Incidental Mutation 'IGL01543:Scarf2'
ID90206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scarf2
Ensembl Gene ENSMUSG00000012017
Gene Namescavenger receptor class F, member 2
SynonymsSrec2, SREC-II
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL01543
Quality Score
Status
Chromosome16
Chromosomal Location17797282-17808293 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17802549 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 81 (N81S)
Ref Sequence ENSEMBL: ENSMUSP00000156358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012161] [ENSMUST00000232577]
Predicted Effect probably damaging
Transcript: ENSMUST00000012161
AA Change: N81S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: N81S

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
EGF 71 102 4.56e0 SMART
EGF 113 145 2.43e1 SMART
EGF 147 174 2.03e1 SMART
EGF_like 207 233 1.68e0 SMART
EGF 235 262 1.73e1 SMART
EGF_like 309 352 2.86e1 SMART
EGF_like 323 364 4.97e0 SMART
EGF_like 367 407 8.13e-1 SMART
low complexity region 437 459 N/A INTRINSIC
low complexity region 530 541 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 597 606 N/A INTRINSIC
low complexity region 616 632 N/A INTRINSIC
low complexity region 636 656 N/A INTRINSIC
low complexity region 665 685 N/A INTRINSIC
low complexity region 702 726 N/A INTRINSIC
low complexity region 781 802 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231383
Predicted Effect probably damaging
Transcript: ENSMUST00000232577
AA Change: N81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,676 I204T probably benign Het
Abhd16a T C 17: 35,091,037 S69P probably damaging Het
Ampd1 C T 3: 103,095,713 T582I probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arid1a A T 4: 133,681,722 F1825I unknown Het
Asxl1 G A 2: 153,401,484 G1318D probably benign Het
B4galnt3 G A 6: 120,209,312 H807Y probably benign Het
Bpifb5 G T 2: 154,233,249 V366F possibly damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Ccdc152 G A 15: 3,298,124 T57I possibly damaging Het
Ccs T C 19: 4,834,241 E61G possibly damaging Het
Chsy3 G A 18: 59,410,400 W870* probably null Het
Col8a1 G A 16: 57,627,734 P471L unknown Het
Cyp2j6 A C 4: 96,525,924 V368G possibly damaging Het
Dnajc3 T C 14: 118,960,862 probably null Het
Dpep3 A T 8: 105,976,182 M316K probably damaging Het
Galntl5 A G 5: 25,195,351 E126G probably damaging Het
Gli1 T C 10: 127,332,478 N502S probably damaging Het
Hus1 A G 11: 9,000,082 L213P probably benign Het
Hypk A G 2: 121,457,295 probably null Het
Igkv4-59 T A 6: 69,438,361 Y70F probably damaging Het
Impdh1 A C 6: 29,203,378 V14G probably damaging Het
Kif26b A G 1: 178,678,961 M201V probably benign Het
Macf1 A G 4: 123,401,457 I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 A244V probably damaging Het
Obscn T C 11: 59,042,117 D5619G probably benign Het
Olfr704 T C 7: 106,865,918 S313P probably benign Het
Pcdh7 T C 5: 57,720,765 V554A probably damaging Het
Piezo2 T C 18: 63,070,030 E1513G probably damaging Het
Rab6b A G 9: 103,162,638 D75G probably damaging Het
Ryr1 T C 7: 29,091,076 Y1435C probably damaging Het
Six5 G A 7: 19,096,347 A300T possibly damaging Het
Skap2 T A 6: 52,012,395 N3Y possibly damaging Het
Skint6 A T 4: 112,899,963 S734T probably benign Het
Slc15a4 A C 5: 127,603,766 H396Q probably benign Het
Slco6c1 A G 1: 97,125,828 M116T possibly damaging Het
Slfn9 T C 11: 82,987,949 D118G probably benign Het
Trim3 T C 7: 105,613,313 D546G probably damaging Het
Trpa1 A G 1: 14,900,076 L362P probably damaging Het
Vasn A G 16: 4,649,892 T568A possibly damaging Het
Vwa5b2 A G 16: 20,595,716 M281V probably benign Het
Wwp2 A G 8: 107,483,368 E126G probably damaging Het
Zfp398 G A 6: 47,866,063 G350S probably damaging Het
Other mutations in Scarf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Scarf2 APN 16 17803756 missense probably damaging 0.99
IGL02604:Scarf2 APN 16 17803744 missense probably damaging 0.97
IGL03155:Scarf2 APN 16 17807549 missense probably benign 0.00
R0639:Scarf2 UTSW 16 17806505 splice site probably null
R1703:Scarf2 UTSW 16 17802849 missense probably damaging 0.99
R2182:Scarf2 UTSW 16 17803022 missense probably damaging 1.00
R4730:Scarf2 UTSW 16 17803013 missense probably damaging 0.99
R4744:Scarf2 UTSW 16 17803516 missense probably damaging 0.99
R4798:Scarf2 UTSW 16 17803507 missense probably damaging 1.00
R5521:Scarf2 UTSW 16 17803602 critical splice donor site probably null
R5994:Scarf2 UTSW 16 17806379 missense probably damaging 0.99
R6742:Scarf2 UTSW 16 17806487 missense probably damaging 1.00
R7264:Scarf2 UTSW 16 17803290 missense possibly damaging 0.63
R7286:Scarf2 UTSW 16 17802973 nonsense probably null
Posted On2013-12-03