Incidental Mutation 'IGL03340:Msr1'
ID 417174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msr1
Ensembl Gene ENSMUSG00000025044
Gene Name macrophage scavenger receptor 1
Synonyms SR-AII, Scara1, MRS-A, Scvr, MSR-A, SR-AI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL03340
Quality Score
Status
Chromosome 8
Chromosomal Location 40034726-40095714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40073048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 234 (K234E)
Ref Sequence ENSEMBL: ENSMUSP00000132535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026021] [ENSMUST00000170091] [ENSMUST00000210525]
AlphaFold P30204
Predicted Effect possibly damaging
Transcript: ENSMUST00000026021
AA Change: K234E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026021
Gene: ENSMUSG00000025044
AA Change: K234E

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: K234E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132535
Gene: ENSMUSG00000025044
AA Change: K234E

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
AA Change: K168E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210681
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fads2 G T 19: 10,069,136 (GRCm39) P96Q possibly damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Grk6 A G 13: 55,601,003 (GRCm39) D295G probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Krtap9-5 T C 11: 99,839,427 (GRCm39) C43R possibly damaging Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Or4c124 T C 2: 89,156,039 (GRCm39) T162A possibly damaging Het
Pdss2 A G 10: 43,269,997 (GRCm39) D280G probably benign Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown 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
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
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
Posted On 2016-08-02