Mutagenetix > Incidental Mutation

Incidental Mutation 'R9292:Hspa2'

704345

Institutional Source

Beutler Lab

Gene Symbol

Hspa2

Ensembl Gene

ENSMUSG00000059970

Gene Name

heat shock protein 2

Synonyms

70kDa, Hsp70-2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76450950-76453712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76452047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 247 (E247G)

Ref Sequence

ENSEMBL: ENSMUSP00000079306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080449] [ENSMUST00000219555]

AlphaFold

P17156

Predicted Effect

probably damaging
Transcript: ENSMUST00000080449
AA Change: E247G

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

SMART Domains

Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: E247G

Domain	Start	End	E-Value	Type
Pfam:HSP70	7	615	5.8e-269	PFAM
Pfam:MreB_Mbl	117	383	8.5e-18	PFAM
low complexity region	616	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000219555
AA Change: E247G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit male sterility associated with lack of postmeiotic germ cells and markedly increased frequency of spermatocyte apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,862,843 (GRCm39)	T175I	probably benign	Het
Acat3	T	C	17: 13,146,255 (GRCm39)	T243A	probably benign	Het
Aebp1	C	A	11: 5,815,260 (GRCm39)	P264Q	possibly damaging	Het
Aldh1l1	T	C	6: 90,568,867 (GRCm39)	F723L	probably damaging	Het
Atp13a4	T	A	16: 29,241,500 (GRCm39)	I723F		Het
Bop1	T	C	15: 76,351,031 (GRCm39)	T97A	probably benign	Het
Casq1	T	C	1: 172,043,114 (GRCm39)	Y194C	probably damaging	Het
Cep250	G	A	2: 155,832,688 (GRCm39)	E1538K	probably damaging	Het
Col12a1	A	T	9: 79,585,805 (GRCm39)	V1218E	probably benign	Het
Coq10b	T	A	1: 55,110,868 (GRCm39)	M212K	probably damaging	Het
Dchs1	T	C	7: 105,403,120 (GRCm39)	T3141A	probably damaging	Het
Dnajc10	A	G	2: 80,176,916 (GRCm39)	T624A	probably benign	Het
Dock8	A	G	19: 25,160,995 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,416,775 (GRCm39)	V892E	probably damaging	Het
Eif4g3	A	G	4: 137,921,382 (GRCm39)	R1370G	possibly damaging	Het
Elmo1	T	G	13: 20,784,429 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,498,799 (GRCm39)	I225N	probably damaging	Het
Ermp1	C	A	19: 29,606,049 (GRCm39)	V422L	probably benign	Het
Fam124b	T	A	1: 80,191,221 (GRCm39)	H54L	probably benign	Het
Gabbr1	T	G	17: 37,366,784 (GRCm39)	I336S	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,692,037 (GRCm39)	F194S	probably damaging	Het
Gtf2a1	G	A	12: 91,534,964 (GRCm39)	Q189*	probably null	Het
Gtf3c1	T	C	7: 125,273,563 (GRCm39)		probably benign	Het
Lpar1	T	C	4: 58,486,558 (GRCm39)	R238G	probably benign	Het
Ltbp1	C	A	17: 75,583,436 (GRCm39)	S412Y	probably damaging	Het
Nup210	A	C	6: 91,051,235 (GRCm39)	S383A	possibly damaging	Het
Or10j3	C	T	1: 173,031,099 (GRCm39)	P59S	probably damaging	Het
Or11g2	T	C	14: 50,856,513 (GRCm39)	V278A	possibly damaging	Het
Or8b51	T	A	9: 38,569,071 (GRCm39)	N206Y	probably damaging	Het
Pah	T	A	10: 87,403,218 (GRCm39)	Y198N	probably damaging	Het
Pcdhga4	A	T	18: 37,819,713 (GRCm39)	I421L	probably benign	Het
Pde6b	T	C	5: 108,536,751 (GRCm39)	I149T	probably benign	Het
Peli3	G	A	19: 4,988,117 (GRCm39)	P81L	possibly damaging	Het
Pfdn5	T	C	15: 102,234,883 (GRCm39)	S30P	possibly damaging	Het
Plcb3	A	T	19: 6,942,042 (GRCm39)	L263Q	probably damaging	Het
Pld3	T	C	7: 27,238,879 (GRCm39)	M190V	probably benign	Het
Rab6a	A	G	7: 100,285,963 (GRCm39)	E186G	probably benign	Het
Ralyl	T	A	3: 14,172,312 (GRCm39)	D60E	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Scarf1	T	C	11: 75,406,006 (GRCm39)	Y97H	probably damaging	Het
Sf3a2	T	A	10: 80,640,560 (GRCm39)	V457E	unknown	Het
Sh2d4b	C	G	14: 40,537,914 (GRCm39)	E403Q	probably damaging	Het
Slc12a7	A	G	13: 73,932,707 (GRCm39)	E65G	possibly damaging	Het
Spink5	T	C	18: 44,148,075 (GRCm39)	V905A	possibly damaging	Het
Spred1	T	C	2: 117,005,832 (GRCm39)	F198S	probably benign	Het
St18	C	A	1: 6,898,106 (GRCm39)	T636K	probably benign	Het
Stag3	T	A	5: 138,299,712 (GRCm39)	D874E	probably benign	Het
Suco	T	C	1: 161,671,574 (GRCm39)	T502A	probably damaging	Het
Swt1	T	C	1: 151,278,787 (GRCm39)	I457V	probably benign	Het
Syne2	G	T	12: 75,997,823 (GRCm39)	C2266F	probably benign	Het
Tcirg1	T	C	19: 3,947,840 (GRCm39)	N532D	probably damaging	Het
Tfdp1	T	A	8: 13,420,580 (GRCm39)	N136K	probably benign	Het
Tmem245	T	C	4: 56,926,173 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,937,979 (GRCm39)	I190V	probably benign	Het
Trp53bp1	C	T	2: 121,046,177 (GRCm39)	V1208M	probably damaging	Het
Tulp1	T	A	17: 28,582,738 (GRCm39)	K137*	probably null	Het
Zfp534	A	T	4: 147,759,095 (GRCm39)	C525S	probably damaging	Het

Other mutations in Hspa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Hspa2	APN	12	76,453,123 (GRCm39)	missense	possibly damaging	0.94
IGL02946:Hspa2	APN	12	76,451,947 (GRCm39)	missense	probably damaging	0.99
R0504:Hspa2	UTSW	12	76,451,990 (GRCm39)	missense	probably damaging	1.00
R1191:Hspa2	UTSW	12	76,452,655 (GRCm39)	missense	probably damaging	1.00
R1204:Hspa2	UTSW	12	76,451,641 (GRCm39)	missense	probably benign
R1880:Hspa2	UTSW	12	76,452,694 (GRCm39)	missense	possibly damaging	0.72
R2234:Hspa2	UTSW	12	76,451,419 (GRCm39)	missense	possibly damaging	0.56
R2265:Hspa2	UTSW	12	76,452,962 (GRCm39)	missense	probably benign	0.05
R4036:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4037:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4038:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4039:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4120:Hspa2	UTSW	12	76,452,008 (GRCm39)	missense	probably damaging	1.00
R4673:Hspa2	UTSW	12	76,452,514 (GRCm39)	missense	possibly damaging	0.89
R4720:Hspa2	UTSW	12	76,451,639 (GRCm39)	missense	possibly damaging	0.77
R4948:Hspa2	UTSW	12	76,452,761 (GRCm39)	missense	probably damaging	1.00
R5492:Hspa2	UTSW	12	76,451,308 (GRCm39)	start codon destroyed	probably null	0.00
R6043:Hspa2	UTSW	12	76,453,096 (GRCm39)	missense	probably damaging	1.00
R7422:Hspa2	UTSW	12	76,452,884 (GRCm39)	missense	probably damaging	0.98
R7698:Hspa2	UTSW	12	76,452,083 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CTGGATAAGAAGGGCTGTGC -3'
(R):5'- CTTGTCTAGCTTGGCATCGC -3'

Sequencing Primer
(F):5'- CGGGCGGCGAGAAGAAC -3'
(R):5'- TTGAGCTCCTCGAAGCGG -3'

Posted On

2022-03-25