Incidental Mutation 'R1526:Scarb2'
ID 167422
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 039566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1526 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92589170-92653516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92594200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 454 (T454M)
Ref Sequence ENSEMBL: ENSMUSP00000031377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031377]
AlphaFold O35114
Predicted Effect possibly damaging
Transcript: ENSMUST00000031377
AA Change: T454M

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: T454M

DomainStartEndE-ValueType
Pfam:CD36 11 457 6.8e-154 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 G T 12: 21,235,188 (GRCm39) A97S probably damaging Het
Brd10 T C 19: 29,712,545 (GRCm39) K785E probably damaging Het
C1qtnf1 A T 11: 118,334,616 (GRCm39) E32V possibly damaging Het
Ccdc81 A G 7: 89,525,081 (GRCm39) L500P probably damaging Het
Cdo1 T C 18: 46,861,130 (GRCm39) E27G probably benign Het
Ceacam5 G A 7: 17,484,620 (GRCm39) G454D probably damaging Het
Cemip T C 7: 83,600,648 (GRCm39) D991G probably damaging Het
Cep170 A C 1: 176,616,071 (GRCm39) I79S probably damaging Het
Cep19 A G 16: 31,926,039 (GRCm39) Q149R possibly damaging Het
Cideb A T 14: 55,992,619 (GRCm39) L99* probably null Het
Cntnap5a A G 1: 116,356,207 (GRCm39) N746S probably benign Het
Col12a1 T C 9: 79,564,080 (GRCm39) N1715S probably benign Het
Col3a1 T C 1: 45,360,848 (GRCm39) S93P unknown Het
Csmd3 C A 15: 47,449,028 (GRCm39) probably null Het
Disp3 T C 4: 148,344,373 (GRCm39) I510V probably benign Het
Drosha T A 15: 12,914,070 (GRCm39) V1115E probably damaging Het
Dzip3 A C 16: 48,757,369 (GRCm39) L888R probably damaging Het
Emx2 C A 19: 59,452,442 (GRCm39) A242E probably benign Het
Fto G A 8: 92,168,314 (GRCm39) E256K possibly damaging Het
Gabrb2 A C 11: 42,482,715 (GRCm39) Y191S possibly damaging Het
Gm6526 A T 14: 43,987,394 (GRCm39) H110L probably damaging Het
Grin3b T A 10: 79,810,436 (GRCm39) N647K probably damaging Het
Ifit2 T G 19: 34,550,602 (GRCm39) S47R probably benign Het
Il5ra A T 6: 106,712,781 (GRCm39) V244E possibly damaging Het
Inppl1 A G 7: 101,482,153 (GRCm39) L141P probably benign Het
Iws1 A G 18: 32,213,178 (GRCm39) D202G probably benign Het
Kctd4 A C 14: 76,200,523 (GRCm39) I165L probably benign Het
Lrch3 G A 16: 32,770,746 (GRCm39) C116Y probably damaging Het
Mettl25 T C 10: 105,668,844 (GRCm39) T93A possibly damaging Het
Mgat4d A G 8: 84,095,666 (GRCm39) I314V probably benign Het
Mrgprb4 A T 7: 47,848,159 (GRCm39) Y256* probably null Het
Myo9b G T 8: 71,808,408 (GRCm39) V1672L probably damaging Het
Nek1 C T 8: 61,502,975 (GRCm39) P449L probably benign Het
Nucb2 G A 7: 116,123,642 (GRCm39) probably null Het
Obscn T C 11: 58,919,412 (GRCm39) Y6864C probably damaging Het
Omt2b A T 9: 78,235,420 (GRCm39) probably benign Het
Or2y3 T A 17: 38,393,486 (GRCm39) I128F probably damaging Het
Or4p18 C T 2: 88,232,777 (GRCm39) C167Y probably damaging Het
Or5ac15 G A 16: 58,940,293 (GRCm39) L47F probably damaging Het
Or6c208 A G 10: 129,224,176 (GRCm39) K225E probably benign Het
Otogl G T 10: 107,705,387 (GRCm39) P647T probably damaging Het
Oxnad1 A G 14: 31,824,244 (GRCm39) D271G probably benign Het
Pbx3 T C 2: 34,261,776 (GRCm39) I53V probably damaging Het
Pds5b T A 5: 150,639,865 (GRCm39) probably null Het
Ppp4r3a A T 12: 101,007,000 (GRCm39) D810E probably damaging Het
Ptpro A T 6: 137,438,724 (GRCm39) D1189V probably damaging Het
Ryr3 T C 2: 112,492,002 (GRCm39) N3758S probably damaging Het
Sec23a A C 12: 59,032,972 (GRCm39) probably null Het
Spire2 C T 8: 124,095,502 (GRCm39) A535V probably benign Het
Svopl A T 6: 38,006,570 (GRCm39) F142L probably benign Het
Tas2r144 T C 6: 42,192,674 (GRCm39) I138T probably benign Het
Tbc1d15 A G 10: 115,039,135 (GRCm39) M535T probably benign Het
Tnfaip1 C T 11: 78,420,971 (GRCm39) V30M possibly damaging Het
Topaz1 T A 9: 122,625,108 (GRCm39) W1398R probably damaging Het
Tpo A G 12: 30,134,694 (GRCm39) S755P probably damaging Het
Ttn G T 2: 76,606,460 (GRCm39) S18116R probably damaging Het
Vmn2r78 A G 7: 86,571,465 (GRCm39) probably null Het
Wdr49 T A 3: 75,304,227 (GRCm39) K494M probably benign Het
Yeats2 A G 16: 20,024,836 (GRCm39) M697V probably damaging Het
Zfp407 G A 18: 84,579,158 (GRCm39) P652S possibly damaging Het
Zfp462 A G 4: 55,009,002 (GRCm39) M323V probably benign Het
Zfp629 G T 7: 127,209,931 (GRCm39) P626Q possibly damaging Het
Zfp804a A T 2: 82,088,532 (GRCm39) Y787F 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
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
R8038:Scarb2 UTSW 5 92,599,307 (GRCm39) missense probably damaging 1.00
X0067:Scarb2 UTSW 5 92,608,716 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTATACCAGCCCTGGAAACCACTC -3'
(R):5'- GTTTGAAATGAGCACACACGCACAC -3'

Sequencing Primer
(F):5'- GTCCATCTGCAACTGTGAAAATCAG -3'
(R):5'- CACGAGATAACTAGTCCTCAAGG -3'
Posted On 2014-04-13