Incidental Mutation 'R6519:Msr1'
ID 521009
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 044646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 40034726-40095714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40077262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 116 (T116I)
Ref Sequence ENSEMBL: ENSMUSP00000132535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026021] [ENSMUST00000170091] [ENSMUST00000210525]
AlphaFold P30204
Predicted Effect probably benign
Transcript: ENSMUST00000026021
AA Change: T116I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: T116I

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
Predicted Effect probably benign
Transcript: ENSMUST00000170091
AA Change: T116I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: T116I

DomainStartEndE-ValueType
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: ENSMUST00000210681
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* 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
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'- TTGGAGATTGCATCCAGTGAATTC -3'
(R):5'- TTCAATGGGTGGGATTCAAAGAC -3'

Sequencing Primer
(F):5'- GAGATTGCATCCAGTGAATTCCCATG -3'
(R):5'- TTCAAAGACATAGGGATGATGAGCAC -3'
Posted On 2018-06-06