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 067727-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 109835250-109840884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109837206 bp (GRCm39)
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

DomainStartEndE-ValueType
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: 92,866,993 (GRCm39) M682K probably benign Het
Ankdd1b T A 13: 96,591,374 (GRCm39) I42F possibly damaging Het
Ankrd6 C T 4: 32,810,215 (GRCm39) E489K probably benign Het
Arhgef28 A T 13: 98,187,517 (GRCm39) H259Q possibly damaging Het
Atosb T C 4: 43,034,751 (GRCm39) T323A probably benign Het
C3 T C 17: 57,527,973 (GRCm39) S749G probably benign Het
Celsr1 A G 15: 85,806,445 (GRCm39) S2338P probably benign Het
Ces2a A T 8: 105,463,998 (GRCm39) N210I probably damaging Het
Cuzd1 A T 7: 130,913,345 (GRCm39) V424D probably damaging Het
Cyp2j11 T A 4: 96,236,605 (GRCm39) H67L probably benign Het
Dennd5b A G 6: 148,922,115 (GRCm39) S800P probably damaging Het
Dpy19l1 T A 9: 24,386,686 (GRCm39) K9* probably null Het
Dsc2 T C 18: 20,165,576 (GRCm39) H843R possibly damaging Het
Dsg1b T A 18: 20,510,007 (GRCm39) F6I probably benign Het
Hck C T 2: 152,970,987 (GRCm39) A83V probably damaging Het
Hdc T C 2: 126,443,803 (GRCm39) E292G probably damaging Het
Ighv1-23 A G 12: 114,728,116 (GRCm39) L102P probably damaging Het
Kdm3b G A 18: 34,926,123 (GRCm39) V88M probably damaging Het
Kremen2 A G 17: 23,961,745 (GRCm39) V254A probably benign Het
Lrrc8e T A 8: 4,285,641 (GRCm39) I622N probably damaging Het
Megf8 A G 7: 25,046,917 (GRCm39) N1600S probably benign Het
Mical3 A G 6: 120,912,138 (GRCm39) I1907T probably damaging Het
Nr4a3 T A 4: 48,051,323 (GRCm39) Y26N probably damaging Het
Nrl T C 14: 55,758,163 (GRCm39) E188G probably damaging Het
Or4d1 A G 11: 87,804,985 (GRCm39) M249T possibly damaging Het
Or9e1 T A 11: 58,732,460 (GRCm39) D173E probably benign Het
Polr1a G A 6: 71,897,718 (GRCm39) E238K probably benign Het
Pramel26 A G 4: 143,537,380 (GRCm39) L317P probably damaging Het
Prr5 G C 15: 84,587,387 (GRCm39) *388S probably null Het
Rptor A G 11: 119,783,473 (GRCm39) T1156A probably benign Het
Slc9c1 T A 16: 45,398,227 (GRCm39) I664K probably damaging Het
Stn1 C A 19: 47,505,498 (GRCm39) R152L probably damaging Het
Syde2 T C 3: 145,721,496 (GRCm39) V1121A probably benign Het
Vmn1r158 T C 7: 22,489,487 (GRCm39) T241A probably damaging Het
Vmn1r209 C A 13: 22,990,643 (GRCm39) V16L probably benign Het
Wdr19 A G 5: 65,382,638 (GRCm39) E454G probably damaging Het
Zan C T 5: 137,392,726 (GRCm39) E4590K unknown Het
Zfp579 T G 7: 4,997,866 (GRCm39) H15P unknown Het
Zfp628 A G 7: 4,922,813 (GRCm39) N345S probably benign Het
Zfp944 T A 17: 22,558,705 (GRCm39) K181* probably null Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Dmrta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1490:Dmrta2 UTSW 4 109,837,072 (GRCm39) missense unknown
R7156:Dmrta2 UTSW 4 109,839,185 (GRCm39) missense probably damaging 0.98
R7259:Dmrta2 UTSW 4 109,839,104 (GRCm39) missense possibly damaging 0.94
R7476:Dmrta2 UTSW 4 109,839,222 (GRCm39) missense probably damaging 0.99
R9223:Dmrta2 UTSW 4 109,839,779 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTAGTGACTGTATTACCCTGAC -3'
(R):5'- ACAGCAATTGCAACTCGCG -3'

Sequencing Primer
(F):5'- CCTGACTCAGGTATCCCCAC -3'
(R):5'- ACCTGAGCCGCCATGAC -3'
Posted On 2020-09-02