Incidental Mutation 'R4039:Hspa2'
ID 313857
Institutional Source Beutler Lab
Gene Symbol Hspa2
Ensembl Gene ENSMUSG00000059970
Gene Name heat shock protein 2
Synonyms 70kDa, Hsp70-2
MMRRC Submission 041614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4039 (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: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A T 15: 59,888,215 (GRCm39) L75Q possibly damaging Het
Cep290 T C 10: 100,348,263 (GRCm39) probably null Het
Col11a2 A G 17: 34,264,748 (GRCm39) T268A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Csn2 C T 5: 87,845,935 (GRCm39) M1I probably null Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Epn2 A G 11: 61,437,348 (GRCm39) Y75H probably damaging Het
Galnt3 A T 2: 65,915,671 (GRCm39) H563Q probably damaging Het
Galnt9 T C 5: 110,762,074 (GRCm39) V37A probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gorab A T 1: 163,224,635 (GRCm39) D55E possibly damaging Het
Herc2 G A 7: 55,806,159 (GRCm39) R2318Q probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Ly75 A G 2: 60,183,339 (GRCm39) L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 (GRCm39) L48P probably damaging Het
Mettl27 C T 5: 134,969,463 (GRCm39) Q212* probably null Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncam2 C T 16: 81,287,211 (GRCm39) S375L probably benign Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Parp9 T C 16: 35,780,417 (GRCm39) L461P probably damaging Het
Pcsk7 A G 9: 45,839,305 (GRCm39) probably null Het
Plekhh1 C A 12: 79,101,957 (GRCm39) H342Q probably benign Het
Prdm13 T G 4: 21,685,774 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptpn12 A T 5: 21,207,508 (GRCm39) Y283* probably null Het
Rab12 T C 17: 66,807,396 (GRCm39) Y111C possibly damaging Het
Ralgapa1 T C 12: 55,842,486 (GRCm39) N61S probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Sash1 G T 10: 8,605,391 (GRCm39) P1000T probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc12a5 A G 2: 164,834,250 (GRCm39) E757G probably benign Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Szt2 T C 4: 118,222,149 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,473,771 (GRCm39) T765A probably damaging Het
Tgfbr2 T C 9: 116,004,105 (GRCm39) M1V probably null Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Trim43b A G 9: 88,973,400 (GRCm39) L111P probably damaging Het
Ttbk2 A T 2: 120,576,276 (GRCm39) S900R probably benign Het
Unc79 G A 12: 103,041,208 (GRCm39) C747Y possibly damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Vmn2r115 A T 17: 23,564,077 (GRCm39) Y83F probably benign Het
Zfp536 A T 7: 37,268,975 (GRCm39) L147Q probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging Het
Zswim2 G A 2: 83,746,338 (GRCm39) H367Y probably 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
R4038: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'- TCCAGAAGCTCCTGCAAGATTTC -3'
(R):5'- TCAAAGGTGACCTCGATCTGG -3'

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