Incidental Mutation 'R9103:Dennd2d'
ID 691798
Institutional Source Beutler Lab
Gene Symbol Dennd2d
Ensembl Gene ENSMUSG00000027901
Gene Name DENN domain containing 2D
Synonyms 2010308M01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R9103 (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 C at 106397684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 161 (Y161H)
Ref Sequence ENSEMBL: ENSMUSP00000138462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000149225] [ENSMUST00000183271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029508
AA Change: Y151H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: Y151H

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 benign
Transcript: ENSMUST00000149225
Predicted Effect
SMART Domains Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: Y161H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,558 (GRCm39) C458* probably null Het
Adgra2 G A 8: 27,603,436 (GRCm39) G407D probably damaging Het
Aox4 G A 1: 58,296,441 (GRCm39) G1046E probably damaging Het
Arhgap27 A G 11: 103,251,540 (GRCm39) Y63H probably damaging Het
Ascl3 A T 7: 109,327,127 (GRCm39) M64K probably benign Het
Cacna2d3 G A 14: 29,068,971 (GRCm39) T252I probably damaging Het
Capn7 A G 14: 31,091,732 (GRCm39) T710A probably benign Het
Carmil1 A G 13: 24,295,836 (GRCm39) C393R probably benign Het
Chd5 A C 4: 152,461,444 (GRCm39) E1215A possibly damaging Het
Cntnap1 A G 11: 101,072,094 (GRCm39) N449S probably benign Het
Cpz G A 5: 35,675,054 (GRCm39) S65L probably benign Het
Cyp2c68 T A 19: 39,727,625 (GRCm39) N118I possibly damaging Het
Ddx25 A T 9: 35,458,085 (GRCm39) F345I probably benign Het
Egfl8 C T 17: 34,833,210 (GRCm39) D179N probably benign Het
Eif2a A G 3: 58,452,461 (GRCm39) N174S Het
Farp1 C T 14: 121,509,104 (GRCm39) H643Y possibly damaging Het
Fat1 G T 8: 45,404,850 (GRCm39) V534L probably benign Het
Fbxo48 A G 11: 16,903,556 (GRCm39) T61A probably benign Het
Fnbp4 A G 2: 90,608,187 (GRCm39) T970A probably benign Het
Foxd1 T A 13: 98,491,763 (GRCm39) D212E possibly damaging Het
Fstl4 C A 11: 52,664,696 (GRCm39) H9N probably benign Het
Fyb1 A G 15: 6,673,232 (GRCm39) D622G possibly damaging Het
Gm4787 T A 12: 81,425,489 (GRCm39) H223L probably benign Het
Grin3a A G 4: 49,771,179 (GRCm39) V531A probably damaging Het
Gzmb T C 14: 56,498,622 (GRCm39) D42G probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hsd17b6 A G 10: 127,833,876 (GRCm39) W2R probably damaging Het
Hspa4l T C 3: 40,715,349 (GRCm39) probably null Het
Igtp A G 11: 58,097,726 (GRCm39) E299G Het
Klhl28 T C 12: 64,990,300 (GRCm39) D547G possibly damaging Het
Leng8 G C 7: 4,146,897 (GRCm39) R473P probably damaging Het
Lin37 T A 7: 30,257,055 (GRCm39) N53Y possibly damaging Het
Lrp1 G A 10: 127,430,979 (GRCm39) Q357* probably null Het
Lrrfip2 A T 9: 111,034,840 (GRCm39) K176N probably damaging Het
Ltbp4 A G 7: 27,028,186 (GRCm39) S390P unknown Het
Map3k2 G A 18: 32,353,625 (GRCm39) R465H possibly damaging Het
Mthfd1 T A 12: 76,350,517 (GRCm39) V665E probably damaging Het
Myh3 A T 11: 66,989,451 (GRCm39) I1524F probably benign Het
Myo1g A G 11: 6,466,153 (GRCm39) S339P possibly damaging Het
Nf1 A G 11: 79,450,332 (GRCm39) K506R probably damaging Het
Nudt21 A G 8: 94,746,321 (GRCm39) I225T probably benign Het
Or4c31 A G 2: 88,291,942 (GRCm39) K105R probably benign Het
Or56b1b A T 7: 108,164,780 (GRCm39) L74Q probably benign Het
Or5g9 T A 2: 85,552,527 (GRCm39) Y259* probably null Het
Or8b3 A G 9: 38,314,518 (GRCm39) Y116C probably damaging Het
Or8c18 A T 9: 38,203,969 (GRCm39) I243F probably damaging Het
Pax2 C T 19: 44,806,968 (GRCm39) T299I probably benign Het
Pde4dip C T 3: 97,749,044 (GRCm39) S99N probably damaging Het
Pdlim5 T A 3: 142,010,174 (GRCm39) H147L possibly damaging Het
Pfkfb3 T A 2: 11,487,381 (GRCm39) Y343F probably damaging Het
Phf10 A G 17: 15,174,382 (GRCm39) I232T probably damaging Het
Plcb3 C T 19: 6,936,288 (GRCm39) G745D probably benign Het
Pramel11 G A 4: 143,624,381 (GRCm39) L39F probably damaging Het
Recql C A 6: 142,322,515 (GRCm39) C129F possibly damaging Het
Rrp1 C T 10: 78,240,876 (GRCm39) D288N unknown Het
Samd4 T C 14: 47,254,066 (GRCm39) Y177H probably benign Het
Sim1 T A 10: 50,785,525 (GRCm39) M198K possibly damaging Het
Six4 T C 12: 73,155,964 (GRCm39) I334M probably damaging Het
Slc27a6 T C 18: 58,705,268 (GRCm39) S217P probably damaging Het
Slc2a4 T A 11: 69,836,218 (GRCm39) K264N probably benign Het
Slc8b1 A T 5: 120,670,939 (GRCm39) I476F probably benign Het
Smcp T C 3: 92,491,838 (GRCm39) D3G unknown Het
Tagap A T 17: 8,152,335 (GRCm39) M507L probably benign Het
Thap11 A G 8: 106,582,780 (GRCm39) E263G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Top3a T G 11: 60,654,253 (GRCm39) probably null Het
Ube2q2l T A 6: 136,378,011 (GRCm39) D273V probably benign Het
Vmn1r31 A G 6: 58,449,073 (GRCm39) V264A unknown Het
Vti1a A C 19: 55,316,865 (GRCm39) M81L probably benign Het
Wscd1 T C 11: 71,674,245 (GRCm39) probably null Het
Zfp595 T C 13: 67,464,676 (GRCm39) E532G probably damaging Het
Zranb1 T A 7: 132,584,167 (GRCm39) V539D probably damaging 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
R6239:Dennd2d UTSW 3 106,402,193 (GRCm39) missense probably damaging 1.00
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
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'- AACCATCATCTTTTGACTTTGGTG -3'
(R):5'- TCCTTGAAATAGGGTTGAGCC -3'

Sequencing Primer
(F):5'- ACTTTGGTGGCTGTTTTAATCCTTC -3'
(R):5'- ACCCAATATACTTGATGCTGGCTGG -3'
Posted On 2021-12-30