Incidental Mutation 'R6239:Dennd2d'
ID 505104
Institutional Source Beutler Lab
Gene Symbol Dennd2d
Ensembl Gene ENSMUSG00000027901
Gene Name DENN domain containing 2D
Synonyms 2010308M01Rik
MMRRC Submission 044363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6239 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 106389745-106410346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106402193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 288 (F288I)
Ref Sequence ENSEMBL: ENSMUSP00000138462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000183271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029508
AA Change: F278I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: F278I

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
uDENN 47 139 4.15e-27 SMART
DENN 146 330 8.1e-71 SMART
dDENN 368 435 3.38e-18 SMART
low complexity region 447 461 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183271
AA Change: F288I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: F288I

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
uDENN 57 149 4.15e-27 SMART
DENN 156 340 8.1e-71 SMART
dDENN 378 445 3.38e-18 SMART
low complexity region 457 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195305
Meta Mutation Damage Score 0.9391 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T A 1: 78,674,182 (GRCm39) S373T probably benign Het
Aox1 G A 1: 58,344,550 (GRCm39) probably null Het
Apol7c T C 15: 77,410,631 (GRCm39) E105G probably benign Het
B4galnt2 C T 11: 95,767,065 (GRCm39) A184T probably damaging Het
Castor1 A G 11: 4,168,967 (GRCm39) T45A possibly damaging Het
Casz1 A G 4: 149,022,734 (GRCm39) Q600R probably damaging Het
Cep152 A T 2: 125,421,332 (GRCm39) S1133T probably benign Het
Cep295 T C 9: 15,233,927 (GRCm39) I2290V possibly damaging Het
Clmn A T 12: 104,747,104 (GRCm39) H814Q probably benign Het
Creb3l1 A G 2: 91,825,748 (GRCm39) C124R probably damaging Het
Cspg4 A G 9: 56,795,466 (GRCm39) D1067G probably benign Het
Cyp1a1 T A 9: 57,609,361 (GRCm39) V354E probably benign Het
Cyp2t4 A T 7: 26,856,900 (GRCm39) Q280L possibly damaging Het
Dcaf6 A T 1: 165,178,839 (GRCm39) D563E possibly damaging Het
Dennd2a A G 6: 39,465,750 (GRCm39) F607L probably damaging Het
Dnah8 C T 17: 31,029,333 (GRCm39) R4101C probably damaging Het
Dnai4 A C 4: 102,923,640 (GRCm39) N396K probably benign Het
Dnase2a G T 8: 85,635,508 (GRCm39) probably null Het
Dnmbp C T 19: 43,836,624 (GRCm39) V1235I probably benign Het
Eml6 T C 11: 29,699,275 (GRCm39) D1826G probably damaging Het
Fam186b T C 15: 99,178,315 (GRCm39) Y337C probably benign Het
Flg2 A T 3: 93,108,579 (GRCm39) E202D probably benign Het
Fus C T 7: 127,580,606 (GRCm39) R228C possibly damaging Het
Gbf1 A G 19: 46,248,135 (GRCm39) E304G probably benign Het
Ggt1 A G 10: 75,421,515 (GRCm39) probably null Het
Gm19410 A T 8: 36,245,918 (GRCm39) D354V probably damaging Het
Hdac4 T C 1: 91,982,694 (GRCm39) D8G probably benign Het
Hhat A T 1: 192,277,395 (GRCm39) Y355N probably damaging Het
Ift140 T C 17: 25,247,946 (GRCm39) V268A probably benign Het
Il4i1 A G 7: 44,489,836 (GRCm39) R542G probably benign Het
Itga2b C T 11: 102,356,144 (GRCm39) V328I possibly damaging Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Lrit3 A T 3: 129,593,995 (GRCm39) I194N probably damaging Het
Mast4 A G 13: 102,872,717 (GRCm39) L2025P probably benign Het
Neb T C 2: 52,164,000 (GRCm39) N1986S probably benign Het
Osbpl7 G A 11: 96,943,650 (GRCm39) probably null Het
Pabpc2 T A 18: 39,906,891 (GRCm39) L52Q probably damaging Het
Pald1 T C 10: 61,156,910 (GRCm39) S847G possibly damaging Het
Pcdh12 T C 18: 38,415,454 (GRCm39) D557G probably damaging Het
Prmt2 A T 10: 76,058,425 (GRCm39) L128* probably null Het
Ptpn3 C A 4: 57,249,981 (GRCm39) A172S probably benign Het
Ptpro A T 6: 137,357,606 (GRCm39) T366S probably benign Het
Reg4 A G 3: 98,138,600 (GRCm39) K100R probably null Het
Rims2 A T 15: 39,061,758 (GRCm39) M1L unknown Het
Sele A G 1: 163,878,377 (GRCm39) S239G probably damaging Het
Slc11a1 G A 1: 74,423,274 (GRCm39) R375Q possibly damaging Het
Slc13a3 T C 2: 165,248,617 (GRCm39) T554A unknown Het
Snw1 A T 12: 87,511,398 (GRCm39) N84K probably damaging Het
Stpg4 T C 17: 87,718,667 (GRCm39) Y171C probably benign Het
Styxl2 A T 1: 165,926,388 (GRCm39) S1075T probably damaging Het
Tmem222 T A 4: 132,995,606 (GRCm39) H147L probably damaging Het
Tmprss11f G T 5: 86,681,636 (GRCm39) R206S probably damaging Het
Trappc11 G A 8: 47,982,529 (GRCm39) T70M possibly damaging Het
Trpv4 G A 5: 114,782,887 (GRCm39) T25I probably benign Het
Ttr T C 18: 20,806,692 (GRCm39) V114A possibly damaging Het
Umod C T 7: 119,076,520 (GRCm39) C82Y probably damaging Het
Upk3a T A 15: 84,905,515 (GRCm39) M208K probably damaging Het
Vmn1r59 G A 7: 5,457,539 (GRCm39) P74S probably damaging Het
Vwa3a A T 7: 120,393,457 (GRCm39) R851S probably benign Het
Zfp236 G T 18: 82,675,229 (GRCm39) T421K possibly damaging Het
Zswim9 C A 7: 12,995,257 (GRCm39) G300* probably null Het
Other mutations in Dennd2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Dennd2d APN 3 106,407,861 (GRCm39) missense possibly damaging 0.45
IGL01397:Dennd2d APN 3 106,394,365 (GRCm39) critical splice donor site probably null 0.00
IGL01410:Dennd2d APN 3 106,398,542 (GRCm39) missense probably damaging 1.00
IGL02022:Dennd2d APN 3 106,407,220 (GRCm39) missense probably benign 0.00
IGL02032:Dennd2d APN 3 106,398,543 (GRCm39) missense probably damaging 1.00
IGL02309:Dennd2d APN 3 106,402,284 (GRCm39) missense probably benign
R0140:Dennd2d UTSW 3 106,399,799 (GRCm39) missense probably benign 0.08
R0648:Dennd2d UTSW 3 106,407,871 (GRCm39) missense probably damaging 0.97
R1519:Dennd2d UTSW 3 106,399,875 (GRCm39) missense probably damaging 1.00
R1539:Dennd2d UTSW 3 106,394,236 (GRCm39) missense probably benign 0.00
R1652:Dennd2d UTSW 3 106,394,317 (GRCm39) missense probably benign 0.00
R1674:Dennd2d UTSW 3 106,399,833 (GRCm39) missense probably benign 0.17
R2179:Dennd2d UTSW 3 106,399,776 (GRCm39) missense probably benign 0.00
R3731:Dennd2d UTSW 3 106,407,271 (GRCm39) missense probably damaging 1.00
R4077:Dennd2d UTSW 3 106,389,939 (GRCm39) unclassified probably benign
R4134:Dennd2d UTSW 3 106,389,977 (GRCm39) missense probably benign 0.34
R4135:Dennd2d UTSW 3 106,389,977 (GRCm39) missense probably benign 0.34
R5214:Dennd2d UTSW 3 106,393,637 (GRCm39) critical splice donor site probably null
R5767:Dennd2d UTSW 3 106,395,131 (GRCm39) intron probably benign
R6001:Dennd2d UTSW 3 106,399,776 (GRCm39) missense probably benign 0.00
R7312:Dennd2d UTSW 3 106,398,579 (GRCm39) missense probably benign 0.38
R7593:Dennd2d UTSW 3 106,407,244 (GRCm39) missense probably damaging 1.00
R8841:Dennd2d UTSW 3 106,393,580 (GRCm39) missense probably benign
R9103:Dennd2d UTSW 3 106,397,684 (GRCm39) missense
R9341:Dennd2d UTSW 3 106,397,730 (GRCm39) critical splice donor site probably null
R9343:Dennd2d UTSW 3 106,397,730 (GRCm39) critical splice donor site probably null
R9388:Dennd2d UTSW 3 106,395,915 (GRCm39) missense possibly damaging 0.93
Z1088:Dennd2d UTSW 3 106,407,190 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAGCTCTGTGATCAGCGTG -3'
(R):5'- CCTTATCTCTAGCAACTGAAGACAC -3'

Sequencing Primer
(F):5'- TGATCAGCGTGGCTTCCAGAC -3'
(R):5'- CACAGTTACTGACAGCAGAGCTG -3'
Posted On 2018-02-28