Incidental Mutation 'R5492:Hspa2'
ID 432136
Institutional Source Beutler Lab
Gene Symbol Hspa2
Ensembl Gene ENSMUSG00000059970
Gene Name heat shock protein 2
Synonyms 70kDa, Hsp70-2
MMRRC Submission 043053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5492 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76450950-76453712 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 76451308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000151408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080449] [ENSMUST00000219555]
AlphaFold P17156
Predicted Effect probably null
Transcript: ENSMUST00000080449
AA Change: M1V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: M1V

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000219555
AA Change: M1V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 89.3%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Abcd2 A G 15: 91,073,176 (GRCm39) Y328H probably benign Het
Abcg4 T C 9: 44,189,355 (GRCm39) T381A probably benign Het
Adamts12 A G 15: 11,336,384 (GRCm39) N1490D probably benign Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Armc8 G T 9: 99,409,184 (GRCm39) C169* probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bsn G A 9: 107,989,714 (GRCm39) P2013S probably damaging Het
Cdc16 A G 8: 13,813,915 (GRCm39) probably null Het
Cmtr1 T A 17: 29,909,316 (GRCm39) F408L probably damaging Het
Col4a2 C T 8: 11,488,608 (GRCm39) R1104W possibly damaging Het
Drg2 A C 11: 60,352,422 (GRCm39) H208P probably damaging Het
Frem3 A T 8: 81,339,306 (GRCm39) D533V probably damaging Het
Gm9930 T A 10: 9,410,337 (GRCm39) noncoding transcript Het
Haus5 A G 7: 30,358,380 (GRCm39) V305A possibly damaging Het
Hint3 C A 10: 30,494,245 (GRCm39) R30L probably benign Het
Hltf T A 3: 20,152,231 (GRCm39) probably null Het
Hmcn2 T A 2: 31,310,318 (GRCm39) L3304Q probably benign Het
Htr5b T C 1: 121,455,387 (GRCm39) T178A possibly damaging Het
Ighv1-11 A G 12: 114,576,084 (GRCm39) S44P probably damaging Het
Larp1b C T 3: 40,924,334 (GRCm39) R104W probably damaging Het
Map3k2 A G 18: 32,361,189 (GRCm39) T550A probably damaging Het
Map4 T A 9: 109,881,450 (GRCm39) S105T possibly damaging Het
Mgam T C 6: 40,733,297 (GRCm39) C691R probably damaging Het
Mms19 A G 19: 41,944,270 (GRCm39) I310T possibly damaging Het
Myh2 A C 11: 67,071,701 (GRCm39) K506T probably benign Het
Ngdn T C 14: 55,260,509 (GRCm39) V239A probably benign Het
Plin1 G A 7: 79,375,460 (GRCm39) R151* probably null Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rdh16f2 G T 10: 127,702,623 (GRCm39) E67* probably null Het
Slc25a36 A C 9: 96,982,259 (GRCm39) C25W probably damaging Het
Stk31 G A 6: 49,375,177 (GRCm39) A49T probably damaging Het
Tigar T A 6: 127,066,167 (GRCm39) T124S possibly damaging Het
Tsn A G 1: 118,232,443 (GRCm39) V144A probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp943 T A 17: 22,212,056 (GRCm39) C381S probably damaging Het
Zfyve19 A T 2: 119,039,595 (GRCm39) probably benign Het
Other mutations in Hspa2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTCTGAGAGTTTCCAGCAGG -3'
(R):5'- TCATATCGGACTGCACTGTGG -3'

Sequencing Primer
(F):5'- AGTTTCCAGCAGGCAGGG -3'
(R):5'- GAACTTCCGTCCGATCAGC -3'
Posted On 2016-10-05