Incidental Mutation 'R5932:Dennd2b'
ID 461931
Institutional Source Beutler Lab
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 # R5932 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 109123118-109302812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109169223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 24 (T24M)
Ref Sequence ENSEMBL: ENSMUSP00000146747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000168005] [ENSMUST00000207394] [ENSMUST00000207745] [ENSMUST00000208583] [ENSMUST00000208734]
AlphaFold Q924W7
Predicted Effect probably damaging
Transcript: ENSMUST00000077909
AA Change: T24M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: T24M

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: T24M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: T24M

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: ENSMUST00000084738
AA Change: T24M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: T24M

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 damaging
Transcript: ENSMUST00000168005
AA Change: T24M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: T24M

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 damaging
Transcript: ENSMUST00000207394
AA Change: T24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207745
AA Change: T24M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208557
Predicted Effect probably damaging
Transcript: ENSMUST00000208583
AA Change: T24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208734
AA Change: T24M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208981
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,870,518 (GRCm39) S7T possibly damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Akap1 A G 11: 88,722,585 (GRCm39) L890P probably damaging Het
Akap13 T A 7: 75,259,932 (GRCm39) M49K probably damaging Het
Ankrd17 A T 5: 90,413,295 (GRCm39) N1206K probably damaging Het
Bbs7 G A 3: 36,636,847 (GRCm39) T480I probably benign Het
Bbs9 A G 9: 22,723,627 (GRCm39) E769G probably damaging Het
Bpgm T A 6: 34,464,860 (GRCm39) S192R probably damaging Het
Brinp1 C A 4: 68,711,178 (GRCm39) K343N probably benign Het
Cabyr T G 18: 12,887,407 (GRCm39) V185G probably damaging Het
Cadm1 C A 9: 47,710,749 (GRCm39) D217E probably damaging Het
Camk1g T A 1: 193,036,347 (GRCm39) E171V probably benign Het
Casz1 T A 4: 149,023,570 (GRCm39) M825K possibly damaging Het
Ccdc27 A G 4: 154,111,231 (GRCm39) V627A probably benign Het
Ccdc40 T G 11: 119,141,838 (GRCm39) I808R probably damaging Het
Cdh23 G A 10: 60,228,763 (GRCm39) R1140C probably damaging Het
Celsr1 A G 15: 85,916,905 (GRCm39) V356A probably damaging Het
Cep126 T A 9: 8,103,509 (GRCm39) D167V probably damaging Het
Chmp4b C T 2: 154,533,201 (GRCm39) T147I probably benign Het
Clstn3 A T 6: 124,415,291 (GRCm39) M728K probably benign Het
Col7a1 A T 9: 108,809,279 (GRCm39) E2618V unknown Het
Cplane1 T A 15: 8,274,079 (GRCm39) probably null Het
Crls1 T A 2: 132,706,087 (GRCm39) Y170* probably null Het
Epas1 T G 17: 87,135,074 (GRCm39) I569S possibly damaging Het
Fhl3 T C 4: 124,599,520 (GRCm39) Y32H probably damaging Het
Fibp G A 19: 5,514,453 (GRCm39) G333D probably benign Het
Frmd4a C T 2: 4,534,650 (GRCm39) T156I probably damaging Het
Gcn1 T C 5: 115,730,435 (GRCm39) L873P possibly damaging Het
Gpr141b C A 13: 19,913,646 (GRCm39) noncoding transcript Het
Hectd3 G A 4: 116,859,470 (GRCm39) R698H possibly damaging Het
Il17a T C 1: 20,803,977 (GRCm39) V124A probably damaging Het
Kif14 A T 1: 136,444,128 (GRCm39) E1373D probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Kmt2a T C 9: 44,731,944 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Lamb2 T C 9: 108,357,810 (GRCm39) I111T probably damaging Het
Lrch3 A T 16: 32,796,106 (GRCm39) D204V probably damaging Het
Mansc1 C A 6: 134,587,478 (GRCm39) R233L possibly damaging Het
Mkrn3 A G 7: 62,068,655 (GRCm39) C379R probably damaging Het
Ncoa3 T A 2: 165,912,045 (GRCm39) probably null Het
Neu3 A T 7: 99,462,525 (GRCm39) C399* probably null Het
Or10ad1 T G 15: 98,105,296 (GRCm39) *323S probably null Het
Or52e8 G A 7: 104,624,862 (GRCm39) T114M probably damaging Het
Pcare T C 17: 72,058,748 (GRCm39) R310G probably damaging Het
Pde5a T C 3: 122,634,693 (GRCm39) F713L probably benign Het
Pdk1 T A 2: 71,713,760 (GRCm39) probably null Het
Plin4 A G 17: 56,413,356 (GRCm39) V423A possibly damaging Het
Pstpip1 T A 9: 56,033,214 (GRCm39) Y249N probably damaging Het
Ptprf A T 4: 118,068,964 (GRCm39) C1673S probably benign Het
Pum1 A G 4: 130,457,677 (GRCm39) T230A probably benign Het
Qsox1 A T 1: 155,665,079 (GRCm39) D287E probably benign Het
Rad51ap2 A G 12: 11,508,387 (GRCm39) N770D probably damaging Het
Rtp3 T A 9: 110,815,760 (GRCm39) I202F probably benign Het
Slc26a4 C T 12: 31,585,248 (GRCm39) probably null Het
Spmip7 A G 11: 11,438,513 (GRCm39) probably benign Het
Sptbn1 C G 11: 30,086,136 (GRCm39) V1191L probably damaging Het
Tead2 T C 7: 44,882,323 (GRCm39) Y121H probably benign Het
Thsd7b T C 1: 129,358,575 (GRCm39) L3P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Usp2 A G 9: 44,003,630 (GRCm39) I481V probably benign Het
Vps13d C A 4: 144,771,611 (GRCm39) V4056F possibly damaging Het
Yeats2 A G 16: 20,011,913 (GRCm39) E496G probably benign Het
Zap70 A G 1: 36,820,227 (GRCm39) K503E probably damaging Het
Zbtb46 A G 2: 181,053,713 (GRCm39) L333P probably benign Het
Zfc3h1 A T 10: 115,236,815 (GRCm39) T430S probably benign Het
Zfp618 C T 4: 63,036,803 (GRCm39) R368* probably null 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
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
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'- TATGTATGTCAGACAAGACTTCCTCC -3'
(R):5'- GCAGAGGTTTTGCCACTTGC -3'

Sequencing Primer
(F):5'- TGTCAGACAAGACTTCCTCCTAATC -3'
(R):5'- GAGGTTTTGCCACTTGCCACAG -3'
Posted On 2017-02-28