Incidental Mutation 'R9723:Msr1'
ID 730924
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 40034726-40095714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40042357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 406 (V406A)
Ref Sequence ENSEMBL: ENSMUSP00000026021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026021]
AlphaFold P30204
Predicted Effect possibly damaging
Transcript: ENSMUST00000026021
AA Change: V406A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: V406A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 G A 1: 75,156,366 (GRCm39) R133W probably benign Het
Abcc3 T A 11: 94,250,725 (GRCm39) T877S probably benign Het
Alb A T 5: 90,611,962 (GRCm39) K130N probably damaging Het
Alkbh8 G A 9: 3,385,283 (GRCm39) S560N probably benign Het
Angel2 T G 1: 190,671,342 (GRCm39) L234R probably damaging Het
Catip C T 1: 74,403,745 (GRCm39) T154I probably benign Het
Ccdc163 C T 4: 116,569,595 (GRCm39) Q102* probably null Het
Cep250 A G 2: 155,823,337 (GRCm39) E997G probably benign Het
Ces2f T C 8: 105,677,463 (GRCm39) I183T possibly damaging Het
Commd8 A G 5: 72,318,309 (GRCm39) V158A possibly damaging Het
Cyp2b9 C T 7: 25,909,596 (GRCm39) Q455* probably null Het
D5Ertd579e G T 5: 36,772,284 (GRCm39) H704N probably damaging Het
Dnah1 T C 14: 30,987,946 (GRCm39) T3491A probably damaging Het
Dnai1 T G 4: 41,603,302 (GRCm39) F195C possibly damaging Het
Dock7 A G 4: 98,908,270 (GRCm39) V620A Het
Dock7 A T 4: 98,960,660 (GRCm39) D289E Het
Dpys T A 15: 39,691,509 (GRCm39) E271V probably damaging Het
Elovl3 T C 19: 46,123,155 (GRCm39) Y244H probably damaging Het
Enam G A 5: 88,652,241 (GRCm39) G1250E probably damaging Het
Espl1 C T 15: 102,229,170 (GRCm39) T1774M probably benign Het
Fasl T C 1: 161,615,535 (GRCm39) K107R probably benign Het
Fbn1 A T 2: 125,202,119 (GRCm39) C1251* probably null Het
Fn1 G T 1: 71,663,369 (GRCm39) Q1040K possibly damaging Het
Frem3 C T 8: 81,341,352 (GRCm39) S1215L probably benign Het
G3bp2 A T 5: 92,214,388 (GRCm39) D135E possibly damaging Het
Gabpb1 C T 2: 126,488,648 (GRCm39) V240I probably benign Het
Galnt12 C G 4: 47,119,541 (GRCm39) Y452* probably null Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Gm12258 C T 11: 58,750,448 (GRCm39) P541L unknown Het
Gm12789 T A 4: 101,846,083 (GRCm39) W115R possibly damaging Het
Gm8126 T C 14: 43,119,141 (GRCm39) probably null Het
Gpr179 A T 11: 97,225,546 (GRCm39) L2203H possibly damaging Het
H1f6 A G 13: 23,879,906 (GRCm39) K20E probably damaging Het
Hapln3 A T 7: 78,771,736 (GRCm39) V51E possibly damaging Het
Ifit1 A G 19: 34,626,257 (GRCm39) *464W probably null Het
Il1r1 A C 1: 40,332,721 (GRCm39) I137L probably benign Het
Il1rap T A 16: 26,442,907 (GRCm39) M1K probably null Het
Lgi2 A G 5: 52,695,843 (GRCm39) L372P probably damaging Het
Lrrc46 A G 11: 96,925,773 (GRCm39) S230P possibly damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mapk8ip3 C A 17: 25,132,585 (GRCm39) W339L possibly damaging Het
Msln A T 17: 25,969,008 (GRCm39) M459K possibly damaging Het
Ndst2 G T 14: 20,775,512 (GRCm39) D659E probably benign Het
Npat T A 9: 53,473,746 (GRCm39) S513T probably benign Het
Npat T G 9: 53,481,861 (GRCm39) L1190V probably damaging Het
Npc1 A G 18: 12,343,649 (GRCm39) I448T probably benign Het
Omd T C 13: 49,743,838 (GRCm39) F296S probably damaging Het
Oprm1 A G 10: 6,788,514 (GRCm39) N423S possibly damaging Het
Oxtr G A 6: 112,466,304 (GRCm39) T152I probably benign Het
Pak2 A T 16: 31,852,650 (GRCm39) V297E probably damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pet100 G A 8: 3,672,374 (GRCm39) M20I probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Plekhn1 A G 4: 156,306,875 (GRCm39) S505P probably benign Het
Plin5 G A 17: 56,423,290 (GRCm39) A90V probably damaging Het
Poc5 A G 13: 96,551,026 (GRCm39) T526A probably benign Het
Potefam1 T C 2: 111,058,700 (GRCm39) H84R probably damaging Het
Pramel7 C T 2: 87,320,019 (GRCm39) V425I possibly damaging Het
Rad51d A T 11: 82,781,162 (GRCm39) probably null Het
Rbp3 T C 14: 33,677,474 (GRCm39) M474T possibly damaging Het
Rcan3 A G 4: 135,152,680 (GRCm39) S14P probably benign Het
Rps6ka4 A T 19: 6,816,663 (GRCm39) V140E probably damaging Het
Rsbn1l G A 5: 21,101,464 (GRCm39) S692L possibly damaging Het
Sgk1 A T 10: 21,872,239 (GRCm39) I272F probably damaging Het
Skor1 A G 9: 63,053,714 (GRCm39) V85A probably damaging Het
Slc12a1 A T 2: 125,059,827 (GRCm39) D909V probably damaging Het
Slc25a18 C A 6: 120,770,489 (GRCm39) A283E probably benign Het
Slc41a1 T C 1: 131,772,103 (GRCm39) L411P possibly damaging Het
Spata13 T C 14: 60,928,498 (GRCm39) S19P probably damaging Het
Stab1 T A 14: 30,885,848 (GRCm39) H42L probably benign Het
Stag3 T A 5: 138,298,103 (GRCm39) D698E probably benign Het
Syngap1 G A 17: 27,189,510 (GRCm39) R1305H possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Trappc9 A G 15: 72,461,963 (GRCm39) Y1101H possibly damaging Het
Ttn A G 2: 76,601,929 (GRCm39) Y10251H probably damaging Het
Uhrf1 A G 17: 56,625,061 (GRCm39) K535E probably damaging Het
Usp14 G T 18: 10,009,993 (GRCm39) Q185K probably damaging Het
Usp32 A T 11: 84,935,536 (GRCm39) Y413* probably null Het
Uvssa G A 5: 33,547,382 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,774 (GRCm39) L34Q probably damaging Het
Wdr41 T C 13: 95,151,671 (GRCm39) L277P probably damaging Het
Zc2hc1b T A 10: 13,044,497 (GRCm39) L55F probably damaging Het
Zfp345 A C 2: 150,314,189 (GRCm39) Y449* probably null Het
Other mutations in Msr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Z1177:Msr1 UTSW 8 40,084,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGCTTTCAAGAATTGGG -3'
(R):5'- GCTTGCAGTTAAACTCTTGACC -3'

Sequencing Primer
(F):5'- CCTGCTTTCAAGAATTGGGACGATAG -3'
(R):5'- TACTCGGGTCCAACCACG -3'
Posted On 2022-10-06