Mutagenetix > Incidental Mutation

Incidental Mutation 'R7135:Msr1'

553002

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

045247-MU

Accession Numbers

Essential gene?

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

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40034726-40095714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40042465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 370 (V370E)

Ref Sequence

ENSEMBL: ENSMUSP00000026021 (fasta)

Gene Model

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

AlphaFold

P30204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026021
AA Change: V370E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: V370E

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

Meta Mutation Damage Score

0.7549

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,887 (GRCm39)	Y221*	probably null	Het
AC166344.1	T	A	14: 43,158,245 (GRCm39)	F97I		Het
Ankmy2	T	C	12: 36,246,311 (GRCm39)	S412P	probably benign	Het
Ap1s3	T	C	1: 79,586,919 (GRCm39)	T144A	probably benign	Het
Armh2	T	C	13: 24,925,489 (GRCm39)	S78P	probably benign	Het
Asb3	T	A	11: 30,948,501 (GRCm39)	L59*	probably null	Het
Asxl3	G	T	18: 22,650,758 (GRCm39)	G916*	probably null	Het
Asxl3	G	C	18: 22,650,759 (GRCm39)	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,762 (GRCm39)	F610V	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,549,855 (GRCm39)	S343P	probably benign	Het
Ccnk	T	A	12: 108,152,734 (GRCm39)	L17Q	probably damaging	Het
Cd59b	G	A	2: 103,914,792 (GRCm39)	W63*	probably null	Het
Chrm3	C	T	13: 9,927,837 (GRCm39)	V400I	probably benign	Het
Crb1	C	A	1: 139,171,105 (GRCm39)	V762F	probably damaging	Het
Cspp1	C	T	1: 10,159,161 (GRCm39)	T529I	possibly damaging	Het
Cttnbp2	A	G	6: 18,448,446 (GRCm39)	I71T	possibly damaging	Het
Cyb561	C	A	11: 105,826,393 (GRCm39)	G90V	probably damaging	Het
Cyld	T	A	8: 89,471,520 (GRCm39)	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,738,318 (GRCm39)	V160I	probably benign	Het
Dgkg	T	C	16: 22,319,132 (GRCm39)	D643G	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	T	G	14: 26,523,370 (GRCm39)	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,178,870 (GRCm39)	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,572,368 (GRCm39)	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,556,872 (GRCm39)		probably null	Het
Dsp	A	T	13: 38,363,049 (GRCm39)	Y443F	probably damaging	Het
Espl1	T	A	15: 102,227,959 (GRCm39)	C1603*	probably null	Het
Faiml	G	T	9: 99,116,496 (GRCm39)	R65S	probably benign	Het
Gfpt2	T	C	11: 49,695,782 (GRCm39)	I4T	probably damaging	Het
Gm10376	T	A	14: 42,867,950 (GRCm39)	M179L	probably benign	Het
Gm4302	T	A	10: 100,177,589 (GRCm39)	M291K	unknown	Het
Gnb1l	T	A	16: 18,363,918 (GRCm39)	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,681,727 (GRCm39)	R38G	possibly damaging	Het
Inmt	A	T	6: 55,148,013 (GRCm39)	Y205*	probably null	Het
Krba1	A	G	6: 48,393,233 (GRCm39)	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,810,683 (GRCm39)	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,294,019 (GRCm39)	I89F	probably damaging	Het
Map9	A	T	3: 82,270,765 (GRCm39)	T110S	probably benign	Het
Mccc1	T	C	3: 36,049,967 (GRCm39)	Y75C	probably damaging	Het
Mff	T	A	1: 82,724,812 (GRCm39)	L203*	probably null	Het
Micall1	C	A	15: 78,993,624 (GRCm39)	D47E	unknown	Het
Mink1	T	C	11: 70,494,329 (GRCm39)	F243S	probably damaging	Het
Mlycd	C	T	8: 120,129,216 (GRCm39)	R228W	probably damaging	Het
Naip6	T	C	13: 100,436,927 (GRCm39)	E532G	probably damaging	Het
Nepn	G	A	10: 52,267,815 (GRCm39)	C27Y	probably damaging	Het
Ninl	T	C	2: 150,797,524 (GRCm39)	H592R	probably benign	Het
Nr4a2	A	G	2: 57,002,261 (GRCm39)	M64T	possibly damaging	Het
Oprm1	A	T	10: 6,780,203 (GRCm39)	I171F	possibly damaging	Het
Or4g16	T	A	2: 111,137,365 (GRCm39)	F272I	probably benign	Het
Or5p60	T	C	7: 107,723,781 (GRCm39)	K230E	probably damaging	Het
Pcbp1	A	T	6: 86,502,488 (GRCm39)	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,306,524 (GRCm39)	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,017,683 (GRCm39)		probably null	Het
Pecam1	T	C	11: 106,579,857 (GRCm39)	I402V	probably damaging	Het
Pex12	T	C	11: 83,188,468 (GRCm39)	T176A	probably benign	Het
Phf3	T	C	1: 30,870,190 (GRCm39)	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,320,760 (GRCm39)	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,374 (GRCm39)		probably null	Het
Plekhn1	A	G	4: 156,307,792 (GRCm39)	V378A	probably benign	Het
Pramel26	A	T	4: 143,537,233 (GRCm39)	L366Q	probably damaging	Het
Ptprm	A	T	17: 67,251,283 (GRCm39)	D531E	possibly damaging	Het
Pum2	A	T	12: 8,778,952 (GRCm39)	Q508L	possibly damaging	Het
Rad54l	A	G	4: 115,963,027 (GRCm39)	S324P	probably damaging	Het
Recql5	C	T	11: 115,821,498 (GRCm39)		probably null	Het
Reln	A	T	5: 22,181,594 (GRCm39)	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,418,391 (GRCm39)	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,318,209 (GRCm39)	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Sim1	A	G	10: 50,772,023 (GRCm39)	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,447,059 (GRCm39)	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,344,270 (GRCm39)	G10S	probably null	Het
Speer1j	C	T	5: 11,555,198 (GRCm39)	P83S	probably damaging	Het
Stxbp3	A	G	3: 108,708,071 (GRCm39)	L410P	probably damaging	Het
Sugct	T	C	13: 17,476,594 (GRCm39)	N297D	probably benign	Het
Syne1	A	G	10: 5,183,409 (GRCm39)	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,750,912 (GRCm39)	L240F	probably damaging	Het
Tlr5	C	A	1: 182,803,088 (GRCm39)	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,249,643 (GRCm39)	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,773,572 (GRCm39)	A419D		Het
Ttc28	T	C	5: 111,427,873 (GRCm39)	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,006,327 (GRCm39)	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,372,253 (GRCm39)	D276E	possibly damaging	Het
Wdfy3	C	T	5: 102,063,303 (GRCm39)	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,229,830 (GRCm39)	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,559,161 (GRCm39)	S357P	unknown	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
R4807:Msr1	UTSW	8	40,095,668 (GRCm39)	start gained	probably benign
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
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

PCR Primer
(F):5'- CAGTGCTCATGAAGTTCTCAAAAC -3'
(R):5'- TTGCAGTTAAACTCTTGACCAGTAG -3'

Sequencing Primer
(F):5'- CTCTCTTGTGCACAGCTA -3'
(R):5'- TGGGAAGGGATGGGGTG -3'

Posted On

2019-05-15