Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Hspb2'

46534

Institutional Source

Beutler Lab

Gene Symbol

Hspb2

Ensembl Gene

ENSMUSG00000038086

Gene Name

heat shock protein 2

Synonyms

HSP27, 2810021G24Rik, 27kDa, MKBP

MMRRC Submission

038763-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50662378-50663654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50662664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 155 (T155K)

Ref Sequence

ENSEMBL: ENSMUSP00000042374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034562] [ENSMUST00000034564] [ENSMUST00000042790] [ENSMUST00000214609] [ENSMUST00000214962] [ENSMUST00000217475] [ENSMUST00000217159] [ENSMUST00000216755]

AlphaFold

Q99PR8

Predicted Effect

probably benign
Transcript: ENSMUST00000034562

SMART Domains

Protein: ENSMUSP00000034562
Gene: ENSMUSG00000032060

Domain	Start	End	E-Value	Type
Pfam:Crystallin	1	56	7.3e-32	PFAM
Pfam:HSP20	67	162	2.1e-27	PFAM
low complexity region	166	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000034564

SMART Domains

Protein: ENSMUSP00000034564
Gene: ENSMUSG00000032062

Domain	Start	End	E-Value	Type
Pfam:DUF4578	15	140	1.7e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042790
AA Change: T155K

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042374
Gene: ENSMUSG00000038086
AA Change: T155K

Domain	Start	End	E-Value	Type
Pfam:Crystallin	14	55	1.6e-8	PFAM
Pfam:HSP20	66	163	5.7e-19	PFAM
low complexity region	166	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214609

Predicted Effect

probably benign
Transcript: ENSMUST00000214962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216393

Predicted Effect

probably benign
Transcript: ENSMUST00000217475

Predicted Effect

probably benign
Transcript: ENSMUST00000217159
AA Change: T61K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000216755

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the heart exhibit reduced state 3 mitochondrial respiration and ATP production following transverse aortic constriction despite normal cardiac hypertrophic response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ccdc65	T	C	15: 98,618,930 (GRCm39)	V303A	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Myoc	T	C	1: 162,476,243 (GRCm39)	Y316H	probably damaging	Het
Nags	A	G	11: 102,037,805 (GRCm39)	D266G	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5b24	T	C	19: 12,912,624 (GRCm39)	V174A	possibly damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Pwp2	G	A	10: 78,018,520 (GRCm39)	S88L	probably benign	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		probably benign	Het

Other mutations in Hspb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2075:Hspb2	UTSW	9	50,662,646 (GRCm39)	missense	probably benign	0.31
R2169:Hspb2	UTSW	9	50,663,015 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TATGGAATCACCACGGGAGGTAGAC -3'
(R):5'- AGGCTCAGTGAAGGCAAGTTCCAG -3'

Sequencing Primer
(F):5'- CAGGGGATTCACTGGGTGC -3'
(R):5'- CTTTACCCCAGATGAGGTGAC -3'

Posted On

2013-06-11