Incidental Mutation 'FR4340:Dennd2b'
ID 511138
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: 0.414) question?
Stock # FR4340 ()
Quality Score 217.468
Status Not validated
Chromosome 7
Chromosomal Location 109123118-109302812 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CACCACACTGGGGCAGCCCACACTGGGGCAG to CCCCACACTGGGGCAG at 109156128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000168005] [ENSMUST00000207394] [ENSMUST00000207745] [ENSMUST00000208583]
AlphaFold Q924W7
Predicted Effect probably benign
Transcript: ENSMUST00000077909
SMART Domains Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024

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
SMART Domains Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024

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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 94.3%
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
4930578G10Rik G T 4: 42,761,098 (GRCm39) probably benign Het
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
A530064D06Rik GTAGGAAGCTTAG GTAG 17: 48,470,549 (GRCm39) probably benign Homo
Arpc1b CC CCTGGTC 5: 145,063,602 (GRCm39) probably null Het
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
Bcas3 G A 11: 85,400,323 (GRCm39) V431I probably benign Homo
Blm ACCT ACCTGCCT 7: 80,113,515 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,658 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,655 (GRCm39) probably benign Het
Bltp1 TATTATTAT TATTATTATTATTATCATTATTAT 3: 37,104,901 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1f AGG AGGCGG X: 7,486,306 (GRCm39) probably benign Het
Calhm1 CTCTGTGGCTGTGGCTGTGGCTGTG CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG 19: 47,129,690 (GRCm39) probably benign Het
Casz1 ACCACAGCCACAGCCACAGCCAC ACCACAGCCACAGCCAC 4: 149,036,759 (GRCm39) probably benign Homo
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Cd80 GAA GAAAAA 16: 38,306,678 (GRCm39) probably benign Homo
Cimip2b CAGAG CAG 4: 43,427,384 (GRCm39) probably null Homo
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Crygc A T 1: 65,110,822 (GRCm39) F155Y probably benign Het
Cul9 TCC TCCCCC 17: 46,811,779 (GRCm39) probably benign Het
Cyp2d11 T TGGGA 15: 82,274,223 (GRCm39) probably null Homo
Dbr1 AGG AGGAGGCGG 9: 99,465,754 (GRCm39) probably benign Het
Dennd10 CT CTTTT 19: 60,803,059 (GRCm39) probably benign Homo
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dnah8 ACACTGCC AC 17: 30,854,437 (GRCm39) probably benign Het
Dthd1 C CTTA 5: 63,000,369 (GRCm39) probably benign Homo
Frem3 CT CTTTT 8: 81,341,870 (GRCm39) probably benign Homo
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
G530012D18Rik CACACAGAGAGAGAGAGAGAGAGAGA CA 1: 85,504,873 (GRCm39) probably benign Het
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gm16519 A AGAAC 17: 71,236,333 (GRCm39) probably null Homo
Gm4340 GCAG GCAACAG 10: 104,031,959 (GRCm39) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,960 (GRCm39) probably benign Het
Gm4340 CAG CAGTAG 10: 104,031,936 (GRCm39) probably null Het
Gpatch11 AGGAAG AGGAAGGGGAAG 17: 79,149,603 (GRCm39) probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
Ifi208 ATGGTG ATG 1: 173,505,264 (GRCm39) probably benign Homo
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Ipo9 TCC TCCCCC 1: 135,314,007 (GRCm39) probably benign Het
Ipo9 CTC CTCTTC 1: 135,314,009 (GRCm39) probably benign Het
Isg20l2 AAG AAGTAG 3: 87,839,019 (GRCm39) probably null Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,800 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,788 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Krt10 CCTCCT CCTCCTTCTCCT 11: 99,280,100 (GRCm39) probably benign Het
Krt10 CAC CACGAC 11: 99,277,028 (GRCm39) probably benign Het
Krt10 ACCG ACCGCCG 11: 99,277,029 (GRCm39) probably benign Homo
Las1l TCCTC TCCTCTACCTC X: 94,984,228 (GRCm39) probably benign Het
Lce1a1 C T 3: 92,554,151 (GRCm39) G108S unknown Het
Lkaaear1 CCAGCTCCAG CCAGCTCCAGCTGCAGCTCCAG 2: 181,339,387 (GRCm39) probably benign Het
Lrit3 CTG CTGTTG 3: 129,582,457 (GRCm39) probably benign Het
Mamld1 CAG CAGAAG X: 70,162,452 (GRCm39) probably benign Het
Mapk7 TGCTGGCGCTGGTGCTGGCGCTGG TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG 11: 61,381,032 (GRCm39) probably benign Het
Mast4 GCA GCAGTGTCA 13: 102,872,825 (GRCm39) probably benign Homo
Mast4 TTTT TTTTATTT 13: 102,871,365 (GRCm39) probably null Het
Med12l AGC AGCCGC 3: 59,183,406 (GRCm39) probably benign Het
Mfsd5 G A 15: 102,189,596 (GRCm39) V323I probably benign Het
Nacad GTC GTCAGGATC 11: 6,549,761 (GRCm39) probably benign Het
Naip1 A C 13: 100,559,584 (GRCm39) M1140R probably benign Het
Nbea TTTA T 3: 55,916,633 (GRCm39) probably benign Homo
Nefh CTCACCTGGGGACTTGGCCTC CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,040 (GRCm39) probably benign Homo
Nefh ACTTGGCCTCACCTGGGG ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG 11: 4,891,033 (GRCm39) probably benign Het
Nefh GCCTCACCTGGGGACTTGGCCTC GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,038 (GRCm39) probably benign Homo
Neu1 TCTTCTA T 17: 35,151,534 (GRCm39) probably benign Het
Nutf2 G T 8: 106,603,202 (GRCm39) D78Y probably damaging Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or5e1 AT ATGATATT 7: 108,354,161 (GRCm39) probably benign Homo
Or5p70 G A 7: 107,995,105 (GRCm39) M259I probably benign Het
Or5p70 A G 7: 107,995,100 (GRCm39) T258A probably benign Het
Pdik1l ACCAC ACCACCCCCAC 4: 134,006,823 (GRCm39) probably benign Het
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Pik3c2g AG AGAGGG 6: 139,612,654 (GRCm39) probably null Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,468,290 (GRCm39) probably benign Homo
Prag1 C CAGT 8: 36,571,040 (GRCm39) probably benign Homo
Pramel16 G A 4: 143,676,312 (GRCm39) T264M probably damaging Het
Prkn G A 17: 12,073,650 (GRCm39) V323M probably damaging Homo
Raet1d A G 10: 22,247,458 (GRCm39) Q178R probably benign Het
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Serpina3i CGG CGGTGG 12: 104,231,423 (GRCm39) probably benign Het
Sfswap ACTCAGCCC ACTCAGCCCCCTCAGCCC 5: 129,646,815 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,784 (GRCm39) probably benign Het
Sp140l1 A C 1: 85,087,072 (GRCm39) N6K probably damaging Het
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry GCTGCTGCTGCTG GCTGCTGCTGCTGCTG Y: 2,662,824 (GRCm39) probably benign Het
Tbr1 A C 2: 61,636,691 (GRCm39) probably benign Het
Tdpoz2 T TCC 3: 93,558,922 (GRCm39) probably null Homo
Tdpoz4 GAA GA 3: 93,704,187 (GRCm39) probably null Het
Tgoln1 AAG AAGCCTCAG 6: 72,593,334 (GRCm39) probably benign Homo
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Het
Tob1 CA CAGAA 11: 94,105,303 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,280 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,286 (GRCm39) probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 (GRCm39) probably benign Het
Triobp TCGG TCGGCGG 15: 78,877,590 (GRCm39) probably benign Homo
Tsbp1 GC GCAAC 17: 34,679,051 (GRCm39) probably benign Het
Tsbp1 CAG CAGTAG 17: 34,679,034 (GRCm39) probably null Het
Tsbp1 GCA GCATCA 17: 34,679,042 (GRCm39) probably benign Het
Tsen2 AGG AGGGGG 6: 115,537,027 (GRCm39) probably benign Homo
Tsen2 AGG AGGGGG 6: 115,537,030 (GRCm39) probably benign Homo
Ubtf TCC TCCCCC 11: 102,197,776 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zc3h13 CGGGATGTGCG CGGGATGTGCGGGATGTGCG 14: 75,561,032 (GRCm39) probably benign Homo
Zfp28 G A 7: 6,397,862 (GRCm39) G766R probably damaging Het
Zfp384 AAGCCCAGGCCCAGGCCCAGGCCCA AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA 6: 125,013,426 (GRCm39) probably benign Het
Zfp428 G A 7: 24,214,506 (GRCm39) D41N probably damaging Homo
Zfp598 CCACAGGC CC 17: 24,898,346 (GRCm39) probably benign Het
Zfp598 CCACCA CCACCAACACCA 17: 24,899,757 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,273 (GRCm39) probably benign Het
Zfp933 GCTT GCTTTTCTT 4: 147,910,186 (GRCm39) probably null Homo
Zfp936 G A 7: 42,838,913 (GRCm39) G127R 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCTTCTGGATCCGGCTCAG -3'
(R):5'- CTTGCTGAGTTGCACTGGTACC -3'

Sequencing Primer
(F):5'- TGGATCCGGCTCAGCACTG -3'
(R):5'- ACTGGTACCCGAGCCCATAG -3'
Posted On 2018-04-05