Incidental Mutation 'R4273:Dazap2'
ID 322295
Institutional Source Beutler Lab
Gene Symbol Dazap2
Ensembl Gene ENSMUSG00000000346
Gene Name DAZ associated protein 2
Synonyms Gcap28, Brbp, gt6-12, Prtb
MMRRC Submission 041645-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4273 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100615349-100620761 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100618090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 100 (P100T)
Ref Sequence ENSEMBL: ENSMUSP00000000356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000356] [ENSMUST00000066068] [ENSMUST00000172334] [ENSMUST00000229307] [ENSMUST00000229965] [ENSMUST00000230280] [ENSMUST00000230517]
AlphaFold Q9DCP9
Predicted Effect probably damaging
Transcript: ENSMUST00000000356
AA Change: P100T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000356
Gene: ENSMUSG00000000346
AA Change: P100T

low complexity region 6 18 N/A INTRINSIC
Pfam:DAZAP2 35 168 7.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066068
SMART Domains Protein: ENSMUSP00000066137
Gene: ENSMUSG00000053559

transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172334
SMART Domains Protein: ENSMUSP00000126870
Gene: ENSMUSG00000053559

transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181034
Predicted Effect probably benign
Transcript: ENSMUST00000229307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229424
Predicted Effect probably benign
Transcript: ENSMUST00000229965
Predicted Effect probably benign
Transcript: ENSMUST00000230280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230384
Predicted Effect probably benign
Transcript: ENSMUST00000230517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230712
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and do not exhibit motor coordination or balance defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,874,598 probably null Het
Adgrf2 T A 17: 42,710,122 T604S probably damaging Het
Akap8l T A 17: 32,321,931 K533* probably null Het
Appbp2 T C 11: 85,234,676 Y45C probably damaging Het
Arap2 T C 5: 62,670,979 I950V possibly damaging Het
Arhgap31 T C 16: 38,602,335 E1123G possibly damaging Het
Atp2c1 G T 9: 105,435,140 N493K probably benign Het
Bcr T C 10: 75,125,111 I458T probably damaging Het
Brd4 G A 17: 32,214,782 T468I probably benign Het
Cdh23 T A 10: 60,311,161 D2774V possibly damaging Het
Cfdp1 T C 8: 111,768,785 Y267C probably damaging Het
Chd6 C A 2: 160,961,291 A2156S probably benign Het
Disp1 T A 1: 183,087,644 I1071F possibly damaging Het
Dlgap1 T A 17: 70,766,043 S686T probably benign Het
Dst C T 1: 34,192,340 R3183C possibly damaging Het
Enpp4 T C 17: 44,101,807 N279D probably benign Het
Exoc3l T C 8: 105,289,961 *740W probably null Het
Exoc5 A T 14: 49,015,480 C625* probably null Het
Fam98b A T 2: 117,260,231 N137Y possibly damaging Het
Fat4 T A 3: 38,891,627 D1556E probably damaging Het
Fcer2a C A 8: 3,682,848 V319L possibly damaging Het
Fer1l6 T C 15: 58,627,522 V1247A probably benign Het
Fmo4 A G 1: 162,805,179 V201A probably damaging Het
Fras1 G A 5: 96,614,904 G755D probably benign Het
Gm13078 A T 4: 143,726,846 K175* probably null Het
Grid2 T C 6: 63,909,045 Y142H probably damaging Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ibtk T C 9: 85,726,731 Q376R probably damaging Het
Impdh2 T C 9: 108,564,956 M414T probably damaging Het
Itm2c A G 1: 85,907,029 T160A probably damaging Het
Kcna2 T A 3: 107,105,193 D363E probably benign Het
Lama2 C T 10: 27,347,054 C412Y probably damaging Het
Lims2 C G 18: 31,956,337 T151S probably benign Het
Mier1 T C 4: 103,162,431 S423P possibly damaging Het
Mrgpra3 A T 7: 47,589,432 W249R probably benign Het
Mtor A G 4: 148,550,152 H2410R probably benign Het
Mvp C T 7: 126,989,703 A631T probably benign Het
Nepro T C 16: 44,735,829 V450A possibly damaging Het
Ngrn T C 7: 80,264,521 V140A probably damaging Het
Nobox T C 6: 43,306,008 E231G probably benign Het
Olfr129 A T 17: 38,055,272 I98N probably damaging Het
P3h2 T A 16: 26,105,221 I155F probably benign Het
Pcdha3 C T 18: 36,948,091 R629C probably damaging Het
Riok3 AGAAGCGG AG 18: 12,135,941 probably benign Het
Rttn T C 18: 89,091,896 I1675T probably benign Het
Sall2 C A 14: 52,313,803 R643L probably damaging Het
Slc35f4 G T 14: 49,304,301 T182N possibly damaging Het
Slc52a3 T A 2: 152,005,740 I256N possibly damaging Het
Sox9 T C 11: 112,785,154 S390P possibly damaging Het
Tango2 T C 16: 18,302,790 probably benign Het
Tas1r1 T C 4: 152,032,157 E340G possibly damaging Het
Tek G A 4: 94,829,970 G524R probably damaging Het
Tmem260 A T 14: 48,505,304 Y532F probably benign Het
Tsks C A 7: 44,957,929 L559I probably damaging Het
Unc79 C A 12: 103,122,353 L1702I probably damaging Het
Vmn1r14 T A 6: 57,234,148 I237N probably damaging Het
Vmn2r17 G A 5: 109,452,966 C710Y probably benign Het
Zfp119b G T 17: 55,938,926 T420K possibly damaging Het
Zfp202 C T 9: 40,207,494 R68* probably null Het
Zfp229 T A 17: 21,746,821 S677R probably benign Het
Zfp462 C T 4: 55,008,411 H126Y probably benign Het
Zfp52 C A 17: 21,560,197 Y102* probably null Het
Zfp616 T A 11: 74,083,700 M265K probably benign Het
Zfyve9 A T 4: 108,680,976 I1031N probably damaging Het
Zmynd11 T C 13: 9,697,690 Y203C probably damaging Het
Other mutations in Dazap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Dazap2 UTSW 15 100618065 nonsense probably null
R1724:Dazap2 UTSW 15 100618003 missense probably damaging 0.99
R6251:Dazap2 UTSW 15 100616983 missense possibly damaging 0.95
R7344:Dazap2 UTSW 15 100616943 missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-20