Incidental Mutation 'R3731:Dennd2d'
ID 270973
Institutional Source Beutler Lab
Gene Symbol Dennd2d
Ensembl Gene ENSMUSG00000027901
Gene Name DENN domain containing 2D
Synonyms 2010308M01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R3731 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 106389745-106410346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 106407271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 441 (F441V)
Ref Sequence ENSEMBL: ENSMUSP00000138462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000183271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029508
AA Change: F431V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: F431V

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: ENSMUST00000039153
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 229 6.4e-23 PFAM
transmembrane domain 249 271 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
transmembrane domain 316 338 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061206
AA Change: F434V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: F434V

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
uDENN 50 142 4.15e-27 SMART
DENN 149 333 8.1e-71 SMART
dDENN 371 438 3.38e-18 SMART
low complexity region 450 464 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068301
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 328 3.2e-21 PFAM
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121231
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 83 158 7.4e-18 PFAM
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183271
AA Change: F441V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: F441V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,427,485 (GRCm39) probably null Het
Abcc5 A T 16: 20,217,684 (GRCm39) Y5* probably null Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adar T C 3: 89,653,962 (GRCm39) I325T probably damaging Het
Akap13 T C 7: 75,261,125 (GRCm39) S92P probably benign Het
Atp1a4 A T 1: 172,061,528 (GRCm39) V771E probably damaging Het
Cfh A G 1: 140,047,708 (GRCm39) S492P possibly damaging Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Dhx33 T C 11: 70,879,978 (GRCm39) D344G probably benign Het
Disp3 A G 4: 148,337,284 (GRCm39) S844P probably benign Het
Dock2 T C 11: 34,599,722 (GRCm39) K286E probably damaging Het
Fam228a T C 12: 4,768,671 (GRCm39) E203G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Frmpd4 G A X: 166,269,803 (GRCm39) T493M probably damaging Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hrob A G 11: 102,148,732 (GRCm39) E381G possibly damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Ints4 A G 7: 97,155,308 (GRCm39) Q320R probably benign Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Loxl3 T C 6: 83,027,652 (GRCm39) probably null Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Manba G A 3: 135,260,611 (GRCm39) V599I probably benign Het
Mbd6 A G 10: 127,121,637 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nepn A T 10: 52,280,110 (GRCm39) N401Y probably damaging Het
Nol10 A T 12: 17,474,674 (GRCm39) K622I probably benign Het
Npas3 T C 12: 53,401,175 (GRCm39) I40T probably benign Het
Or1e29 T C 11: 73,667,565 (GRCm39) E196G probably benign Het
Or1j19 A T 2: 36,676,578 (GRCm39) I14F possibly damaging Het
Or2d4 T A 7: 106,543,684 (GRCm39) N175Y probably damaging Het
Or4n4b T A 14: 50,535,962 (GRCm39) D268V probably damaging Het
Or5p73 T C 7: 108,064,633 (GRCm39) I34T possibly damaging Het
Or8g33 T A 9: 39,338,365 (GRCm39) M1L probably benign Het
Phtf1 A G 3: 103,893,095 (GRCm39) M120V probably benign Het
Plxna2 A G 1: 194,471,193 (GRCm39) Y988C probably benign Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Sec24b T C 3: 129,827,482 (GRCm39) K203R possibly damaging Het
Serpina1d T A 12: 103,734,164 (GRCm39) N47Y possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sirpb1c T C 3: 15,887,287 (GRCm39) K184R probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Upp2 T C 2: 58,645,379 (GRCm39) S41P probably benign Het
Vmn1r10 A G 6: 57,090,719 (GRCm39) T104A probably damaging Het
Wdhd1 A C 14: 47,485,349 (GRCm39) S838R possibly damaging Het
Zer1 A G 2: 30,000,923 (GRCm39) V166A probably benign Het
Zfp217 T C 2: 169,956,308 (GRCm39) N897D probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H 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
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
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'- TGTTTCAGGCCCTTTTGTACAG -3'
(R):5'- ACCCTCACTGATGGAAGTTACAAC -3'

Sequencing Primer
(F):5'- ACAGTTCTTTGTCAAGACTGTGG -3'
(R):5'- CTCACTGATGGAAGTTACAACTGTTG -3'
Posted On 2015-03-18