Incidental Mutation 'R0125:Dennd2b'
ID 21294
Institutional Source Beutler Lab
Gene Symbol Dennd2b
Ensembl Gene ENSMUSG00000031024
Gene Name DENN domain containing 2B
Synonyms Denn2b, 2610305K15Rik, St5, 2010004M01Rik
MMRRC Submission 038410-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # R0125 (G1)
Quality Score 215
Status Validated (trace)
Chromosome 7
Chromosomal Location 109123118-109302812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109155545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 402 (K402E)
Ref Sequence ENSEMBL: ENSMUSP00000078264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000168005] [ENSMUST00000207394] [ENSMUST00000207745] [ENSMUST00000208583]
AlphaFold Q924W7
Predicted Effect probably benign
Transcript: ENSMUST00000077909
AA Change: K402E

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: K402E

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: ENSMUST00000079282
AA Change: K402E

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: K402E

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
SMART Domains Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024

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 probably benign
Transcript: ENSMUST00000168005
SMART Domains Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024

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 probably benign
Transcript: ENSMUST00000207394
Predicted Effect probably benign
Transcript: ENSMUST00000207745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208981
Predicted Effect probably benign
Transcript: ENSMUST00000208583
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 98% (96/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T C 14: 70,394,096 (GRCm39) probably benign Het
Adam23 T C 1: 63,573,515 (GRCm39) L261P probably benign Het
Adgra3 G A 5: 50,159,194 (GRCm39) probably benign Het
Agtr1b A G 3: 20,369,704 (GRCm39) F301L probably benign Het
Ahnak2 G A 12: 112,748,776 (GRCm39) T357I probably benign Het
Aldh1a7 T C 19: 20,704,430 (GRCm39) probably benign Het
Apoh A T 11: 108,302,899 (GRCm39) N288I probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Atp6v0a1 A G 11: 100,929,677 (GRCm39) probably null Het
Axl A T 7: 25,486,368 (GRCm39) M112K probably benign Het
Bnc2 A C 4: 84,211,169 (GRCm39) I425S probably damaging Het
Ccn4 T C 15: 66,789,194 (GRCm39) S227P possibly damaging Het
Cdc42bpa C T 1: 179,788,763 (GRCm39) T30M probably damaging Het
Cebpz C A 17: 79,227,317 (GRCm39) R1051M possibly damaging Het
Ces1d A C 8: 93,901,810 (GRCm39) probably benign Het
Chd1l T C 3: 97,494,465 (GRCm39) N405S probably benign Het
Chodl G T 16: 78,738,311 (GRCm39) G93V probably damaging Het
Cpeb2 C T 5: 43,395,743 (GRCm39) probably benign Het
Crebbp A G 16: 3,935,105 (GRCm39) probably benign Het
Crybb3 T C 5: 113,227,675 (GRCm39) T49A possibly damaging Het
Ctps1 A G 4: 120,418,722 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,551,497 (GRCm39) Y240H probably damaging Het
Cyp2d11 A C 15: 82,273,422 (GRCm39) V483G probably benign Het
Dnah14 A T 1: 181,579,628 (GRCm39) N3054Y probably damaging Het
Dspp A C 5: 104,325,905 (GRCm39) D756A unknown Het
Dst T C 1: 34,309,984 (GRCm39) S1553P probably damaging Het
Elp4 A G 2: 105,622,559 (GRCm39) probably null Het
Eml6 G T 11: 29,832,088 (GRCm39) T194K probably benign Het
Evi5 A G 5: 107,943,638 (GRCm39) I569T probably benign Het
Fancm C T 12: 65,168,730 (GRCm39) P1698S possibly damaging Het
Fhdc1 T C 3: 84,352,852 (GRCm39) D791G probably benign Het
Frem1 A G 4: 82,930,188 (GRCm39) Y253H probably damaging Het
Gpn3 A G 5: 122,519,481 (GRCm39) Y196C probably benign Het
Hcls1 A G 16: 36,782,525 (GRCm39) D398G probably benign Het
Hydin T C 8: 111,189,163 (GRCm39) V1189A probably benign Het
Itgb3 G A 11: 104,534,789 (GRCm39) D549N probably damaging Het
Itpr2 A G 6: 146,141,951 (GRCm39) F1697S probably benign Het
Klk1b11 A G 7: 43,648,475 (GRCm39) T161A probably benign Het
Kntc1 G A 5: 123,903,120 (GRCm39) probably benign Het
Map3k19 A T 1: 127,750,837 (GRCm39) F838Y probably benign Het
Map6 T A 7: 98,985,187 (GRCm39) probably null Het
Mcrs1 A G 15: 99,142,608 (GRCm39) probably benign Het
Mdn1 A T 4: 32,729,956 (GRCm39) Y2766F probably damaging Het
Med23 C T 10: 24,776,686 (GRCm39) H739Y probably damaging Het
Mmp17 T A 5: 129,671,646 (GRCm39) D65E possibly damaging Het
Mmp9 T A 2: 164,793,177 (GRCm39) L442Q probably damaging Het
Myo19 T C 11: 84,779,001 (GRCm39) probably benign Het
Nedd1 A C 10: 92,527,791 (GRCm39) S468A possibly damaging Het
Niban2 T A 2: 32,813,833 (GRCm39) V682D probably benign Het
Nlrp4d A C 7: 10,116,316 (GRCm39) V152G probably damaging Het
Nxf1 T A 19: 8,740,170 (GRCm39) D112E probably benign Het
Oas1h A T 5: 121,000,626 (GRCm39) K79* probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or5p69 A G 7: 107,967,576 (GRCm39) Y293C probably damaging Het
Or8b101 A G 9: 38,020,815 (GRCm39) T278A probably benign Het
Or8b1b T A 9: 38,375,757 (GRCm39) L140* probably null Het
Pck1 G A 2: 172,997,874 (GRCm39) W314* probably null Het
Pla2g15 T C 8: 106,889,756 (GRCm39) Y343H probably benign Het
Plcb3 T C 19: 6,936,276 (GRCm39) E749G probably damaging Het
Plgrkt A G 19: 29,328,442 (GRCm39) probably null Het
Pprc1 A G 19: 46,057,951 (GRCm39) probably benign Het
Prkdc A T 16: 15,516,871 (GRCm39) I1082F probably damaging Het
Rapgef6 T A 11: 54,516,701 (GRCm39) Y172* probably null Het
Ros1 G T 10: 52,001,885 (GRCm39) A1079D probably benign Het
Sap30 T C 8: 57,938,545 (GRCm39) E147G probably null Het
Sell T C 1: 163,899,674 (GRCm39) probably benign Het
Senp1 A T 15: 97,946,112 (GRCm39) D544E probably damaging Het
Shpk G A 11: 73,105,048 (GRCm39) probably benign Het
Slc35b1 A T 11: 95,277,353 (GRCm39) T74S probably benign Het
Slc6a3 T A 13: 73,718,098 (GRCm39) probably benign Het
Slf1 T C 13: 77,191,864 (GRCm39) N990S probably benign Het
Smgc A G 15: 91,738,746 (GRCm39) probably benign Het
Snx19 T A 9: 30,351,515 (GRCm39) V861D probably damaging Het
Sprr2e C T 3: 92,260,285 (GRCm39) P39S unknown Het
Sstr2 T A 11: 113,515,303 (GRCm39) M74K probably damaging Het
Svep1 T C 4: 58,099,937 (GRCm39) probably benign Het
Tas2r143 A G 6: 42,377,889 (GRCm39) I240V probably benign Het
Tbrg1 T C 9: 37,563,937 (GRCm39) I233V probably benign Het
Tecpr1 G T 5: 144,134,717 (GRCm39) D1055E probably damaging Het
Thap2 A T 10: 115,212,277 (GRCm39) probably null Het
Tinagl1 A G 4: 130,060,101 (GRCm39) Y388H probably damaging Het
Ttn T A 2: 76,585,896 (GRCm39) Y21945F probably damaging Het
Ugt2b1 A T 5: 87,073,961 (GRCm39) W133R probably benign Het
Usp24 C T 4: 106,254,496 (GRCm39) P1491L possibly damaging Het
Utp15 A G 13: 98,387,390 (GRCm39) S395P possibly damaging Het
Vav1 T A 17: 57,606,847 (GRCm39) L254Q probably damaging Het
Vmn2r104 T C 17: 20,250,069 (GRCm39) Y734C probably damaging Het
Vps8 T A 16: 21,288,904 (GRCm39) V421E probably benign Het
Xkr7 G T 2: 152,874,346 (GRCm39) A138S probably benign 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
IGL02302:Dennd2b APN 7 109,124,538 (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
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
Predicted Primers PCR Primer
(F):5'- TGACACAGGAGCACATGCCTTAC -3'
(R):5'- AGGAAGACTGGAACTTTGGGCACC -3'

Sequencing Primer
(F):5'- AGCACATGCCTTACCTGTTCTG -3'
(R):5'- TGCAAGTGTAAGCCCCAG -3'
Posted On 2013-04-11