Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Clu'

661770

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

068536-MU

Accession Numbers

Essential gene?

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

Stock #

R8681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66205932-66218996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66218406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

Ref Sequence

ENSEMBL: ENSMUSP00000022616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022616] [ENSMUST00000153460]

AlphaFold

Q06890

Predicted Effect

probably damaging
Transcript: ENSMUST00000022616
AA Change: V422A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022616
Gene: ENSMUSG00000022037
AA Change: V422A

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,231,908 (GRCm39)	V1347A	possibly damaging	Het
Adam32	G	A	8: 25,327,811 (GRCm39)	T750I	unknown	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Aebp1	A	G	11: 5,817,899 (GRCm39)	D438G	probably null	Het
Anks1b	T	A	10: 89,885,868 (GRCm39)	M188K	probably damaging	Het
Aopep	T	C	13: 63,338,373 (GRCm39)	F583S	probably damaging	Het
Arhgef18	A	G	8: 3,439,074 (GRCm39)	Y477C	unknown	Het
Cep112	T	C	11: 108,316,478 (GRCm39)		probably null	Het
Cntrl	T	C	2: 35,038,600 (GRCm39)	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,458,756 (GRCm39)	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,675,065 (GRCm39)	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,390,135 (GRCm39)	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,314,942 (GRCm39)	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Dcaf17	T	A	2: 70,886,913 (GRCm39)	Y67*	probably null	Het
Dll3	T	C	7: 27,994,270 (GRCm39)	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,265,830 (GRCm39)	F146L	probably benign	Het
Gm10118	C	T	10: 63,762,756 (GRCm39)	V61M	unknown	Het
Gm9611	T	C	14: 42,118,026 (GRCm39)	D102G		Het
Grik5	G	A	7: 24,709,897 (GRCm39)	A946V	probably benign	Het
Il17c	A	G	8: 123,150,207 (GRCm39)	D150G	possibly damaging	Het
Ino80e	A	G	7: 126,460,893 (GRCm39)	L22P	probably damaging	Het
Kcnh2	G	T	5: 24,536,981 (GRCm39)	T201K	probably benign	Het
Klrb1	A	C	6: 128,687,012 (GRCm39)	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,743,948 (GRCm39)	Q3737H	unknown	Het
Lemd3	T	C	10: 120,767,728 (GRCm39)	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,241,216 (GRCm39)	V51A	probably benign	Het
Lrrc25	G	A	8: 71,070,314 (GRCm39)	V32I	possibly damaging	Het
Mdh1b	T	A	1: 63,754,360 (GRCm39)	M403L	probably benign	Het
Mms19	G	A	19: 41,937,915 (GRCm39)	L765F	probably damaging	Het
Msx3	T	A	7: 139,628,900 (GRCm39)	T5S	probably benign	Het
Myh13	A	C	11: 67,242,960 (GRCm39)	I958L	possibly damaging	Het
Myo18b	T	A	5: 113,021,429 (GRCm39)		probably null	Het
Myo9a	G	A	9: 59,775,394 (GRCm39)	V1002I	probably benign	Het
Neb	T	C	2: 52,127,048 (GRCm39)	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,473,208 (GRCm39)	S216G	probably benign	Het
Odad1	A	G	7: 45,591,263 (GRCm39)	E246G	probably damaging	Het
Or11h7	A	T	14: 50,890,801 (GRCm39)	M36L	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pkp2	A	T	16: 16,048,545 (GRCm39)	M317L	probably benign	Het
Pogz	T	A	3: 94,768,234 (GRCm39)	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,735,519 (GRCm39)	D25Y	unknown	Het
Ptprf	T	C	4: 118,088,844 (GRCm39)	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,194,629 (GRCm39)	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510 (GRCm39)	D27V	probably damaging	Het
Slc44a4	A	G	17: 35,147,253 (GRCm39)	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,361,914 (GRCm39)	T302A	probably benign	Het
Spic	T	A	10: 88,511,847 (GRCm39)	K136N	possibly damaging	Het
Stk36	T	C	1: 74,661,392 (GRCm39)	L473P	probably damaging	Het
Syce1	G	A	7: 140,361,987 (GRCm39)	T32I	possibly damaging	Het
Tars2	G	A	3: 95,658,199 (GRCm39)	Q209*	probably null	Het
Tmem9b	A	G	7: 109,344,527 (GRCm39)	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,181,128 (GRCm39)	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,001,877 (GRCm39)	T54I	probably benign	Het
Zfp142	T	C	1: 74,610,747 (GRCm39)	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,139,482 (GRCm39)	T56A	possibly 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
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
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'- TGACAGATAACCCGCAGATC -3'
(R):5'- CCCAGAATGCATAGTCTGTTCC -3'

Sequencing Primer
(F):5'- GGCAGTTCCATATCCTTTGACAGAG -3'
(R):5'- CTTGTCTGGACTCCTGAGGAC -3'

Posted On

2021-03-08