Incidental Mutation 'R8038:Scarb2'
ID 618326
Institutional Source Beutler Lab
Gene Symbol Scarb2
Ensembl Gene ENSMUSG00000029426
Gene Name scavenger receptor class B, member 2
Synonyms LGP85, Cd36l2, 9330185J12Rik, LIMP-2, LIMP II
MMRRC Submission 067475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8038 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 92589170-92653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92599307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 338 (S338T)
Ref Sequence ENSEMBL: ENSMUSP00000031377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031377]
AlphaFold O35114
Predicted Effect probably damaging
Transcript: ENSMUST00000031377
AA Change: S338T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: S338T

DomainStartEndE-ValueType
Pfam:CD36 11 457 6.8e-154 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: This gene encodes a CD36-like type III transmembrane glycoprotein that localizes to the lysosomal membrane. Mice lacking the encoded protein exhibit an increased postnatal mortality caused by an obstruction of the ureteropelvic junction, deafness, peripheral demyelinating neuropathy and tubular proteinuria. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in renal dysfunction, progressive deafness, and progressive demylination of the peripheral nerves. Mutant animals show a 2-fold increased water consumption along with increased urine volume, and develop an enlarged, ball-like trunk with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,106,730 (GRCm39) M143K probably damaging Het
Accs A T 2: 93,673,262 (GRCm39) probably null Het
Alkbh5 T C 11: 60,429,811 (GRCm39) V188A probably damaging Het
Cacna1h C T 17: 25,594,865 (GRCm39) V2098I probably damaging Het
Chuk A G 19: 44,067,416 (GRCm39) Y580H probably damaging Het
Col7a1 A G 9: 108,786,360 (GRCm39) N530S unknown Het
Cops2 A T 2: 125,674,206 (GRCm39) H420Q probably benign Het
Ctcfl A T 2: 172,943,698 (GRCm39) C551S probably damaging Het
Depdc5 T C 5: 33,116,692 (GRCm39) probably null Het
Dnmt1 A C 9: 20,852,860 (GRCm39) V82G probably damaging Het
Fam90a1a A T 8: 22,453,455 (GRCm39) N270I possibly damaging Het
Foxn4 T C 5: 114,394,658 (GRCm39) D423G probably damaging Het
Hoxa5 A G 6: 52,181,309 (GRCm39) S8P probably damaging Het
Ighe A T 12: 113,233,053 (GRCm39) V456D Het
Ighv1-52 A G 12: 115,109,210 (GRCm39) F83S probably damaging Het
Itga2 A T 13: 114,990,291 (GRCm39) N921K probably damaging Het
Kdm2b T C 5: 123,098,958 (GRCm39) probably benign Het
Llgl2 T G 11: 115,741,929 (GRCm39) M657R probably benign Het
Lrrcc1 T A 3: 14,630,890 (GRCm39) I1019K possibly damaging Het
Lrriq3 A T 3: 154,869,638 (GRCm39) D321V probably benign Het
Lsm10 T C 4: 125,991,890 (GRCm39) V82A probably damaging Het
Mettl3 A G 14: 52,537,421 (GRCm39) S154P possibly damaging Het
Naip2 T C 13: 100,298,570 (GRCm39) I489V probably benign Het
Nat8f5 T A 6: 85,794,667 (GRCm39) T98S possibly damaging Het
Or10w1 G A 19: 13,632,719 (GRCm39) V309M possibly damaging Het
Or4c113 A T 2: 88,885,212 (GRCm39) L186Q probably damaging Het
Or7e166 G T 9: 19,624,976 (GRCm39) M284I possibly damaging Het
Or8d6 T A 9: 39,854,177 (GRCm39) V207D probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pld5 T C 1: 175,872,463 (GRCm39) I225V probably benign Het
Ppfia1 C A 7: 144,068,653 (GRCm39) A414S possibly damaging Het
Ppib T C 9: 65,967,615 (GRCm39) V23A probably benign Het
Rabggta A T 14: 55,956,387 (GRCm39) S361T probably benign Het
Rap1gap2 T C 11: 74,283,109 (GRCm39) S664G probably benign Het
Recql5 A G 11: 115,818,178 (GRCm39) V285A possibly damaging Het
Rtn4rl1 G C 11: 75,156,707 (GRCm39) E380Q possibly damaging Het
Skint4 T G 4: 111,977,003 (GRCm39) probably benign Het
Slc13a5 T C 11: 72,144,196 (GRCm39) K294R probably benign Het
Spib A G 7: 44,179,310 (GRCm39) F32S probably benign Het
Spint2 A G 7: 28,959,554 (GRCm39) probably benign Het
Sycp2 A T 2: 178,045,571 (GRCm39) D16E probably damaging Het
Tab1 A G 15: 80,044,471 (GRCm39) T500A probably benign Het
Tecpr2 T C 12: 110,902,854 (GRCm39) F860L probably benign Het
Tg A G 15: 66,560,724 (GRCm39) M1029V probably benign Het
Tmem126b C T 7: 90,118,830 (GRCm39) V153I probably benign Het
Uba2 A T 7: 33,847,022 (GRCm39) Y440N probably damaging Het
Vwa2 A G 19: 56,886,320 (GRCm39) E129G probably benign Het
Wapl A G 14: 34,413,639 (GRCm39) D167G probably benign Het
Zfp64 A G 2: 168,741,932 (GRCm39) F332S probably damaging Het
Zfp786 C T 6: 47,798,188 (GRCm39) R250H probably benign Het
Other mutations in Scarb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Scarb2 APN 5 92,594,203 (GRCm39) missense probably damaging 1.00
IGL01743:Scarb2 APN 5 92,608,662 (GRCm39) missense probably benign 0.01
IGL02182:Scarb2 APN 5 92,601,913 (GRCm39) missense probably damaging 1.00
IGL02602:Scarb2 APN 5 92,596,415 (GRCm39) missense probably benign 0.12
IGL03260:Scarb2 APN 5 92,594,296 (GRCm39) missense probably damaging 1.00
scarab UTSW 5 92,599,205 (GRCm39) critical splice donor site probably null
R1332:Scarb2 UTSW 5 92,599,205 (GRCm39) critical splice donor site probably null
R1335:Scarb2 UTSW 5 92,599,205 (GRCm39) critical splice donor site probably null
R1526:Scarb2 UTSW 5 92,594,200 (GRCm39) missense possibly damaging 0.50
R1748:Scarb2 UTSW 5 92,608,695 (GRCm39) missense probably damaging 1.00
R1779:Scarb2 UTSW 5 92,596,416 (GRCm39) missense probably benign 0.13
R1928:Scarb2 UTSW 5 92,592,125 (GRCm39) missense possibly damaging 0.50
R4952:Scarb2 UTSW 5 92,602,636 (GRCm39) missense probably damaging 0.97
R5702:Scarb2 UTSW 5 92,599,255 (GRCm39) missense probably damaging 1.00
R6868:Scarb2 UTSW 5 92,633,168 (GRCm39) missense probably benign 0.05
R7000:Scarb2 UTSW 5 92,601,934 (GRCm39) missense probably benign 0.00
R7429:Scarb2 UTSW 5 92,633,093 (GRCm39) missense probably benign 0.03
X0067:Scarb2 UTSW 5 92,608,716 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTGCACACTGATCCCCTG -3'
(R):5'- GCCGTGACGTTGGTATAAGG -3'

Sequencing Primer
(F):5'- ACTCGGATGGCCACAGAG -3'
(R):5'- CAGGAAACACAGTGTAAACATTTAAC -3'
Posted On 2020-01-23