Incidental Mutation 'R7047:Msr1'
ID 547375
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 045145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7047 (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 40095657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 2 (T2I)
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: T2I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: T2I

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 possibly damaging
Transcript: ENSMUST00000170091
AA Change: T2I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: T2I

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 possibly damaging
Transcript: ENSMUST00000210525
AA Change: T2I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) probably benign 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
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'- CTACCAGTTTACCTGTTAAGCAAC -3'
(R):5'- ACTTGTGCATTGAAGAGAAGGC -3'

Sequencing Primer
(F):5'- ATTGATCAGATACTCTGTCTGTCTG -3'
(R):5'- CTTGTGCATTGAAGAGAAGGCTATTG -3'
Posted On 2019-05-13