Incidental Mutation 'R2332:Dnaja2'
ID 246473
Institutional Source Beutler Lab
Gene Symbol Dnaja2
Ensembl Gene ENSMUSG00000031701
Gene Name DnaJ heat shock protein family (Hsp40) member A2
Synonyms HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik
MMRRC Submission 040322-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R2332 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 86264262-86281973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86266765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 321 (R321C)
Ref Sequence ENSEMBL: ENSMUSP00000034138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034138]
AlphaFold Q9QYJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000034138
AA Change: R321C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: R321C

DomainStartEndE-ValueType
DnaJ 7 62 8.53e-31 SMART
low complexity region 70 83 N/A INTRINSIC
low complexity region 101 113 N/A INTRINSIC
Pfam:DnaJ_C 116 338 8.5e-36 PFAM
Pfam:DnaJ_CXXCXGXG 143 209 3.4e-18 PFAM
low complexity region 393 403 N/A INTRINSIC
Meta Mutation Damage Score 0.5261 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc T C 18: 34,450,112 (GRCm39) I2302T possibly damaging Het
Apoa4 G A 9: 46,153,653 (GRCm39) V85I probably benign Het
Banf1 C T 19: 5,415,058 (GRCm39) W84* probably null Het
Cdk13 A G 13: 17,893,280 (GRCm39) L627P probably damaging Het
Cep250 A G 2: 155,832,527 (GRCm39) E1483G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ddx60 A G 8: 62,490,125 (GRCm39) E1698G probably benign Het
Depdc1a C A 3: 159,229,503 (GRCm39) Q612K probably damaging Het
Fam186b T A 15: 99,178,309 (GRCm39) E339V probably benign Het
Fga T C 3: 82,938,704 (GRCm39) F360L probably damaging Het
Fut9 C T 4: 25,619,823 (GRCm39) W330* probably null Het
Ghr T C 15: 3,349,891 (GRCm39) N429S probably benign Het
Gm5444 A T 13: 4,883,624 (GRCm39) noncoding transcript Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hoxa5 T C 6: 52,179,659 (GRCm39) I239V probably damaging Het
Hps6 T C 19: 45,992,930 (GRCm39) V289A possibly damaging Het
Iqcb1 A G 16: 36,663,801 (GRCm39) N190D possibly damaging Het
Map3k13 G A 16: 21,717,427 (GRCm39) probably null Het
Or10ag53 T C 2: 87,083,217 (GRCm39) V312A possibly damaging Het
Or52d13 A G 7: 103,110,293 (GRCm39) Y41H probably damaging Het
Pacsin1 A G 17: 27,923,885 (GRCm39) E93G possibly damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,887,435 (GRCm39) E482D probably damaging Het
Rhobtb3 A G 13: 76,058,971 (GRCm39) S276P probably benign Het
Rimbp2 A G 5: 128,866,705 (GRCm39) V538A probably benign Het
Rmdn3 A T 2: 118,984,008 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Slc4a11 A T 2: 130,526,379 (GRCm39) V855D probably benign Het
Speer4f1 C A 5: 17,684,522 (GRCm39) N183K probably damaging Het
Sstr4 A T 2: 148,238,330 (GRCm39) N314Y probably damaging Het
Synj2 A G 17: 6,074,069 (GRCm39) K288E probably damaging Het
Trhde T A 10: 114,428,070 (GRCm39) N409Y probably damaging Het
Ttn A T 2: 76,611,483 (GRCm39) W15604R probably damaging Het
Ugdh C T 5: 65,584,827 (GRCm39) V32I possibly damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Vps13d G T 4: 144,875,256 (GRCm39) D1750E probably benign Het
Wdfy3 A G 5: 102,036,189 (GRCm39) probably benign Het
Wnt4 C A 4: 137,023,831 (GRCm39) T266K probably benign Het
Wtap C T 17: 13,186,425 (GRCm39) R374Q possibly damaging Het
Zfp322a A T 13: 23,541,494 (GRCm39) C83S probably damaging Het
Other mutations in Dnaja2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Dnaja2 APN 8 86,281,866 (GRCm39) missense probably damaging 0.98
IGL01479:Dnaja2 APN 8 86,280,580 (GRCm39) missense probably damaging 1.00
IGL01722:Dnaja2 APN 8 86,279,908 (GRCm39) missense probably benign 0.35
IGL01946:Dnaja2 APN 8 86,273,329 (GRCm39) missense probably damaging 1.00
IGL03310:Dnaja2 APN 8 86,275,534 (GRCm39) missense probably benign 0.00
R0689:Dnaja2 UTSW 8 86,273,347 (GRCm39) splice site probably benign
R1350:Dnaja2 UTSW 8 86,266,717 (GRCm39) missense probably damaging 1.00
R3105:Dnaja2 UTSW 8 86,281,857 (GRCm39) missense probably damaging 1.00
R3693:Dnaja2 UTSW 8 86,273,249 (GRCm39) missense probably damaging 0.99
R3787:Dnaja2 UTSW 8 86,267,015 (GRCm39) missense probably damaging 1.00
R4803:Dnaja2 UTSW 8 86,280,029 (GRCm39) missense probably damaging 1.00
R5109:Dnaja2 UTSW 8 86,279,887 (GRCm39) missense possibly damaging 0.51
R5428:Dnaja2 UTSW 8 86,266,804 (GRCm39) missense probably benign
R5576:Dnaja2 UTSW 8 86,266,033 (GRCm39) missense possibly damaging 0.95
R7055:Dnaja2 UTSW 8 86,275,303 (GRCm39) missense probably benign 0.00
R7385:Dnaja2 UTSW 8 86,265,982 (GRCm39) missense probably benign
R7662:Dnaja2 UTSW 8 86,265,905 (GRCm39) missense probably benign 0.17
R7693:Dnaja2 UTSW 8 86,266,939 (GRCm39) missense probably damaging 1.00
R8049:Dnaja2 UTSW 8 86,265,876 (GRCm39) missense possibly damaging 0.63
R9653:Dnaja2 UTSW 8 86,265,982 (GRCm39) missense probably benign
Z1177:Dnaja2 UTSW 8 86,266,700 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCACCATAGAGACTCTGTC -3'
(R):5'- GGTAAATGATTTCTTCTTACCCAGG -3'

Sequencing Primer
(F):5'- CATAACTGTGAGTTCTAGGCCAGC -3'
(R):5'- AATGATTTCTTCTTACCCAGGTTCTG -3'
Posted On 2014-10-30