Incidental Mutation 'R4038:Hspa2'
ID 313804
Institutional Source Beutler Lab
Gene Symbol Hspa2
Ensembl Gene ENSMUSG00000059970
Gene Name heat shock protein 2
Synonyms 70kDa, Hsp70-2
MMRRC Submission 040965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4038 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76450950-76453712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76452542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 412 (V412A)
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: V412A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: V412A

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 damaging
Transcript: ENSMUST00000219555
AA Change: V412A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.5061 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ate1 A G 7: 130,106,495 (GRCm39) S282P probably damaging Het
Cacna1d T A 14: 29,788,040 (GRCm39) Q1610L probably damaging Het
Carmil2 C A 8: 106,422,039 (GRCm39) R1103S probably damaging Het
Clca3a1 T A 3: 144,460,994 (GRCm39) Y219F probably benign Het
Creb3l3 A G 10: 80,925,172 (GRCm39) V224A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Elp2 T A 18: 24,767,405 (GRCm39) W696R probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gm4787 A T 12: 81,425,132 (GRCm39) F342Y probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Gpr83 A G 9: 14,772,073 (GRCm39) I82V possibly damaging Het
Greb1l C T 18: 10,515,209 (GRCm39) T558I possibly damaging Het
Hnrnpul2 T A 19: 8,800,591 (GRCm39) probably benign Het
Iqcd T C 5: 120,740,587 (GRCm39) V306A probably damaging Het
Lmod3 T C 6: 97,225,275 (GRCm39) N182S probably benign Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Nfia C A 4: 97,909,074 (GRCm39) R277S probably damaging Het
Or9m2 T A 2: 87,821,262 (GRCm39) I269N possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptprf C T 4: 118,114,805 (GRCm39) R150H probably damaging Het
Sfmbt1 T G 14: 30,509,449 (GRCm39) D309E probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc28a2 C A 2: 122,284,996 (GRCm39) A328E probably benign Het
Ssc4d C A 5: 135,999,170 (GRCm39) W11L possibly damaging Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Tfap2c A T 2: 172,398,110 (GRCm39) S413C probably damaging Het
Unc13c A G 9: 73,441,188 (GRCm39) probably null Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Wiz T C 17: 32,578,198 (GRCm39) E429G probably damaging Het
Zer1 T C 2: 29,997,535 (GRCm39) N457S probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging 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
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
R9292:Hspa2 UTSW 12 76,452,047 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGAAGCTCCTGCAAG -3'
(R):5'- TCAAAGGTGACCTCGATCTGG -3'

Sequencing Primer
(F):5'- CTGCAAGATTTCTTCAACGGCAAG -3'
(R):5'- TGACCTCGATCTGGGGGAC -3'
Posted On 2015-04-30