Incidental Mutation 'R7591:Dennd2c'
ID 587393
Institutional Source Beutler Lab
Gene Symbol Dennd2c
Ensembl Gene ENSMUSG00000007379
Gene Name DENN domain containing 2C
Synonyms A930010I20Rik
MMRRC Submission 045638-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7591 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 103009954-103077054 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103040661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 309 (Y309N)
Ref Sequence ENSEMBL: ENSMUSP00000127187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172288] [ENSMUST00000173206]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000172288
AA Change: Y309N

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: Y309N

DomainStartEndE-ValueType
uDENN 481 571 1.01e-25 SMART
DENN 578 762 3.36e-77 SMART
dDENN 806 873 1.15e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173206
AA Change: Y309N

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: Y309N

DomainStartEndE-ValueType
uDENN 424 514 1.01e-25 SMART
DENN 521 705 3.36e-77 SMART
dDENN 749 816 1.15e-20 SMART
Meta Mutation Damage Score 0.1462 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccne2 T C 4: 11,201,393 (GRCm39) I307T probably benign Het
Chrm3 A T 13: 9,927,349 (GRCm39) C562* probably null Het
Cldn11 A T 3: 31,204,436 (GRCm39) E46D probably benign Het
Cyp4a14 A G 4: 115,347,157 (GRCm39) probably null Het
Dbh A G 2: 27,060,522 (GRCm39) T233A probably damaging Het
Dnttip2 T A 3: 122,070,117 (GRCm39) L444* probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epop A T 11: 97,519,158 (GRCm39) V317E probably damaging Het
Eppk1 T C 15: 75,991,797 (GRCm39) T1695A possibly damaging Het
Fam149a T A 8: 45,803,472 (GRCm39) I421F possibly damaging Het
Impa2 T C 18: 67,451,480 (GRCm39) L258P probably damaging Het
Itga1 G A 13: 115,119,315 (GRCm39) R855W probably damaging Het
Kcnh5 T C 12: 75,054,541 (GRCm39) T468A probably benign Het
Kif11 A G 19: 37,372,711 (GRCm39) K33R probably damaging Het
Lamb1 C A 12: 31,376,647 (GRCm39) A1657E probably damaging Het
Macc1 T C 12: 119,410,393 (GRCm39) V387A probably damaging Het
Nalcn T C 14: 123,561,297 (GRCm39) T734A probably benign Het
Nphp3 T C 9: 103,895,477 (GRCm39) probably null Het
Nutm2 A G 13: 50,627,903 (GRCm39) I461M probably damaging Het
Or14p1 T C 13: 65,292,462 (GRCm39) F130L probably benign Het
Or4p7 G A 2: 88,222,220 (GRCm39) V210M probably benign Het
Or4s2 A C 2: 88,473,811 (GRCm39) K233N probably damaging Het
Or5b112 A G 19: 13,319,619 (GRCm39) S166G probably benign Het
Pigo T C 4: 43,025,093 (GRCm39) N2S probably benign Het
Plcl1 A T 1: 55,736,608 (GRCm39) I650L probably benign Het
Ppcdc A T 9: 57,342,262 (GRCm39) V20D probably damaging Het
Pramel27 A T 4: 143,577,481 (GRCm39) I88L probably benign Het
Rhobtb2 A G 14: 70,037,190 (GRCm39) V78A possibly damaging Het
Rp1l1 T C 14: 64,263,558 (GRCm39) V226A probably damaging Het
Scrt1 C A 15: 76,403,694 (GRCm39) G99C probably damaging Het
Skint9 A T 4: 112,248,147 (GRCm39) I199N probably damaging Het
Slc5a4a T C 10: 75,983,501 (GRCm39) probably benign Het
Smad3 C T 9: 63,561,999 (GRCm39) W326* probably null Het
Spata18 A T 5: 73,829,759 (GRCm39) I305F Het
Spata31h1 C A 10: 82,128,046 (GRCm39) V1655F probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syne3 A G 12: 104,906,863 (GRCm39) probably null Het
Trim69 G A 2: 121,998,454 (GRCm39) R142Q probably benign Het
Vmn1r40 A T 6: 89,691,755 (GRCm39) I191F probably benign Het
Vmn2r16 T A 5: 109,510,223 (GRCm39) D535E probably damaging Het
Vwa5b2 A G 16: 20,420,317 (GRCm39) E742G probably damaging Het
Zfp442 A T 2: 150,250,092 (GRCm39) Y603* probably null Het
Zp1 T C 19: 10,896,835 (GRCm39) N68S probably damaging Het
Other mutations in Dennd2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Dennd2c APN 3 103,064,224 (GRCm39) missense probably damaging 1.00
IGL01791:Dennd2c APN 3 103,073,741 (GRCm39) missense probably benign 0.19
IGL02100:Dennd2c APN 3 103,060,991 (GRCm39) missense probably damaging 0.98
IGL02119:Dennd2c APN 3 103,044,559 (GRCm39) missense probably damaging 0.99
IGL02395:Dennd2c APN 3 103,065,081 (GRCm39) missense probably benign 0.00
IGL02631:Dennd2c APN 3 103,063,387 (GRCm39) missense possibly damaging 0.56
IGL02895:Dennd2c APN 3 103,044,519 (GRCm39) missense possibly damaging 0.76
convolution UTSW 3 103,063,423 (GRCm39) missense probably damaging 1.00
Resolution UTSW 3 103,040,661 (GRCm39) missense possibly damaging 0.51
R1749:Dennd2c UTSW 3 103,039,352 (GRCm39) missense possibly damaging 0.92
R1931:Dennd2c UTSW 3 103,040,568 (GRCm39) missense probably benign 0.32
R1964:Dennd2c UTSW 3 103,073,807 (GRCm39) missense probably damaging 1.00
R1972:Dennd2c UTSW 3 103,039,014 (GRCm39) missense probably benign 0.01
R1973:Dennd2c UTSW 3 103,039,014 (GRCm39) missense probably benign 0.01
R2025:Dennd2c UTSW 3 103,039,005 (GRCm39) missense possibly damaging 0.71
R2350:Dennd2c UTSW 3 103,039,317 (GRCm39) missense probably benign 0.00
R2373:Dennd2c UTSW 3 103,064,158 (GRCm39) missense probably damaging 0.99
R4555:Dennd2c UTSW 3 103,039,202 (GRCm39) missense probably benign 0.00
R4916:Dennd2c UTSW 3 103,039,140 (GRCm39) missense probably benign 0.00
R5560:Dennd2c UTSW 3 103,068,871 (GRCm39) missense probably damaging 1.00
R6291:Dennd2c UTSW 3 103,038,925 (GRCm39) nonsense probably null
R6395:Dennd2c UTSW 3 103,056,540 (GRCm39) critical splice donor site probably null
R6567:Dennd2c UTSW 3 103,039,335 (GRCm39) missense probably benign 0.02
R6681:Dennd2c UTSW 3 103,038,977 (GRCm39) missense probably benign 0.01
R7106:Dennd2c UTSW 3 103,038,893 (GRCm39) missense possibly damaging 0.82
R7162:Dennd2c UTSW 3 103,063,423 (GRCm39) missense probably damaging 1.00
R7514:Dennd2c UTSW 3 103,070,378 (GRCm39) missense probably benign 0.00
R7698:Dennd2c UTSW 3 103,072,359 (GRCm39) missense possibly damaging 0.65
R8069:Dennd2c UTSW 3 103,072,446 (GRCm39) missense probably damaging 1.00
R8086:Dennd2c UTSW 3 103,040,661 (GRCm39) missense possibly damaging 0.51
R8247:Dennd2c UTSW 3 103,059,637 (GRCm39) missense probably damaging 0.99
R8347:Dennd2c UTSW 3 103,065,025 (GRCm39) missense probably damaging 0.99
R8829:Dennd2c UTSW 3 103,059,720 (GRCm39) critical splice donor site probably null
R8832:Dennd2c UTSW 3 103,059,720 (GRCm39) critical splice donor site probably null
R9131:Dennd2c UTSW 3 103,065,031 (GRCm39) missense probably damaging 1.00
R9332:Dennd2c UTSW 3 103,038,877 (GRCm39) missense probably benign 0.01
R9350:Dennd2c UTSW 3 103,039,308 (GRCm39) missense possibly damaging 0.79
R9520:Dennd2c UTSW 3 103,044,484 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCCATCTTCATAATTTTACACACG -3'
(R):5'- CATCTGTAATGACATCCAGCTGTC -3'

Sequencing Primer
(F):5'- ACACACGTCTTTTCAATTTCTGTC -3'
(R):5'- AGCTGTCAATCTCACTCATGATG -3'
Posted On 2019-10-24