Incidental Mutation 'R7344:Dazap2'
ID 570116
Institutional Source Beutler Lab
Gene Symbol Dazap2
Ensembl Gene ENSMUSG00000000346
Gene Name DAZ associated protein 2
Synonyms Gcap28, Prtb, Brbp, gt6-12
MMRRC Submission 045434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7344 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 100513543-100518642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100514824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 15 (V15E)
Ref Sequence ENSEMBL: ENSMUSP00000000356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000356] [ENSMUST00000066068] [ENSMUST00000172334] [ENSMUST00000229307] [ENSMUST00000229965] [ENSMUST00000230280] [ENSMUST00000230517]
AlphaFold Q9DCP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000000356
AA Change: V15E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000356
Gene: ENSMUSG00000000346
AA Change: V15E

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 probably benign
Transcript: ENSMUST00000229307
Predicted Effect probably benign
Transcript: ENSMUST00000229965
Predicted Effect probably benign
Transcript: ENSMUST00000230280
Predicted Effect probably benign
Transcript: ENSMUST00000230517
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A C 11: 58,182,273 (GRCm39) Y216S Het
Anpep G T 7: 79,488,398 (GRCm39) S477R possibly damaging Het
Atp7b T C 8: 22,487,515 (GRCm39) D1293G probably damaging Het
Caprin2 A G 6: 148,774,565 (GRCm39) V249A probably benign Het
Cep41 C T 6: 30,693,655 (GRCm39) R5K probably benign Het
Cyp2c23 A T 19: 44,010,176 (GRCm39) probably null Het
Ecpas A T 4: 58,824,770 (GRCm39) D1070E probably benign Het
Epha8 T A 4: 136,661,849 (GRCm39) H582L probably benign Het
Fam193a A G 5: 34,643,074 (GRCm39) T1513A possibly damaging Het
Fancd2 T C 6: 113,545,670 (GRCm39) V901A probably benign Het
Fbl T A 7: 27,878,360 (GRCm39) V284E probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Fbxw16 A G 9: 109,278,103 (GRCm39) V25A probably benign Het
Fcgbpl1 C T 7: 27,852,185 (GRCm39) T1236I possibly damaging Het
Fcgbpl1 T C 7: 27,839,704 (GRCm39) S506P possibly damaging Het
Gm11562 T G 11: 99,511,195 (GRCm39) T2P unknown Het
Gm17728 G T 17: 9,640,955 (GRCm39) G22W probably damaging Het
Gm30083 A G 14: 33,721,537 (GRCm39) Y190H probably benign Het
Gm6793 T A 8: 112,741,561 (GRCm39) D27V probably damaging Het
Gm7324 A G 14: 43,952,134 (GRCm39) D259G probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Ildr2 T A 1: 166,122,166 (GRCm39) V203E probably damaging Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Irx5 A G 8: 93,086,183 (GRCm39) T89A probably benign Het
Itga7 A G 10: 128,776,798 (GRCm39) N221S possibly damaging Het
Lpcat2 T C 8: 93,602,195 (GRCm39) W259R probably damaging Het
Lrrc8e C T 8: 4,284,815 (GRCm39) R347C probably damaging Het
Lyst T A 13: 13,881,140 (GRCm39) D2790E probably benign Het
Magi2 G A 5: 20,755,238 (GRCm39) R604Q probably benign Het
Mertk C A 2: 128,613,417 (GRCm39) H478N probably benign Het
Mical3 T A 6: 121,013,505 (GRCm39) K293* probably null Het
Nod2 T C 8: 89,387,210 (GRCm39) L168P probably damaging Het
Npnt T C 3: 132,614,100 (GRCm39) probably null Het
Or1x6 T G 11: 50,939,122 (GRCm39) F63V probably damaging Het
Or5af1 A T 11: 58,722,308 (GRCm39) E109D probably damaging Het
Or8b37 T C 9: 37,959,253 (GRCm39) M245T probably benign Het
Or9g4 A T 2: 85,505,275 (GRCm39) Y73* probably null Het
Plcd4 A T 1: 74,593,811 (GRCm39) D312V probably damaging Het
Prss58 A G 6: 40,872,399 (GRCm39) I208T probably damaging Het
Pus7l A G 15: 94,438,498 (GRCm39) S116P probably benign Het
Rcc1l A T 5: 134,205,276 (GRCm39) I93N probably benign Het
Rftn2 A C 1: 55,265,311 (GRCm39) Y36* probably null Het
Rp1l1 G A 14: 64,267,069 (GRCm39) R885Q probably benign Het
Rpgrip1 A T 14: 52,378,116 (GRCm39) D488V probably damaging Het
Sacs A G 14: 61,444,893 (GRCm39) Y2313C possibly damaging Het
Scrib T C 15: 75,921,107 (GRCm39) Y1332C probably damaging Het
Serpinb10 T C 1: 107,468,672 (GRCm39) V105A probably damaging Het
Slc35d1 A T 4: 103,070,243 (GRCm39) probably null Het
Slfn3 T C 11: 83,103,648 (GRCm39) V173A probably benign Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Stard9 A T 2: 120,535,167 (GRCm39) D3808V possibly damaging Het
Supt16 A T 14: 52,411,028 (GRCm39) V692D probably damaging Het
Tapt1 A T 5: 44,345,999 (GRCm39) V317E probably damaging Het
Vmn2r101 T C 17: 19,832,059 (GRCm39) I685T probably benign Het
Vmn2r92 A G 17: 18,387,513 (GRCm39) I173V probably benign Het
Vps54 T C 11: 21,224,999 (GRCm39) I165T probably damaging Het
Zswim4 G A 8: 84,950,327 (GRCm39) R628* probably null Het
Zzz3 T C 3: 152,157,736 (GRCm39) S770P probably damaging Het
Other mutations in Dazap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Dazap2 UTSW 15 100,515,946 (GRCm39) nonsense probably null
R1724:Dazap2 UTSW 15 100,515,884 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- CCTCTGCCTGTGTAAGTGTCTG -3'
(R):5'- CATCCTTCTGCTTGTGAAGTCAG -3'

Sequencing Primer
(F):5'- GTGAGTGTAGGTGCCCAC -3'
(R):5'- CTGCTTGTGAAGTCAGATTTGAAGAC -3'
Posted On 2019-09-13