Incidental Mutation 'R2924:Dmrtc2'
ID 255661
Institutional Source Beutler Lab
Gene Symbol Dmrtc2
Ensembl Gene ENSMUSG00000011349
Gene Name doublesex and mab-3 related transcription factor like family C2
Synonyms Dmrt7, 4933432E21Rik
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 24569482-24577076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24571941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 12 (C12Y)
Ref Sequence ENSEMBL: ENSMUSP00000011493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011493] [ENSMUST00000079306] [ENSMUST00000122995]
AlphaFold Q8CGW9
Predicted Effect probably damaging
Transcript: ENSMUST00000011493
AA Change: C12Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349
AA Change: C12Y

DomainStartEndE-ValueType
DM 38 91 6.53e-21 SMART
low complexity region 163 189 N/A INTRINSIC
Pfam:DMRT-like 242 369 3.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079306
SMART Domains Protein: ENSMUSP00000078287
Gene: ENSMUSG00000062732

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPAR_LY6 142 233 7.5e-23 PFAM
low complexity region 237 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122995
SMART Domains Protein: ENSMUSP00000122913
Gene: ENSMUSG00000062732

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Males homozygous for a targeted allele are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Ddx50 A T 10: 62,463,373 (GRCm39) V440E probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Gm5478 A T 15: 101,552,229 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Il2rb T C 15: 78,376,049 (GRCm39) M1V probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Srd5a1 A G 13: 69,734,834 (GRCm39) S191P probably damaging Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Dmrtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Dmrtc2 APN 7 24,572,001 (GRCm39) missense probably damaging 1.00
IGL02122:Dmrtc2 APN 7 24,572,008 (GRCm39) missense possibly damaging 0.71
IGL02469:Dmrtc2 APN 7 24,572,138 (GRCm39) unclassified probably benign
R1173:Dmrtc2 UTSW 7 24,573,738 (GRCm39) missense possibly damaging 0.94
R1775:Dmrtc2 UTSW 7 24,573,792 (GRCm39) missense possibly damaging 0.57
R2167:Dmrtc2 UTSW 7 24,573,344 (GRCm39) unclassified probably benign
R3685:Dmrtc2 UTSW 7 24,573,687 (GRCm39) missense probably benign
R4205:Dmrtc2 UTSW 7 24,575,231 (GRCm39) nonsense probably null
R5455:Dmrtc2 UTSW 7 24,571,916 (GRCm39) missense probably benign 0.04
R9323:Dmrtc2 UTSW 7 24,572,341 (GRCm39) missense probably benign 0.02
Z31818:Dmrtc2 UTSW 7 24,576,583 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATACCCGAGCATGGCAAAGC -3'
(R):5'- CACTCGCAAGCCTGAAAGAG -3'

Sequencing Primer
(F):5'- GAAGGATCTTAGTGTCGAATGAATAC -3'
(R):5'- AGGCAGAGGCGCTTGTGTC -3'
Posted On 2014-12-29