Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Msr1'

237700

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

040176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40034726-40095714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40084381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 58 (L58P)

Ref Sequence

ENSEMBL: ENSMUSP00000147644 (fasta)

Gene Model

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

AlphaFold

P30204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026021
AA Change: L58P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: L58P

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

possibly damaging
Transcript: ENSMUST00000170091
AA Change: L58P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: L58P

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 damaging
Transcript: ENSMUST00000210525
AA Change: L58P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210681

Meta Mutation Damage Score

0.4747

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	probably damaging	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
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
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

PCR Primer
(F):5'- AGGCATAAACCTAGCCCATTTTC -3'
(R):5'- CATGCCCACACAATGTGTATATG -3'

Sequencing Primer
(F):5'- TCCCTTACATTCTGCTTGAATAAAAG -3'
(R):5'- TAAGTTCTCTTACTTGTGTGACAAGC -3'

Posted On

2014-10-02