Incidental Mutation 'R1417:Clu'
ID 159870
Institutional Source Beutler Lab
Gene Symbol Clu
Ensembl Gene ENSMUSG00000022037
Gene Name clusterin
Synonyms D14Ucla3, Sgp2, Sgp-2, Cli, ApoJ, testosterone repressed prostate message-2, SP-40, complement lysis inhibitor, Apolipoprotein J, Sugp-2
MMRRC Submission 039473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R1417 (G1)
Quality Score 195
Status Not validated
Chromosome 14
Chromosomal Location 66205932-66218996 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 66212420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 124 (Y124*)
Ref Sequence ENSEMBL: ENSMUSP00000121633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022616] [ENSMUST00000127387] [ENSMUST00000128539] [ENSMUST00000138191] [ENSMUST00000138665] [ENSMUST00000144619] [ENSMUST00000153460]
AlphaFold Q06890
Predicted Effect probably null
Transcript: ENSMUST00000022616
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000022616
Gene: ENSMUSG00000022037
AA Change: Y124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 226 9.93e-152 SMART
CLa 227 442 2.3e-156 SMART
Predicted Effect probably null
Transcript: ENSMUST00000127387
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000114720
Gene: ENSMUSG00000022037
AA Change: Y124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 226 9.93e-152 SMART
Predicted Effect probably null
Transcript: ENSMUST00000128539
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000121485
Gene: ENSMUSG00000022037
AA Change: Y124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 203 3.48e-124 SMART
Predicted Effect probably null
Transcript: ENSMUST00000138191
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000117555
Gene: ENSMUSG00000022037
AA Change: Y124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 225 2.18e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138665
Predicted Effect probably benign
Transcript: ENSMUST00000144619
SMART Domains Protein: ENSMUSP00000117953
Gene: ENSMUSG00000022037

DomainStartEndE-ValueType
low complexity region 92 100 N/A INTRINSIC
CLb 110 209 1.16e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153460
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000121633
Gene: ENSMUSG00000022037
AA Change: Y124*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 226 9.93e-152 SMART
Blast:CLa 227 265 2e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146990
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.8%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a secreted chaperone that can, under some stress conditions, also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. The encoded preproprotein undergoes proteolytic processing to generate a disulfide-linked heterodimeric mature protein comprised of alpha and beta subunits. Mice lacking the encoded protein exhibit increased severity of autoimmune myocarditis, faster progression of the acute inflammation to myocardial scarring and decreased brain injury following neonatal hypoxic-ischemic injury. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive renal glomerulopathy and increased severity of myosin-induced autoimmune myocarditis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 A G 16: 29,117,053 (GRCm39) V565A probably benign Het
Atp6v1b1 T C 6: 83,730,862 (GRCm39) S196P probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Cnnm1 A G 19: 43,458,162 (GRCm39) E658G probably benign Het
Dnah9 T C 11: 65,846,573 (GRCm39) E2913G probably damaging Het
Edc4 G A 8: 106,614,487 (GRCm39) probably null Het
Enox1 C T 14: 77,723,445 (GRCm39) probably benign Het
G6pc2 T C 2: 69,053,312 (GRCm39) V122A probably damaging Het
Galns T C 8: 123,311,652 (GRCm39) S453G possibly damaging Het
Gm12185 A C 11: 48,798,669 (GRCm39) V608G probably damaging Het
Hbq1a A G 11: 32,250,722 (GRCm39) D135G probably benign Het
Hspg2 A G 4: 137,244,947 (GRCm39) T891A probably benign Het
Ift172 T C 5: 31,413,993 (GRCm39) Y1445C probably damaging Het
Ipo8 C T 6: 148,719,550 (GRCm39) D132N probably benign Het
Klhl11 T C 11: 100,363,115 (GRCm39) E147G probably benign Het
Kmt2d A T 15: 98,764,311 (GRCm39) V41D probably damaging Het
Lrp1b T C 2: 40,894,653 (GRCm39) I2306V probably benign Het
Lrp5 A G 19: 3,636,425 (GRCm39) V1514A probably benign Het
Lrrtm2 A T 18: 35,347,011 (GRCm39) I97N probably damaging Het
Mtmr3 C A 11: 4,437,923 (GRCm39) V844L probably benign Het
Myh8 A G 11: 67,197,011 (GRCm39) E1832G probably damaging Het
Or4n5 T A 14: 50,133,020 (GRCm39) R80* probably null Het
Pcdhb16 A G 18: 37,611,180 (GRCm39) T47A probably benign Het
Pfkp T C 13: 6,655,755 (GRCm39) K293E probably benign Het
Phlpp2 G T 8: 110,667,313 (GRCm39) E1281* probably null Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Slc8a1 T G 17: 81,715,709 (GRCm39) M775L probably damaging Het
Stx12 A G 4: 132,587,853 (GRCm39) probably null Het
Syt11 A T 3: 88,669,289 (GRCm39) I201N probably damaging Het
Ttc21a A G 9: 119,783,327 (GRCm39) N543S probably damaging Het
Usf3 A G 16: 44,037,812 (GRCm39) N764S probably benign Het
Xylb A G 9: 119,193,606 (GRCm39) D100G probably benign Het
Zfp423 T C 8: 88,500,284 (GRCm39) probably null Het
Zkscan16 T C 4: 58,952,377 (GRCm39) V225A probably benign Het
Other mutations in Clu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Clu APN 14 66,213,037 (GRCm39) missense probably damaging 0.98
IGL01657:Clu APN 14 66,217,121 (GRCm39) missense possibly damaging 0.81
IGL02030:Clu APN 14 66,213,240 (GRCm39) missense probably benign 0.08
IGL02891:Clu APN 14 66,213,433 (GRCm39) missense probably damaging 0.96
IGL03163:Clu APN 14 66,217,235 (GRCm39) missense probably benign 0.06
R1378:Clu UTSW 14 66,212,350 (GRCm39) missense probably damaging 1.00
R1711:Clu UTSW 14 66,218,354 (GRCm39) missense possibly damaging 0.63
R2134:Clu UTSW 14 66,212,290 (GRCm39) critical splice acceptor site probably null
R2285:Clu UTSW 14 66,218,408 (GRCm39) missense probably benign 0.03
R2340:Clu UTSW 14 66,218,358 (GRCm39) missense probably damaging 0.99
R2508:Clu UTSW 14 66,212,452 (GRCm39) missense probably damaging 1.00
R4700:Clu UTSW 14 66,217,313 (GRCm39) missense probably benign 0.25
R4981:Clu UTSW 14 66,210,815 (GRCm39) missense probably damaging 0.97
R5062:Clu UTSW 14 66,217,177 (GRCm39) missense probably damaging 0.99
R5422:Clu UTSW 14 66,213,051 (GRCm39) missense probably damaging 0.99
R6389:Clu UTSW 14 66,208,771 (GRCm39) intron probably benign
R7009:Clu UTSW 14 66,209,281 (GRCm39) missense probably damaging 1.00
R8306:Clu UTSW 14 66,217,211 (GRCm39) missense probably damaging 1.00
R8681:Clu UTSW 14 66,218,406 (GRCm39) missense probably damaging 1.00
R9082:Clu UTSW 14 66,217,153 (GRCm39) missense probably damaging 1.00
R9614:Clu UTSW 14 66,208,851 (GRCm39) missense unknown
R9686:Clu UTSW 14 66,212,454 (GRCm39) missense probably damaging 1.00
X0025:Clu UTSW 14 66,209,263 (GRCm39) missense probably damaging 1.00
Z1088:Clu UTSW 14 66,214,362 (GRCm39) missense probably benign 0.00
Z1177:Clu UTSW 14 66,213,370 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCTTGTACTCAGATCGGGGAGAC -3'
(R):5'- AAATAGCCACTCCTGCTTAGCTGC -3'

Sequencing Primer
(F):5'- TGGAGGACACTAGGGATTCTGA -3'
(R):5'- TGAGTTCCAACCAAGTGAATCTC -3'
Posted On 2014-03-14