Incidental Mutation 'IGL02602:Scarb2'
ID300112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scarb2
Ensembl Gene ENSMUSG00000029426
Gene Namescavenger receptor class B, member 2
SynonymsLIMP-2, 9330185J12Rik, Cd36l2, LIMP II, LGP85
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02602
Quality Score
Status
Chromosome5
Chromosomal Location92441314-92506833 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92448556 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 410 (Y410H)
Ref Sequence ENSEMBL: ENSMUSP00000031377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031377]
Predicted Effect probably benign
Transcript: ENSMUST00000031377
AA Change: Y410H

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: Y410H

DomainStartEndE-ValueType
Pfam:CD36 11 457 6.8e-154 PFAM
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 A G 11: 94,570,465 probably benign Het
Arhgap20 A T 9: 51,825,843 I148F probably damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cdk13 A G 13: 17,727,160 F997L probably damaging Het
Cep162 G A 9: 87,246,153 H170Y probably benign Het
Clasp1 T C 1: 118,471,785 F220L probably damaging Het
Clock C A 5: 76,254,426 G129V probably null Het
Clock C T 5: 76,254,427 G129R probably damaging Het
Cybrd1 T C 2: 71,118,148 L10P probably damaging Het
Cyp7a1 A G 4: 6,272,871 I114T possibly damaging Het
Epha7 T A 4: 28,871,877 V402D possibly damaging Het
Fam228a G A 12: 4,732,808 T95I probably benign Het
Gm7589 C T 9: 59,146,158 noncoding transcript Het
Klf4 C A 4: 55,530,595 R172L probably damaging Het
Macf1 A G 4: 123,355,163 S7190P probably damaging Het
Mga A G 2: 119,931,884 T1119A possibly damaging Het
Nmur2 T A 11: 56,027,063 T367S probably benign Het
Ogfr A G 2: 180,595,437 D605G possibly damaging Het
Olfr1314 A G 2: 112,092,561 F47L probably benign Het
Pcdhb1 A T 18: 37,266,796 N600I probably damaging Het
Pkhd1l1 T C 15: 44,557,931 S3032P probably damaging Het
Ppp2r5e A G 12: 75,493,439 L144P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Ryr2 T C 13: 11,554,511 probably benign Het
Slc12a1 A G 2: 125,154,242 Y105C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stt3b A T 9: 115,276,778 S210T probably damaging Het
Sulf2 T C 2: 166,081,300 H635R probably benign Het
Tmem167 C A 13: 90,104,380 R52S probably damaging Het
Tsga13 G A 6: 30,902,277 T167I possibly damaging Het
Txk T C 5: 72,707,720 R271G possibly damaging Het
Vmn1r191 T C 13: 22,179,465 K40E probably damaging Het
Vmn1r69 T A 7: 10,579,974 N277Y probably benign Het
Other mutations in Scarb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Scarb2 APN 5 92446344 missense probably damaging 1.00
IGL01743:Scarb2 APN 5 92460803 missense probably benign 0.01
IGL02182:Scarb2 APN 5 92454054 missense probably damaging 1.00
IGL03260:Scarb2 APN 5 92446437 missense probably damaging 1.00
scarab UTSW 5 92451346 critical splice donor site probably null
R1332:Scarb2 UTSW 5 92451346 critical splice donor site probably null
R1335:Scarb2 UTSW 5 92451346 critical splice donor site probably null
R1526:Scarb2 UTSW 5 92446341 missense possibly damaging 0.50
R1748:Scarb2 UTSW 5 92460836 missense probably damaging 1.00
R1779:Scarb2 UTSW 5 92448557 missense probably benign 0.13
R1928:Scarb2 UTSW 5 92444266 missense possibly damaging 0.50
R4952:Scarb2 UTSW 5 92454777 missense probably damaging 0.97
R5702:Scarb2 UTSW 5 92451396 missense probably damaging 1.00
R6868:Scarb2 UTSW 5 92485309 missense probably benign 0.05
R7000:Scarb2 UTSW 5 92454075 missense probably benign 0.00
R7429:Scarb2 UTSW 5 92485234 missense probably benign 0.03
R8038:Scarb2 UTSW 5 92451448 missense probably damaging 1.00
X0067:Scarb2 UTSW 5 92460857 missense probably benign
Posted On2015-04-16