Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Clu'

386712

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

042652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66205932-66218996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 66217177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 337 (T337P)

Ref Sequence

ENSEMBL: ENSMUSP00000022616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022616] [ENSMUST00000127387] [ENSMUST00000128539] [ENSMUST00000138191] [ENSMUST00000138665] [ENSMUST00000144619] [ENSMUST00000153460]

AlphaFold

Q06890

Predicted Effect

probably damaging
Transcript: ENSMUST00000022616
AA Change: T337P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022616
Gene: ENSMUSG00000022037
AA Change: T337P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	92	100	N/A	INTRINSIC
CLb	110	209	1.16e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152903

Predicted Effect

probably benign
Transcript: ENSMUST00000153460

SMART Domains

Protein: ENSMUSP00000121633
Gene: ENSMUSG00000022037

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CLb	22	226	9.93e-152	SMART
Blast:CLa	227	265	2e-19	BLAST

Meta Mutation Damage Score

0.2296

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,067,892 (GRCm39)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,369,041 (GRCm39)	K173N	probably damaging	Het
Artn	A	T	4: 117,784,873 (GRCm39)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,655,775 (GRCm39)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,051,118 (GRCm39)	M420K	probably benign	Het
Bcam	T	A	7: 19,494,026 (GRCm39)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,246,206 (GRCm39)		probably benign	Het
Ccdc137	A	G	11: 120,353,341 (GRCm39)		probably benign	Het
Cd177	C	A	7: 24,443,741 (GRCm39)	A786S	probably benign	Het
Cdca4	T	C	12: 112,785,483 (GRCm39)	N82D	probably benign	Het
Col6a3	A	C	1: 90,707,074 (GRCm39)	I2013S	unknown	Het
Cpne9	T	A	6: 113,281,449 (GRCm39)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,897,161 (GRCm39)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,842,527 (GRCm39)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,233,236 (GRCm39)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,257,575 (GRCm39)	Y312S	probably damaging	Het
Fshr	A	T	17: 89,293,474 (GRCm39)	C401*	probably null	Het
Glyat	A	C	19: 12,627,627 (GRCm39)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,120,158 (GRCm39)		noncoding transcript	Het
Grm7	A	G	6: 110,623,097 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,662 (GRCm39)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Kctd3	A	C	1: 188,727,890 (GRCm39)		probably benign	Het
Klhl30	A	G	1: 91,283,300 (GRCm39)	T301A	probably benign	Het
Klra9	T	C	6: 130,156,072 (GRCm39)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,795,679 (GRCm39)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,010,053 (GRCm39)		probably null	Het
Limch1	C	T	5: 67,126,578 (GRCm39)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,377,528 (GRCm39)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,472,352 (GRCm39)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,507,603 (GRCm39)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,152,676 (GRCm39)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,243,334 (GRCm39)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,309,333 (GRCm39)	M1321T	probably damaging	Het
Neb	A	C	2: 52,170,513 (GRCm39)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,472,198 (GRCm39)	V64I	probably benign	Het
Nisch	T	A	14: 30,894,397 (GRCm39)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,135,335 (GRCm39)	R1009*	probably null	Het
Or12d13	A	T	17: 37,647,822 (GRCm39)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,364,894 (GRCm39)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,161,621 (GRCm39)		probably benign	Het
Pcm1	T	C	8: 41,712,297 (GRCm39)	V189A	probably damaging	Het
Peak1	G	T	9: 56,167,573 (GRCm39)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,235,655 (GRCm39)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,127,261 (GRCm39)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,655,935 (GRCm39)	C199W	probably benign	Het
Plat	A	G	8: 23,262,327 (GRCm39)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,821,526 (GRCm39)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,127,294 (GRCm39)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,715,240 (GRCm39)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,592,059 (GRCm39)		probably null	Het
Sharpin	T	C	15: 76,231,811 (GRCm39)		probably benign	Het
Slamf6	A	G	1: 171,764,100 (GRCm39)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,713,180 (GRCm39)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,015,201 (GRCm39)	Y46H	probably damaging	Het
Spns1	G	A	7: 125,973,501 (GRCm39)		probably benign	Het
Supt5	C	T	7: 28,028,440 (GRCm39)		probably null	Het
Tbx5	T	A	5: 119,974,987 (GRCm39)	D3E	probably damaging	Het
Thbs1	T	C	2: 117,951,718 (GRCm39)		probably null	Het
Tmem140	G	A	6: 34,849,897 (GRCm39)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,869,813 (GRCm39)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,649,848 (GRCm39)	D256G	probably damaging	Het
Tns1	A	T	1: 73,992,023 (GRCm39)	L885Q	probably damaging	Het
Umod	G	A	7: 119,071,644 (GRCm39)	Q366*	probably null	Het
Vsir	A	G	10: 60,200,042 (GRCm39)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,479,671 (GRCm39)	R616H	probably damaging	Het

Other mutations in Clu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AAGAGCTGATCTGTAGCCCTCC -3'
(R):5'- AGCCTCATCAAATGACTGGG -3'

Sequencing Primer
(F):5'- AAGAGTTCCTCTGCTTCAGATTG -3'
(R):5'- CTGGGATACAACTCACGGTG -3'

Posted On

2016-06-06