Incidental Mutation 'R5455:Dmrtc2'
ID432714
Institutional Source Beutler Lab
Gene Symbol Dmrtc2
Ensembl Gene ENSMUSG00000011349
Gene Namedoublesex and mab-3 related transcription factor like family C2
SynonymsDmrt7, 4933432E21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R5455 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location24870057-24877651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 24872491 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 4 (S4R)
Ref Sequence ENSEMBL: ENSMUSP00000011493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011493] [ENSMUST00000079306] [ENSMUST00000122995]
Predicted Effect probably benign
Transcript: ENSMUST00000011493
AA Change: S4R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349
AA Change: S4R

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,536,516 probably null Het
Adgrf1 T A 17: 43,321,143 probably null Het
Ascc3 T C 10: 50,849,583 V2134A probably benign Het
Cct6b T G 11: 82,755,117 I80L probably benign Het
Crebbp C A 16: 4,085,967 V1765L probably benign Het
Cul9 C T 17: 46,510,846 probably null Het
Cyp2c40 A G 19: 39,803,792 I236T possibly damaging Het
Dbndd2 C A 2: 164,490,193 T112K possibly damaging Het
Dnah6 C T 6: 73,075,734 V2988I probably benign Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Ercc3 T C 18: 32,267,209 S705P possibly damaging Het
Gm10306 T G 4: 94,556,840 probably benign Het
H2-Q6 T C 17: 35,424,884 L3P unknown Het
Kcnn4 T C 7: 24,377,553 S176P probably damaging Het
Maml2 T A 9: 13,705,743 Y128* probably null Het
Map2 G A 1: 66,399,391 E25K probably damaging Het
Morc2b T A 17: 33,138,610 M63L probably benign Het
Mthfd1 A G 12: 76,301,288 I569V probably benign Het
Myh8 G A 11: 67,301,418 R1399H possibly damaging Het
Nop2 T C 6: 125,140,643 I424T probably benign Het
Olfm5 T C 7: 104,154,462 R265G probably damaging Het
Olfr1352 C T 10: 78,984,537 S249F possibly damaging Het
Olfr1406 A G 1: 173,184,251 F61S probably damaging Het
Opalin T C 19: 41,069,953 T14A probably benign Het
Pced1b C A 15: 97,384,393 S104R probably benign Het
Pdia2 T G 17: 26,197,163 Q310P probably null Het
Ppil6 A G 10: 41,498,545 T141A probably benign Het
Prrc2b A G 2: 32,221,343 probably null Het
Stxbp5 A G 10: 9,808,508 S573P probably benign Het
Synpo2l C A 14: 20,662,292 A87S probably damaging Het
Tor1b GGACG GG 2: 30,956,945 probably benign Het
Vmn1r89 A T 7: 13,220,267 H121L probably benign Het
Vmn2r99 T A 17: 19,394,146 C709* probably null Het
Vstm4 A G 14: 32,863,878 H134R possibly damaging Het
Zan C T 5: 137,454,000 C1569Y unknown Het
Zdhhc13 A G 7: 48,805,575 T122A possibly damaging Het
Zpbp2 G T 11: 98,557,603 V249L probably benign Het
Other mutations in Dmrtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Dmrtc2 APN 7 24872576 missense probably damaging 1.00
IGL02122:Dmrtc2 APN 7 24872583 missense possibly damaging 0.71
IGL02469:Dmrtc2 APN 7 24872713 unclassified probably benign
R1173:Dmrtc2 UTSW 7 24874313 missense possibly damaging 0.94
R1775:Dmrtc2 UTSW 7 24874367 missense possibly damaging 0.57
R2167:Dmrtc2 UTSW 7 24873919 unclassified probably benign
R2924:Dmrtc2 UTSW 7 24872516 missense probably damaging 0.98
R3685:Dmrtc2 UTSW 7 24874262 missense probably benign
R4205:Dmrtc2 UTSW 7 24875806 nonsense probably null
Z31818:Dmrtc2 UTSW 7 24877158 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGAAGGATCTTAGTGTCGAATG -3'
(R):5'- ACTCGCAAGCCTGAAAGAGG -3'

Sequencing Primer
(F):5'- GAAGGATCTTAGTGTCGAATGAATAC -3'
(R):5'- AGGCAGAGGCGCTTGTGTC -3'
Posted On2016-10-06