Incidental Mutation 'R6389:Clu'
ID 515711
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 044538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 66205932-66218996 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to C at 66208771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000022616
SMART Domains Protein: ENSMUSP00000022616
Gene: ENSMUSG00000022037

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 benign
Transcript: ENSMUST00000127387
SMART Domains Protein: ENSMUSP00000114720
Gene: ENSMUSG00000022037

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

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

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLb 22 225 2.18e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138665
Predicted Effect unknown
Transcript: ENSMUST00000144619
AA Change: R5S
SMART Domains Protein: ENSMUSP00000117953
Gene: ENSMUSG00000022037
AA Change: R5S

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

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: ENSMUST00000146990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152903
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably damaging 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
R1417:Clu UTSW 14 66,212,420 (GRCm39) nonsense probably null
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
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'- AATCCATACTCAGCCTGGTGG -3'
(R):5'- ACCCCTTCTATAGACACTGGAG -3'

Sequencing Primer
(F):5'- CTGGTGGCACAAGCGTTG -3'
(R):5'- TGGGAAGAACCATGGCCC -3'
Posted On 2018-05-04