Incidental Mutation 'R7099:Scarb1'
ID 550694
Institutional Source Beutler Lab
Gene Symbol Scarb1
Ensembl Gene ENSMUSG00000037936
Gene Name scavenger receptor class B, member 1
Synonyms Cd36l1, Srb1, Hdlq1, SRBI, Hlb398, Cla-1, SR-BI, D5Ertd460e
MMRRC Submission 045191-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7099 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 125277087-125341094 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125304350 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 43 (N43K)
Ref Sequence ENSEMBL: ENSMUSP00000083242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086075] [ENSMUST00000111390] [ENSMUST00000137783]
AlphaFold Q61009
PDB Structure Molecular analysis of the interaction of the HDL-receptor SR-BI with the PDZ3 domain of its adaptor protein PDZK1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000086075
AA Change: N43K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: N43K

DomainStartEndE-ValueType
Pfam:CD36 16 463 6.4e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111390
AA Change: N43K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: N43K

DomainStartEndE-ValueType
Pfam:CD36 14 465 4.7e-158 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000137783
AA Change: C32S
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (65/65)
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 a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Targeted mutations result in abnormal lipoprotein metablolism and, for one allele, reversible female infertility. An ENU mutant shows increased cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik C T 16: 64,770,788 (GRCm38) A26T probably benign Het
Acly T C 11: 100,492,291 (GRCm38) probably null Het
Adam29 A C 8: 55,871,404 (GRCm38) L672V probably benign Het
Adgrf1 T C 17: 43,310,602 (GRCm38) S577P probably benign Het
Ankar T C 1: 72,643,293 (GRCm38) K1371R probably damaging Het
Arid5b T C 10: 68,098,179 (GRCm38) D631G probably damaging Het
Brpf3 T C 17: 28,806,637 (GRCm38) V228A probably benign Het
C3 T C 17: 57,206,276 (GRCm38) D1457G probably benign Het
Calr4 A T 4: 109,242,229 (GRCm38) N143I probably benign Het
Catsperd T G 17: 56,628,811 (GRCm38) probably null Het
Cobl T A 11: 12,296,540 (GRCm38) H154L Het
Cryzl2 G A 1: 157,488,584 (GRCm38) probably benign Het
Dennd1c A G 17: 57,067,915 (GRCm38) probably null Het
Dnah8 A T 17: 30,704,724 (GRCm38) D1222V possibly damaging Het
Errfi1 T C 4: 150,866,768 (GRCm38) S218P probably benign Het
Fbxw27 G T 9: 109,770,155 (GRCm38) T398N probably damaging Het
Fhod3 A G 18: 25,090,162 (GRCm38) D855G probably benign Het
Flii A G 11: 60,720,655 (GRCm38) V410A probably benign Het
Fsip2 C A 2: 82,987,624 (GRCm38) P4567Q probably benign Het
Fxyd1 T G 7: 31,053,033 (GRCm38) Q66H probably damaging Het
Gdi1 G A X: 74,306,855 (GRCm38) R55H probably benign Het
Gramd3 C T 18: 56,491,945 (GRCm38) T370I probably benign Het
Kdr A G 5: 75,944,333 (GRCm38) V1079A probably damaging Het
Lmx1a G A 1: 167,830,546 (GRCm38) G166D probably damaging Het
Lrrfip2 A G 9: 111,173,108 (GRCm38) R92G probably benign Het
Map1a T A 2: 121,300,517 (GRCm38) S605T probably benign Het
Megf8 A T 7: 25,346,520 (GRCm38) D1496V probably damaging Het
Mgam T C 6: 40,661,716 (GRCm38) V461A probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 (GRCm38) probably null Het
Nav3 T C 10: 109,703,334 (GRCm38) T2069A probably benign Het
Nbeal2 A T 9: 110,645,438 (GRCm38) probably null Het
Ndst1 A G 18: 60,695,500 (GRCm38) F661L possibly damaging Het
Neu3 G A 7: 99,813,820 (GRCm38) T232M possibly damaging Het
Nf1 T C 11: 79,570,330 (GRCm38) S741P probably benign Het
Nr5a1 G T 2: 38,694,136 (GRCm38) L424M probably damaging Het
Nuf2 G A 1: 169,506,072 (GRCm38) T345M probably benign Het
Olfr1301 A T 2: 111,755,076 (GRCm38) T276S probably benign Het
Olfr1426 A G 19: 12,088,166 (GRCm38) F209L possibly damaging Het
Olfr212 T A 6: 116,516,760 (GRCm38) *328R probably null Het
Olfr952 G A 9: 39,426,303 (GRCm38) T256I probably benign Het
Otud7a A G 7: 63,757,455 (GRCm38) E502G possibly damaging Het
Otulin A G 15: 27,608,746 (GRCm38) L237S probably damaging Het
Pias1 A G 9: 62,881,145 (GRCm38) M79T Het
Prom2 T C 2: 127,539,778 (GRCm38) E206G probably benign Het
Sdad1 A G 5: 92,293,973 (GRCm38) V365A possibly damaging Het
Sdk2 T C 11: 113,834,905 (GRCm38) T1173A probably damaging Het
Sidt1 A G 16: 44,243,497 (GRCm38) S803P probably damaging Het
Slc45a1 A T 4: 150,629,573 (GRCm38) D738E probably benign Het
Slc4a7 T A 14: 14,733,750 (GRCm38) H53Q probably damaging Het
Spata22 T C 11: 73,340,399 (GRCm38) F160L probably benign Het
Stag1 G A 9: 100,944,826 (GRCm38) V949I probably benign Het
Syne1 T C 10: 5,123,744 (GRCm38) S1200G probably benign Het
Tbc1d9 A G 8: 83,254,891 (GRCm38) E729G probably damaging Het
Tcaf2 C T 6: 42,630,341 (GRCm38) M226I probably benign Het
Tep1 T C 14: 50,844,487 (GRCm38) probably null Het
Tigd2 C A 6: 59,210,181 (GRCm38) T11K probably damaging Het
Trappc9 A G 15: 72,693,619 (GRCm38) V941A probably benign Het
Ugt2b37 A G 5: 87,240,989 (GRCm38) M455T probably benign Het
Usp42 A T 5: 143,726,645 (GRCm38) S95T probably damaging Het
Usp44 T C 10: 93,850,187 (GRCm38) I488T possibly damaging Het
Vmn1r73 T C 7: 11,756,393 (GRCm38) I46T probably damaging Het
Vmn2r34 A T 7: 7,672,541 (GRCm38) I616N probably damaging Het
Zfp352 A G 4: 90,224,880 (GRCm38) K419R probably benign Het
Zfp595 T A 13: 67,317,647 (GRCm38) H187L probably damaging Het
Zfp804b A T 5: 6,772,161 (GRCm38) S301T probably benign Het
Zzef1 T C 11: 72,872,649 (GRCm38) V1374A possibly damaging Het
Other mutations in Scarb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Scarb1 APN 5 125,289,702 (GRCm38) missense probably benign 0.01
IGL03052:Scarb1 UTSW 5 125,294,099 (GRCm38) missense probably damaging 1.00
R0051:Scarb1 UTSW 5 125,281,100 (GRCm38) splice site probably null
R0317:Scarb1 UTSW 5 125,289,692 (GRCm38) missense probably damaging 0.99
R0455:Scarb1 UTSW 5 125,289,681 (GRCm38) missense probably damaging 0.96
R0491:Scarb1 UTSW 5 125,298,731 (GRCm38) unclassified probably benign
R0655:Scarb1 UTSW 5 125,300,440 (GRCm38) missense probably damaging 1.00
R0676:Scarb1 UTSW 5 125,297,214 (GRCm38) unclassified probably benign
R2074:Scarb1 UTSW 5 125,294,143 (GRCm38) missense probably benign
R2267:Scarb1 UTSW 5 125,287,375 (GRCm38) missense possibly damaging 0.82
R3951:Scarb1 UTSW 5 125,287,411 (GRCm38) missense probably damaging 0.99
R4080:Scarb1 UTSW 5 125,277,795 (GRCm38) missense probably damaging 1.00
R4452:Scarb1 UTSW 5 125,300,345 (GRCm38) missense probably damaging 1.00
R4925:Scarb1 UTSW 5 125,297,299 (GRCm38) missense probably damaging 1.00
R5669:Scarb1 UTSW 5 125,300,387 (GRCm38) missense probably damaging 1.00
R5809:Scarb1 UTSW 5 125,304,222 (GRCm38) missense probably damaging 0.98
R5872:Scarb1 UTSW 5 125,304,277 (GRCm38) missense possibly damaging 0.60
R5883:Scarb1 UTSW 5 125,340,907 (GRCm38) unclassified probably benign
R6321:Scarb1 UTSW 5 125,304,331 (GRCm38) missense probably damaging 1.00
R6508:Scarb1 UTSW 5 125,304,325 (GRCm38) missense possibly damaging 0.49
R6618:Scarb1 UTSW 5 125,304,330 (GRCm38) missense probably damaging 0.96
R6931:Scarb1 UTSW 5 125,284,719 (GRCm38) missense probably damaging 1.00
R7058:Scarb1 UTSW 5 125,297,230 (GRCm38) missense probably damaging 1.00
R7146:Scarb1 UTSW 5 125,284,025 (GRCm38) missense probably benign
R7830:Scarb1 UTSW 5 125,287,383 (GRCm38) missense probably damaging 1.00
R7873:Scarb1 UTSW 5 125,294,039 (GRCm38) missense probably damaging 1.00
R8158:Scarb1 UTSW 5 125,303,137 (GRCm38) missense probably benign 0.01
R8467:Scarb1 UTSW 5 125,298,667 (GRCm38) missense probably damaging 0.99
R8500:Scarb1 UTSW 5 125,294,163 (GRCm38) missense probably damaging 1.00
R8814:Scarb1 UTSW 5 125,294,092 (GRCm38) missense probably benign 0.00
R9025:Scarb1 UTSW 5 125,304,350 (GRCm38) missense probably damaging 0.98
R9169:Scarb1 UTSW 5 125,294,082 (GRCm38) missense probably damaging 1.00
R9462:Scarb1 UTSW 5 125,340,827 (GRCm38) missense probably damaging 1.00
R9685:Scarb1 UTSW 5 125,294,130 (GRCm38) missense possibly damaging 0.49
R9699:Scarb1 UTSW 5 125,297,232 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAAAACTCAGCATGGCAG -3'
(R):5'- AAGACACGCCTCTTCCTCCG -3'

Sequencing Primer
(F):5'- TCAGCATGGCAGAACACC -3'
(R):5'- GTTCTCCAACTAAAGGCTAAGCTG -3'
Posted On 2019-05-15