Incidental Mutation 'IGL01482:Dennd2a'
ID 88670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd2a
Ensembl Gene ENSMUSG00000038456
Gene Name DENN domain containing 2A
Synonyms B930096L08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01482
Quality Score
Status
Chromosome 6
Chromosomal Location 39439312-39534801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39457243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 733 (H733R)
Ref Sequence ENSEMBL: ENSMUSP00000045367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036877]
AlphaFold Q8C4S8
Predicted Effect probably damaging
Transcript: ENSMUST00000036877
AA Change: H733R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: H733R

DomainStartEndE-ValueType
Blast:DENN 9 430 1e-149 BLAST
low complexity region 445 457 N/A INTRINSIC
low complexity region 508 520 N/A INTRINSIC
uDENN 554 646 2.06e-31 SMART
DENN 653 837 7.1e-76 SMART
dDENN 888 953 1.84e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202707
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,099,201 (GRCm39) D98V probably benign Het
Aatf G A 11: 84,361,536 (GRCm39) R356C possibly damaging Het
Abca15 A T 7: 119,981,969 (GRCm39) T1095S probably benign Het
Abca9 A G 11: 110,011,599 (GRCm39) F1148S probably benign Het
Adam12 G T 7: 133,569,577 (GRCm39) D299E probably damaging Het
Alyref A T 11: 120,486,762 (GRCm39) N166K possibly damaging Het
Atxn1 A T 13: 45,710,790 (GRCm39) I714N probably benign Het
Bves A G 10: 45,230,902 (GRCm39) E291G possibly damaging Het
Chrm2 A G 6: 36,500,692 (GRCm39) N183S possibly damaging Het
Erbb3 C T 10: 128,408,798 (GRCm39) G762S possibly damaging Het
Gm29326 A C 7: 29,260,136 (GRCm39) noncoding transcript Het
Itgb2l A T 16: 96,239,948 (GRCm39) L17Q probably damaging Het
Jade1 T A 3: 41,567,937 (GRCm39) D668E probably benign Het
Ksr1 G A 11: 78,927,409 (GRCm39) T308I probably damaging Het
Mfap4 A G 11: 61,378,583 (GRCm39) D177G probably damaging Het
Mmut C T 17: 41,267,162 (GRCm39) R579C probably damaging Het
Muc2 A T 7: 141,307,797 (GRCm39) I369F probably damaging Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nckap5 G T 1: 125,950,897 (GRCm39) S1598Y probably damaging Het
Nlrp10 T A 7: 108,526,159 (GRCm39) M60L probably benign Het
Nlrp12 T C 7: 3,283,790 (GRCm39) N739S possibly damaging Het
Or5p58 A C 7: 107,694,693 (GRCm39) V28G probably benign Het
Pappa A T 4: 65,074,271 (GRCm39) H275L probably benign Het
Plekhm2 A G 4: 141,357,340 (GRCm39) S711P probably damaging Het
Ptpn1 G A 2: 167,809,712 (GRCm39) V107M probably damaging Het
Ptprf G A 4: 118,069,651 (GRCm39) R1498C probably damaging Het
Rhobtb2 A G 14: 70,034,037 (GRCm39) I396T possibly damaging Het
Ryr1 A G 7: 28,751,762 (GRCm39) F3668S probably damaging Het
Serpinb6d T C 13: 33,855,346 (GRCm39) V340A probably benign Het
Silc1 T A 12: 27,191,893 (GRCm39) noncoding transcript Het
Spaca3 G T 11: 80,758,510 (GRCm39) V158L probably benign Het
Tdp1 A G 12: 99,857,639 (GRCm39) N66S probably benign Het
Tmem132d A T 5: 128,346,270 (GRCm39) I84N probably damaging Het
Uggt2 T A 14: 119,295,057 (GRCm39) D523V probably damaging Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Yeats2 C T 16: 20,041,671 (GRCm39) T1202I probably damaging Het
Other mutations in Dennd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:Dennd2a APN 6 39,500,070 (GRCm39) missense probably damaging 1.00
IGL02135:Dennd2a APN 6 39,457,205 (GRCm39) nonsense probably null
IGL02206:Dennd2a APN 6 39,500,383 (GRCm39) missense probably damaging 1.00
IGL02649:Dennd2a APN 6 39,447,290 (GRCm39) missense probably benign 0.11
IGL03057:Dennd2a APN 6 39,485,182 (GRCm39) missense probably damaging 0.98
R0310:Dennd2a UTSW 6 39,441,135 (GRCm39) splice site probably benign
R0326:Dennd2a UTSW 6 39,474,044 (GRCm39) missense probably damaging 1.00
R0360:Dennd2a UTSW 6 39,485,233 (GRCm39) missense probably benign 0.13
R0364:Dennd2a UTSW 6 39,485,233 (GRCm39) missense probably benign 0.13
R0394:Dennd2a UTSW 6 39,499,746 (GRCm39) missense possibly damaging 0.92
R0680:Dennd2a UTSW 6 39,459,996 (GRCm39) missense probably damaging 1.00
R1741:Dennd2a UTSW 6 39,470,091 (GRCm39) missense probably damaging 0.99
R1744:Dennd2a UTSW 6 39,457,185 (GRCm39) missense probably benign 0.26
R2070:Dennd2a UTSW 6 39,442,053 (GRCm39) missense probably damaging 1.00
R3833:Dennd2a UTSW 6 39,483,657 (GRCm39) missense probably damaging 0.98
R3833:Dennd2a UTSW 6 39,483,651 (GRCm39) missense probably damaging 0.97
R4120:Dennd2a UTSW 6 39,442,030 (GRCm39) missense probably damaging 0.99
R4583:Dennd2a UTSW 6 39,499,776 (GRCm39) missense probably damaging 1.00
R4842:Dennd2a UTSW 6 39,474,044 (GRCm39) missense probably damaging 1.00
R4887:Dennd2a UTSW 6 39,474,093 (GRCm39) missense probably benign 0.03
R4901:Dennd2a UTSW 6 39,499,621 (GRCm39) missense probably benign 0.00
R5065:Dennd2a UTSW 6 39,472,110 (GRCm39) critical splice donor site probably null
R5413:Dennd2a UTSW 6 39,441,227 (GRCm39) missense probably damaging 1.00
R6181:Dennd2a UTSW 6 39,462,554 (GRCm39) missense probably benign 0.14
R6239:Dennd2a UTSW 6 39,465,750 (GRCm39) missense probably damaging 1.00
R6360:Dennd2a UTSW 6 39,470,076 (GRCm39) missense probably benign 0.01
R7115:Dennd2a UTSW 6 39,483,645 (GRCm39) missense probably damaging 1.00
R7419:Dennd2a UTSW 6 39,500,397 (GRCm39) missense probably damaging 1.00
R7567:Dennd2a UTSW 6 39,499,743 (GRCm39) missense probably benign
R7587:Dennd2a UTSW 6 39,460,069 (GRCm39) missense probably damaging 1.00
R7662:Dennd2a UTSW 6 39,470,037 (GRCm39) missense probably benign 0.03
R7781:Dennd2a UTSW 6 39,470,000 (GRCm39) missense probably damaging 0.99
R7962:Dennd2a UTSW 6 39,457,207 (GRCm39) missense possibly damaging 0.91
R8683:Dennd2a UTSW 6 39,500,137 (GRCm39) nonsense probably null
R8961:Dennd2a UTSW 6 39,462,555 (GRCm39) missense probably damaging 0.96
R9424:Dennd2a UTSW 6 39,485,294 (GRCm39) nonsense probably null
R9765:Dennd2a UTSW 6 39,473,907 (GRCm39) critical splice donor site probably null
R9767:Dennd2a UTSW 6 39,483,709 (GRCm39) missense probably damaging 0.98
X0026:Dennd2a UTSW 6 39,485,301 (GRCm39) missense possibly damaging 0.61
Z1177:Dennd2a UTSW 6 39,500,408 (GRCm39) missense probably benign 0.38
Posted On 2013-11-18