm39)	missense	probably benign	0.19
R7837:Msr1	UTSW	8	40,034,873 (GRCm39)	missense	probably damaging	0.99
R8995:Msr1	UTSW	8	40,042,460 (GRCm39)	missense	possibly damaging	0.54
R9707:Msr1	UTSW	8	40,076,988 (GRCm39)	missense	probably benign	0.06
R9723:Msr1	UTSW	8	40,042,357 (GRCm39)	missense	possibly damaging	0.51
Z1177:Msr1	UTSW	8	40,084,343 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-02-04