Incidental Mutation 'R8328:Dmrta2'
ID 644193
Institutional Source Beutler Lab
Gene Symbol Dmrta2
Ensembl Gene ENSMUSG00000047143
Gene Name doublesex and mab-3 related transcription factor like family A2
Synonyms Dmrt5
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R8328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 109978053-109983687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109980009 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 49 (L49F)
Ref Sequence ENSEMBL: ENSMUSP00000060441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061187]
AlphaFold A2A9A2
Predicted Effect unknown
Transcript: ENSMUST00000061187
AA Change: L49F
SMART Domains Protein: ENSMUSP00000060441
Gene: ENSMUSG00000047143
AA Change: L49F

low complexity region 8 60 N/A INTRINSIC
DM 65 118 3.44e-29 SMART
low complexity region 164 182 N/A INTRINSIC
low complexity region 202 217 N/A INTRINSIC
low complexity region 254 288 N/A INTRINSIC
Pfam:DMA 310 346 1.2e-23 PFAM
low complexity region 352 364 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit telencephalon hypoplasia, reduced cerebral cortex area, absent hippocampus, small olfactory bulb, disorganized medial cortex and decreased cortical neurons due to reduced proliferation of neuronal precursors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,890,012 M682K probably benign Het
Ankdd1b T A 13: 96,454,866 I42F possibly damaging Het
Ankrd6 C T 4: 32,810,215 E489K probably benign Het
Arhgef28 A T 13: 98,051,009 H259Q possibly damaging Het
C3 T C 17: 57,220,973 S749G probably benign Het
Celsr1 A G 15: 85,922,244 S2338P probably benign Het
Ces2a A T 8: 104,737,366 N210I probably damaging Het
Cuzd1 A T 7: 131,311,616 V424D probably damaging Het
Cyp2j11 T A 4: 96,348,368 H67L probably benign Het
Dennd5b A G 6: 149,020,617 S800P probably damaging Het
Dpy19l1 T A 9: 24,475,390 K9* probably null Het
Dsc2 T C 18: 20,032,519 H843R possibly damaging Het
Dsg1b T A 18: 20,376,950 F6I probably benign Het
Fam214b T C 4: 43,034,751 T323A probably benign Het
Gm13084 A G 4: 143,810,810 L317P probably damaging Het
Hck C T 2: 153,129,067 A83V probably damaging Het
Hdc T C 2: 126,601,883 E292G probably damaging Het
Ighv1-23 A G 12: 114,764,496 L102P probably damaging Het
Kdm3b G A 18: 34,793,070 V88M probably damaging Het
Kremen2 A G 17: 23,742,771 V254A probably benign Het
Lrrc8e T A 8: 4,235,641 I622N probably damaging Het
Megf8 A G 7: 25,347,492 N1600S probably benign Het
Mical3 A G 6: 120,935,177 I1907T probably damaging Het
Nr4a3 T A 4: 48,051,323 Y26N probably damaging Het
Nrl T C 14: 55,520,706 E188G probably damaging Het
Olfr311 T A 11: 58,841,634 D173E probably benign Het
Olfr464 A G 11: 87,914,159 M249T possibly damaging Het
Polr1a G A 6: 71,920,734 E238K probably benign Het
Prr5 G C 15: 84,703,186 *388S probably null Het
Rptor A G 11: 119,892,647 T1156A probably benign Het
Slc9c1 T A 16: 45,577,864 I664K probably damaging Het
Stn1 C A 19: 47,517,059 R152L probably damaging Het
Syde2 T C 3: 146,015,741 V1121A probably benign Het
Vmn1r158 T C 7: 22,790,062 T241A probably damaging Het
Vmn1r209 C A 13: 22,806,473 V16L probably benign Het
Wdr19 A G 5: 65,225,295 E454G probably damaging Het
Zan C T 5: 137,394,464 E4590K unknown Het
Zfp579 T G 7: 4,994,867 H15P unknown Het
Zfp628 A G 7: 4,919,814 N345S probably benign Het
Zfp944 T A 17: 22,339,724 K181* probably null Het
Zscan5b C T 7: 6,233,947 P232S possibly damaging Het
Other mutations in Dmrta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1490:Dmrta2 UTSW 4 109979875 missense unknown
R7156:Dmrta2 UTSW 4 109981988 missense probably damaging 0.98
R7259:Dmrta2 UTSW 4 109981907 missense possibly damaging 0.94
R7476:Dmrta2 UTSW 4 109982025 missense probably damaging 0.99
R9223:Dmrta2 UTSW 4 109982582 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-02