Incidental Mutation 'IGL02302:Dennd2b'
ID 287412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd2b
Ensembl Gene ENSMUSG00000031024
Gene Name DENN domain containing 2B
Synonyms Denn2b, 2610305K15Rik, St5, 2010004M01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # IGL02302
Quality Score
Status
Chromosome 7
Chromosomal Location 109123118-109302812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109124538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1101 (V1101A)
Ref Sequence ENSEMBL: ENSMUSP00000078264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000143107] [ENSMUST00000168005] [ENSMUST00000156921]
AlphaFold Q924W7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000053298
Predicted Effect probably damaging
Transcript: ENSMUST00000077909
AA Change: V1101A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: V1101A

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 314 326 N/A INTRINSIC
low complexity region 327 348 N/A INTRINSIC
low complexity region 365 379 N/A INTRINSIC
low complexity region 407 426 N/A INTRINSIC
low complexity region 577 609 N/A INTRINSIC
low complexity region 624 638 N/A INTRINSIC
low complexity region 645 656 N/A INTRINSIC
uDENN 690 781 1.16e-30 SMART
DENN 788 972 7.84e-78 SMART
low complexity region 1007 1014 N/A INTRINSIC
dDENN 1019 1086 3.12e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000079282
AA Change: V1101A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: V1101A

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 314 326 N/A INTRINSIC
low complexity region 327 348 N/A INTRINSIC
low complexity region 365 379 N/A INTRINSIC
low complexity region 407 426 N/A INTRINSIC
low complexity region 577 609 N/A INTRINSIC
low complexity region 624 638 N/A INTRINSIC
low complexity region 645 656 N/A INTRINSIC
uDENN 690 781 1.16e-30 SMART
DENN 788 972 7.84e-78 SMART
low complexity region 1007 1014 N/A INTRINSIC
dDENN 1019 1086 3.12e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084738
AA Change: V684A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: V684A

DomainStartEndE-ValueType
low complexity region 160 192 N/A INTRINSIC
low complexity region 207 221 N/A INTRINSIC
low complexity region 228 239 N/A INTRINSIC
uDENN 273 364 1.16e-30 SMART
DENN 371 555 7.84e-78 SMART
low complexity region 590 597 N/A INTRINSIC
dDENN 602 669 3.12e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132877
Predicted Effect probably benign
Transcript: ENSMUST00000143107
SMART Domains Protein: ENSMUSP00000123410
Gene: ENSMUSG00000046364

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 26 146 7.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168005
AA Change: V684A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: V684A

DomainStartEndE-ValueType
low complexity region 160 192 N/A INTRINSIC
low complexity region 207 221 N/A INTRINSIC
low complexity region 228 239 N/A INTRINSIC
uDENN 273 364 1.16e-30 SMART
DENN 371 555 7.84e-78 SMART
low complexity region 590 597 N/A INTRINSIC
dDENN 602 669 3.12e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198845
Predicted Effect probably benign
Transcript: ENSMUST00000156921
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,422,257 (GRCm39) Q211L possibly damaging Het
Abca14 T A 7: 119,917,968 (GRCm39) probably benign Het
Abcb10 A T 8: 124,685,411 (GRCm39) V543D possibly damaging Het
Ankrd17 G A 5: 90,431,057 (GRCm39) T909I probably benign Het
Arhgef3 A G 14: 27,084,799 (GRCm39) N76S probably benign Het
Bbx A T 16: 50,045,278 (GRCm39) C320S probably damaging Het
Castor2 G A 5: 134,164,482 (GRCm39) V148I possibly damaging Het
Cdh23 C A 10: 60,159,302 (GRCm39) V2159F possibly damaging Het
Cmtr2 G A 8: 110,948,136 (GRCm39) A149T probably damaging Het
Cntnap4 A G 8: 113,512,535 (GRCm39) probably benign Het
Col6a3 A T 1: 90,709,482 (GRCm39) F1905I unknown Het
Ddx60 A G 8: 62,428,866 (GRCm39) Y792C possibly damaging Het
Dock4 T C 12: 40,775,776 (GRCm39) L573P probably damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Ear1 T G 14: 44,056,504 (GRCm39) Q121H probably benign Het
Eprs1 T A 1: 185,119,321 (GRCm39) probably benign Het
Ero1a T C 14: 45,530,619 (GRCm39) K271R probably benign Het
Esyt1 A G 10: 128,348,236 (GRCm39) L884P probably damaging Het
F2r T C 13: 95,741,160 (GRCm39) N125S probably damaging Het
Fam217a T C 13: 35,095,144 (GRCm39) E357G probably damaging Het
Gabbr1 C T 17: 37,365,689 (GRCm39) R123W probably damaging Het
Gimap4 T G 6: 48,667,347 (GRCm39) V34G probably damaging Het
Gm3248 A T 14: 5,943,011 (GRCm38) V180E probably benign Het
Hecw2 A T 1: 53,972,407 (GRCm39) N204K probably damaging Het
Ighv1-84 T A 12: 115,944,549 (GRCm39) K42* probably null Het
Kcnh7 T A 2: 62,536,402 (GRCm39) Q1060L probably damaging Het
Kif3b T A 2: 153,158,868 (GRCm39) I223N probably damaging Het
Lama2 G A 10: 27,088,039 (GRCm39) P913S probably benign Het
Lgr4 A G 2: 109,832,841 (GRCm39) I334M probably damaging Het
Lrrc45 G T 11: 120,609,351 (GRCm39) E403D possibly damaging Het
Mccc2 A G 13: 100,090,747 (GRCm39) L462P probably damaging Het
Mfsd13b T C 7: 120,598,132 (GRCm39) V346A probably damaging Het
Muc6 T C 7: 141,227,763 (GRCm39) T1342A possibly damaging Het
Mxd3 T C 13: 55,477,091 (GRCm39) N56S probably benign Het
Niban2 A G 2: 32,811,135 (GRCm39) I382V probably benign Het
Ntn5 G T 7: 45,343,672 (GRCm39) R337L probably damaging Het
Nynrin A G 14: 56,105,962 (GRCm39) K894E probably benign Het
Or1j4 G T 2: 36,740,715 (GRCm39) G219V probably benign Het
Or2a25 T A 6: 42,889,272 (GRCm39) Y272N probably damaging Het
Or4f56 A C 2: 111,703,887 (GRCm39) S104R possibly damaging Het
Or7e168 A T 9: 19,719,981 (GRCm39) R122S probably damaging Het
Pappa2 T C 1: 158,542,571 (GRCm39) D1772G probably benign Het
Pcdh18 G T 3: 49,710,387 (GRCm39) F309L probably benign Het
Pcdhac2 G T 18: 37,279,006 (GRCm39) R662L probably damaging Het
Ppp5c G A 7: 16,742,555 (GRCm39) S261L possibly damaging Het
Qng1 G A 13: 58,529,749 (GRCm39) R288W probably damaging Het
Rc3h1 T C 1: 160,765,675 (GRCm39) probably benign Het
Rfx8 A C 1: 39,704,682 (GRCm39) S578A possibly damaging Het
Rhbdl3 T G 11: 80,244,507 (GRCm39) *405E probably null Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf139 G T 15: 58,770,606 (GRCm39) L210F probably damaging Het
Rragc A G 4: 123,814,879 (GRCm39) R192G possibly damaging Het
Ryr3 A T 2: 112,794,701 (GRCm39) V137E probably damaging Het
S100pbp A T 4: 129,076,234 (GRCm39) D30E probably damaging Het
Smchd1 A T 17: 71,665,128 (GRCm39) probably benign Het
Sppl3 T A 5: 115,220,390 (GRCm39) C101S probably benign Het
St8sia6 T C 2: 13,728,324 (GRCm39) T74A probably benign Het
Sult3a1 A G 10: 33,742,571 (GRCm39) N66S possibly damaging Het
Sv2b T A 7: 74,773,947 (GRCm39) K508M probably damaging Het
Terf1 T C 1: 15,903,626 (GRCm39) S275P probably damaging Het
Tmed8 G T 12: 87,220,990 (GRCm39) H199N probably damaging Het
Tubg2 A T 11: 101,046,971 (GRCm39) Q9L probably damaging Het
Ubxn4 C T 1: 128,183,848 (GRCm39) probably benign Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Zfp213 A G 17: 23,776,945 (GRCm39) S366P possibly damaging Het
Other mutations in Dennd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Dennd2b APN 7 109,126,915 (GRCm39) missense possibly damaging 0.71
IGL01132:Dennd2b APN 7 109,169,212 (GRCm39) splice site probably null
IGL01288:Dennd2b APN 7 109,139,029 (GRCm39) missense probably damaging 0.96
IGL01645:Dennd2b APN 7 109,126,841 (GRCm39) nonsense probably null
IGL01714:Dennd2b APN 7 109,169,269 (GRCm39) missense probably damaging 0.99
IGL02021:Dennd2b APN 7 109,156,579 (GRCm39) missense probably damaging 1.00
IGL02496:Dennd2b APN 7 109,155,442 (GRCm39) missense possibly damaging 0.83
IGL02795:Dennd2b APN 7 109,155,571 (GRCm39) missense probably damaging 1.00
Bucolic UTSW 7 109,124,755 (GRCm39) nonsense probably null
Halcyon UTSW 7 109,156,000 (GRCm39) nonsense probably null
FR4340:Dennd2b UTSW 7 109,156,128 (GRCm39) unclassified probably benign
FR4737:Dennd2b UTSW 7 109,156,128 (GRCm39) unclassified probably benign
PIT4466001:Dennd2b UTSW 7 109,130,337 (GRCm39) missense probably damaging 1.00
PIT4469001:Dennd2b UTSW 7 109,130,337 (GRCm39) missense probably damaging 1.00
PIT4472001:Dennd2b UTSW 7 109,130,337 (GRCm39) missense probably damaging 1.00
R0024:Dennd2b UTSW 7 109,123,866 (GRCm39) missense probably damaging 1.00
R0124:Dennd2b UTSW 7 109,141,718 (GRCm39) missense possibly damaging 0.66
R0125:Dennd2b UTSW 7 109,155,545 (GRCm39) missense probably benign 0.19
R0365:Dennd2b UTSW 7 109,138,156 (GRCm39) missense probably damaging 1.00
R0491:Dennd2b UTSW 7 109,156,411 (GRCm39) missense probably benign 0.45
R0534:Dennd2b UTSW 7 109,140,635 (GRCm39) missense probably damaging 1.00
R0662:Dennd2b UTSW 7 109,156,633 (GRCm39) missense probably damaging 1.00
R0743:Dennd2b UTSW 7 109,156,552 (GRCm39) missense probably damaging 1.00
R0772:Dennd2b UTSW 7 109,141,527 (GRCm39) splice site probably null
R0774:Dennd2b UTSW 7 109,141,527 (GRCm39) splice site probably null
R0787:Dennd2b UTSW 7 109,124,827 (GRCm39) missense possibly damaging 0.94
R0884:Dennd2b UTSW 7 109,156,552 (GRCm39) missense probably damaging 1.00
R1518:Dennd2b UTSW 7 109,156,562 (GRCm39) missense probably damaging 1.00
R1908:Dennd2b UTSW 7 109,124,533 (GRCm39) nonsense probably null
R1909:Dennd2b UTSW 7 109,124,533 (GRCm39) nonsense probably null
R2232:Dennd2b UTSW 7 109,156,414 (GRCm39) missense probably benign
R2358:Dennd2b UTSW 7 109,155,653 (GRCm39) missense probably benign 0.01
R2847:Dennd2b UTSW 7 109,124,544 (GRCm39) missense probably damaging 1.00
R2869:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2869:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2870:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2870:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2871:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2871:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2873:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R2874:Dennd2b UTSW 7 109,156,637 (GRCm39) missense probably benign 0.01
R4534:Dennd2b UTSW 7 109,130,363 (GRCm39) missense probably damaging 1.00
R4536:Dennd2b UTSW 7 109,130,363 (GRCm39) missense probably damaging 1.00
R4559:Dennd2b UTSW 7 109,124,785 (GRCm39) missense probably damaging 1.00
R4798:Dennd2b UTSW 7 109,156,240 (GRCm39) missense probably damaging 0.99
R4846:Dennd2b UTSW 7 109,156,043 (GRCm39) nonsense probably null
R5110:Dennd2b UTSW 7 109,141,697 (GRCm39) missense probably benign 0.02
R5181:Dennd2b UTSW 7 109,155,997 (GRCm39) missense probably benign
R5268:Dennd2b UTSW 7 109,156,519 (GRCm39) missense probably benign
R5403:Dennd2b UTSW 7 109,156,112 (GRCm39) missense probably damaging 1.00
R5836:Dennd2b UTSW 7 109,140,552 (GRCm39) missense possibly damaging 0.78
R5932:Dennd2b UTSW 7 109,169,223 (GRCm39) missense probably damaging 1.00
R5937:Dennd2b UTSW 7 109,156,478 (GRCm39) missense possibly damaging 0.86
R6180:Dennd2b UTSW 7 109,156,095 (GRCm39) missense probably benign 0.11
R6741:Dennd2b UTSW 7 109,144,304 (GRCm39) missense possibly damaging 0.95
R6781:Dennd2b UTSW 7 109,124,511 (GRCm39) missense possibly damaging 0.83
R7086:Dennd2b UTSW 7 109,124,781 (GRCm39) missense probably damaging 1.00
R7466:Dennd2b UTSW 7 109,124,553 (GRCm39) missense probably damaging 1.00
R7644:Dennd2b UTSW 7 109,156,000 (GRCm39) nonsense probably null
R8354:Dennd2b UTSW 7 109,124,755 (GRCm39) nonsense probably null
R8745:Dennd2b UTSW 7 109,156,279 (GRCm39) missense probably benign 0.02
R8859:Dennd2b UTSW 7 109,123,863 (GRCm39) missense probably damaging 1.00
R9016:Dennd2b UTSW 7 109,139,642 (GRCm39) missense possibly damaging 0.84
R9178:Dennd2b UTSW 7 109,156,291 (GRCm39) missense probably benign 0.31
R9361:Dennd2b UTSW 7 109,126,991 (GRCm39) missense probably damaging 1.00
R9564:Dennd2b UTSW 7 109,125,536 (GRCm39) missense probably damaging 1.00
R9595:Dennd2b UTSW 7 109,155,973 (GRCm39) missense probably damaging 0.96
RF062:Dennd2b UTSW 7 109,156,153 (GRCm39) unclassified probably benign
X0067:Dennd2b UTSW 7 109,155,447 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16