Incidental Mutation 'R1724:Dazap2'
ID 191694
Institutional Source Beutler Lab
Gene Symbol Dazap2
Ensembl Gene ENSMUSG00000000346
Gene Name DAZ associated protein 2
Synonyms Gcap28, Prtb, Brbp, gt6-12
MMRRC Submission 039756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1724 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100513543-100518642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100515884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 71 (Y71N)
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: Y71N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000356
Gene: ENSMUSG00000000346
AA Change: Y71N

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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: ENSMUST00000230661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230384
Predicted Effect probably benign
Transcript: ENSMUST00000230517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230712
Meta Mutation Damage Score 0.8503 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 98% (50/51)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,881,306 (GRCm39) V761A probably benign Het
Arap1 G T 7: 101,049,733 (GRCm39) A1032S possibly damaging Het
Atg4d C T 9: 21,179,741 (GRCm39) H230Y probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bcdin3d T A 15: 99,368,561 (GRCm39) K213* probably null Het
Cep295nl T A 11: 118,223,854 (GRCm39) E330V probably benign Het
Col10a1 A G 10: 34,271,714 (GRCm39) Y562C probably damaging Het
Col9a2 G A 4: 120,911,099 (GRCm39) R578Q probably damaging Het
Creld1 A G 6: 113,461,535 (GRCm39) D85G possibly damaging Het
Cth A T 3: 157,619,364 (GRCm39) V153D probably damaging Het
Ddah1 A C 3: 145,597,261 (GRCm39) D269A probably damaging Het
Dhx9 A C 1: 153,334,234 (GRCm39) D975E probably benign Het
Erich3 T A 3: 154,467,964 (GRCm39) D805E possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Gabpb2 T C 3: 95,113,826 (GRCm39) D19G probably damaging Het
Gabrr1 T A 4: 33,161,651 (GRCm39) M325K probably damaging Het
Galntl5 T G 5: 25,425,120 (GRCm39) N379K possibly damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Gm5356 G A 8: 89,913,684 (GRCm39) noncoding transcript Het
Kifap3 C T 1: 163,610,666 (GRCm39) R49* probably null Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lce1l A T 3: 92,757,726 (GRCm39) V44E unknown Het
Lmbr1 T A 5: 29,566,081 (GRCm39) E48D probably benign Het
Nes C A 3: 87,884,748 (GRCm39) N958K probably benign Het
Nwd1 A C 8: 73,438,248 (GRCm39) H1432P probably damaging Het
Or2d2b G A 7: 106,705,409 (GRCm39) H220Y probably benign Het
Or52h9 T C 7: 104,202,435 (GRCm39) F103S probably damaging Het
Osgepl1 A G 1: 53,357,062 (GRCm39) T75A probably benign Het
Perm1 T C 4: 156,302,529 (GRCm39) S358P possibly damaging Het
Pramel14 C T 4: 143,720,002 (GRCm39) G121D probably benign Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Sdc4 G T 2: 164,273,206 (GRCm39) Q35K probably benign Het
Secisbp2 A G 13: 51,824,882 (GRCm39) S377G probably benign Het
Spag16 G C 1: 70,532,941 (GRCm39) G540A probably damaging Het
Sun1 T A 5: 139,221,480 (GRCm39) D517E probably benign Het
Taf3 A G 2: 9,957,177 (GRCm39) V177A probably benign Het
Thbs2 A G 17: 14,906,162 (GRCm39) L246P possibly damaging Het
Tle7 C A 8: 110,836,795 (GRCm39) T227N probably damaging Het
Trpm1 G T 7: 63,885,569 (GRCm39) G862* probably null Het
Trpm8 A T 1: 88,278,578 (GRCm39) T584S possibly damaging Het
Ythdc2 T C 18: 44,961,757 (GRCm39) S2P probably benign Het
Zc2hc1c G T 12: 85,336,586 (GRCm39) R81L probably benign Het
Zfp292 C A 4: 34,811,237 (GRCm39) L602F probably damaging Het
Other mutations in Dazap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Dazap2 UTSW 15 100,515,946 (GRCm39) nonsense probably null
R4273:Dazap2 UTSW 15 100,515,971 (GRCm39) missense probably damaging 1.00
R6251:Dazap2 UTSW 15 100,514,864 (GRCm39) missense possibly damaging 0.95
R7344:Dazap2 UTSW 15 100,514,824 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ACCAGTGTGTAATCTGCAAACACAAGAA -3'
(R):5'- GCAGTGGCACCAGCTCCAAA -3'

Sequencing Primer
(F):5'- accaaaccccatttccaaaac -3'
(R):5'- GCTCCAAATCTGGCACCTG -3'
Posted On 2014-05-14