Incidental Mutation 'R6931:Scarb1'
ID 540015
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 045326-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6931 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 125277087-125341094 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125284719 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 107 (I107F)
Ref Sequence ENSEMBL: ENSMUSP00000122100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086075] [ENSMUST00000111390] [ENSMUST00000127148]
AlphaFold Q61009
Predicted Effect probably damaging
Transcript: ENSMUST00000086075
AA Change: I406F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: I406F

DomainStartEndE-ValueType
Pfam:CD36 16 463 6.4e-154 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111390
AA Change: I406F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: I406F

DomainStartEndE-ValueType
Pfam:CD36 14 465 4.7e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127148
AA Change: I107F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122100
Gene: ENSMUSG00000037936
AA Change: I107F

DomainStartEndE-ValueType
Pfam:CD36 1 123 1.2e-43 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik T C 6: 96,165,548 (GRCm38) T172A possibly damaging Het
2310003L06Rik T A 5: 87,970,702 (GRCm38) I15N probably damaging Het
2900092C05Rik T A 7: 12,512,596 (GRCm38) S6R unknown Het
Abca6 T A 11: 110,244,328 (GRCm38) L210F probably benign Het
Abcc4 T C 14: 118,527,988 (GRCm38) Q919R probably damaging Het
Adcy1 A G 11: 7,150,884 (GRCm38) D811G possibly damaging Het
Akna A G 4: 63,387,102 (GRCm38) S476P probably benign Het
Ankrd49 T C 9: 14,782,826 (GRCm38) N15S probably benign Het
Apcdd1 A G 18: 62,933,908 (GRCm38) D31G probably damaging Het
Aplp1 G T 7: 30,443,200 (GRCm38) R106S probably damaging Het
Arhgap40 T C 2: 158,531,218 (GRCm38) L132S probably benign Het
Atp8b5 G T 4: 43,364,108 (GRCm38) probably null Het
Axl T C 7: 25,761,433 (GRCm38) D717G probably damaging Het
Bub1 T A 2: 127,801,382 (GRCm38) D1014V probably damaging Het
Cacna2d4 T A 6: 119,282,234 (GRCm38) V603E possibly damaging Het
Cnot11 G C 1: 39,539,921 (GRCm38) C289S probably damaging Het
Coasy A G 11: 101,083,581 (GRCm38) H191R probably benign Het
Cyp11a1 A T 9: 58,025,120 (GRCm38) N341Y possibly damaging Het
Cyp1a2 T C 9: 57,682,156 (GRCm38) N125S probably benign Het
Cyp2j8 A T 4: 96,444,781 (GRCm38) probably null Het
Dnah9 A T 11: 66,117,626 (GRCm38) I791K possibly damaging Het
Ecm2 A T 13: 49,529,011 (GRCm38) Q505H probably benign Het
Fam135a T A 1: 24,085,487 (GRCm38) M1L probably damaging Het
Fam171a2 A G 11: 102,438,434 (GRCm38) S500P possibly damaging Het
Fat3 A G 9: 15,959,942 (GRCm38) S3718P possibly damaging Het
Frem1 G A 4: 82,970,677 (GRCm38) P1085S probably damaging Het
Gcfc2 A G 6: 81,942,985 (GRCm38) I390V probably benign Het
Gemin4 A G 11: 76,210,956 (GRCm38) L993P probably damaging Het
Ggnbp2 T A 11: 84,833,167 (GRCm38) D647V probably damaging Het
Gm7534 A T 4: 134,193,153 (GRCm38) M567K probably benign Het
Gpr84 A C 15: 103,309,014 (GRCm38) L212R probably damaging Het
Hnrnpu T C 1: 178,331,432 (GRCm38) probably benign Het
Hspg2 G T 4: 137,540,720 (GRCm38) C2116F probably damaging Het
Icam4 T A 9: 21,030,451 (GRCm38) V249E probably damaging Het
Itga1 T C 13: 115,001,563 (GRCm38) N429D probably benign Het
Kcns1 T C 2: 164,164,838 (GRCm38) T402A probably damaging Het
Ky T A 9: 102,537,627 (GRCm38) V246E probably damaging Het
March1 A G 8: 66,468,492 (GRCm38) T529A probably benign Het
Med18 C G 4: 132,459,883 (GRCm38) V102L probably damaging Het
Mlst8 T C 17: 24,477,275 (GRCm38) D160G probably damaging Het
Mthfd1 T C 12: 76,303,698 (GRCm38) I470T probably benign Het
Muc1 C T 3: 89,229,159 (GRCm38) probably benign Het
Mup8 G A 4: 60,220,322 (GRCm38) L137F probably damaging Het
Mybpc1 A T 10: 88,542,330 (GRCm38) L341* probably null Het
Nacad A G 11: 6,601,877 (GRCm38) F438S probably benign Het
Necap2 C A 4: 141,078,212 (GRCm38) probably null Het
Nifk T C 1: 118,332,348 (GRCm38) L163S possibly damaging Het
Npsr1 A G 9: 24,289,997 (GRCm38) I73V probably benign Het
Olfr1179 G A 2: 88,402,064 (GRCm38) T290I probably benign Het
Olfr1186 T A 2: 88,526,194 (GRCm38) C204S possibly damaging Het
Olfr142 A T 2: 90,252,777 (GRCm38) C70* probably null Het
Olfr715 A G 7: 107,128,901 (GRCm38) L164P probably damaging Het
Oog3 C T 4: 144,159,353 (GRCm38) C225Y probably benign Het
Plagl2 C A 2: 153,235,943 (GRCm38) K39N probably benign Het
Plcg2 T A 8: 117,557,319 (GRCm38) D118E probably benign Het
Ppp4r3b A T 11: 29,211,786 (GRCm38) K720I possibly damaging Het
Prmt3 A T 7: 49,829,016 (GRCm38) T442S probably benign Het
Prr14l G A 5: 32,830,691 (GRCm38) H487Y probably damaging Het
Psmb3 G A 11: 97,703,971 (GRCm38) V63I probably benign Het
Psmc6 T A 14: 45,343,725 (GRCm38) I326K possibly damaging Het
Ptcd1 T C 5: 145,155,075 (GRCm38) T405A probably benign Het
Rbm33 G A 5: 28,410,745 (GRCm38) V29M probably damaging Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Slc39a12 A G 2: 14,389,375 (GRCm38) S19G probably benign Het
Slc44a5 T C 3: 154,258,506 (GRCm38) V503A probably benign Het
Slc9a9 T C 9: 94,670,086 (GRCm38) S9P possibly damaging Het
Snrnp35 A C 5: 124,490,701 (GRCm38) R192S possibly damaging Het
Tbx15 T C 3: 99,352,151 (GRCm38) L446P probably damaging Het
Tlnrd1 A G 7: 83,882,597 (GRCm38) F209L probably benign Het
Tmprss12 C T 15: 100,285,268 (GRCm38) R164C probably damaging Het
Tnfsf4 T A 1: 161,417,073 (GRCm38) F111Y possibly damaging Het
Trib2 A T 12: 15,793,639 (GRCm38) M198K probably benign Het
Ttll8 A G 15: 88,914,304 (GRCm38) S743P possibly damaging Het
Ush2a A T 1: 188,728,383 (GRCm38) N2614Y probably benign Het
Usp6nl G A 2: 6,430,458 (GRCm38) V343I possibly damaging Het
Vrtn C A 12: 84,650,242 (GRCm38) Q589K probably benign Het
Zbed5 T A 5: 129,903,329 (GRCm38) Y706* probably null Het
Zc3h10 A G 10: 128,544,684 (GRCm38) V268A probably damaging Het
Zfp442 C T 2: 150,410,940 (GRCm38) probably null 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
R7058:Scarb1 UTSW 5 125,297,230 (GRCm38) missense probably damaging 1.00
R7099:Scarb1 UTSW 5 125,304,350 (GRCm38) missense probably damaging 0.98
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'- GGGGCCATTAACAAAACCTG -3'
(R):5'- CTGTACGTAGCGTTACAGGCTC -3'

Sequencing Primer
(F):5'- ATTCCAGTTCTAGGAGACCTGATGC -3'
(R):5'- GTAGCGTTACAGGCTCCCCTTTATC -3'
Posted On 2018-11-06