Mutagenetix > Incidental Mutation

Incidental Mutation 'R4120:Hspa2'

315292

Institutional Source

Beutler Lab

Gene Symbol

Hspa2

Ensembl Gene

ENSMUSG00000059970

Gene Name

heat shock protein 2

Synonyms

70kDa, Hsp70-2

MMRRC Submission

040993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76450950-76453712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76452008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 234 (E234G)

Ref Sequence

ENSEMBL: ENSMUSP00000151408 (fasta)

Gene Model

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

AlphaFold

P17156

Predicted Effect

probably damaging
Transcript: ENSMUST00000080449
AA Change: E234G

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

SMART Domains

Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: E234G

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

noncoding transcript
Transcript: ENSMUST00000180709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217797

Predicted Effect

probably damaging
Transcript: ENSMUST00000219555
AA Change: E234G

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

Meta Mutation Damage Score

0.7575

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,133,388 (GRCm39)	E1233*	probably null	Het
Afap1l1	T	C	18: 61,872,243 (GRCm39)	D526G	probably damaging	Het
Ago4	A	G	4: 126,390,600 (GRCm39)	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Arhgap40	A	G	2: 158,374,250 (GRCm39)	M222V	probably benign	Het
Asnsd1	A	G	1: 53,387,154 (GRCm39)	S158P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Col4a1	G	A	8: 11,256,263 (GRCm39)	P1535S	unknown	Het
Dennd2a	G	A	6: 39,442,030 (GRCm39)	R947C	probably damaging	Het
Dlg2	G	A	7: 91,614,846 (GRCm39)	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,244,812 (GRCm39)	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,275,137 (GRCm39)	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,006,466 (GRCm39)	V779A	probably benign	Het
Ehhadh	A	G	16: 21,581,934 (GRCm39)	S353P	probably benign	Het
Etv3	A	G	3: 87,443,589 (GRCm39)	D391G	probably benign	Het
Fastkd1	T	A	2: 69,537,654 (GRCm39)	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,748,852 (GRCm39)	Y375N	probably damaging	Het
Flvcr2	T	C	12: 85,832,903 (GRCm39)	S308P	probably benign	Het
Fyco1	T	C	9: 123,654,691 (GRCm39)	Y1065C	probably benign	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Gm17175	A	T	14: 51,810,534 (GRCm39)	I31N	probably damaging	Het
Gm6003	T	A	7: 32,864,976 (GRCm39)		noncoding transcript	Het
Gm9951	T	C	8: 34,522,993 (GRCm39)		noncoding transcript	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,639,584 (GRCm39)	Y1065*	probably null	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Map2	G	A	1: 66,455,063 (GRCm39)	A1318T	probably damaging	Het
Mas1	A	T	17: 13,061,233 (GRCm39)	N63K	probably damaging	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nav3	A	G	10: 109,739,605 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,133,359 (GRCm39)		noncoding transcript	Het
Oca2	A	T	7: 55,904,630 (GRCm39)	D32V	probably damaging	Het
Or51v8	T	C	7: 103,320,221 (GRCm39)	T6A	probably benign	Het
Or8b9	T	C	9: 37,766,705 (GRCm39)	L197S	possibly damaging	Het
Otub2	T	C	12: 103,370,489 (GRCm39)	V257A	probably damaging	Het
Pink1	G	A	4: 138,042,822 (GRCm39)	R461*	probably null	Het
Plxna2	T	C	1: 194,462,935 (GRCm39)	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,721,572 (GRCm39)	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,711,637 (GRCm39)	N107S	probably damaging	Het
Slc12a2	A	G	18: 58,032,427 (GRCm39)	M376V	possibly damaging	Het
Sp140l2	C	T	1: 85,237,542 (GRCm39)	V81M	possibly damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Stradb	T	A	1: 59,019,168 (GRCm39)	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,359,798 (GRCm39)	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,752,215 (GRCm39)	S753P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,778 (GRCm39)		noncoding transcript	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp936	A	G	7: 42,839,630 (GRCm39)	T366A	probably benign	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly 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
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
R9292:Hspa2	UTSW	12	76,452,047 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCAACGACTCGCAGCG -3'
(R):5'- CGAGTCGATCTCTATGCTGG -3'

Sequencing Primer
(F):5'- CAACGTGTTGCGCATCATCAATG -3'
(R):5'- GATCTCTATGCTGGCCTGCG -3'

Posted On

2015-05-14