Incidental Mutation 'R4795:Dab2'
ID 368975
Institutional Source Beutler Lab
Gene Symbol Dab2
Ensembl Gene ENSMUSG00000022150
Gene Name disabled 2, mitogen-responsive phosphoprotein
Synonyms 5730435J12Rik, D15Wsu122e, D630005B22Rik, p96
MMRRC Submission 041996-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R4795 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 6329269-6470193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6459092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 335 (P335T)
Ref Sequence ENSEMBL: ENSMUSP00000079689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110663] [ENSMUST00000110664] [ENSMUST00000160134] [ENSMUST00000161812] [ENSMUST00000161040]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078019
SMART Domains Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 270 288 N/A INTRINSIC
low complexity region 292 306 N/A INTRINSIC
low complexity region 335 355 N/A INTRINSIC
low complexity region 378 394 N/A INTRINSIC
PDB:3H8D|H 465 493 2e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000080880
AA Change: P335T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: P335T

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 488 506 N/A INTRINSIC
low complexity region 510 524 N/A INTRINSIC
low complexity region 553 573 N/A INTRINSIC
low complexity region 596 612 N/A INTRINSIC
PDB:3H8D|H 683 711 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110663
SMART Domains Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 270 288 N/A INTRINSIC
low complexity region 292 306 N/A INTRINSIC
low complexity region 335 355 N/A INTRINSIC
low complexity region 378 394 N/A INTRINSIC
PDB:3H8D|H 465 493 2e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110664
AA Change: P314T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: P314T

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 467 485 N/A INTRINSIC
low complexity region 489 503 N/A INTRINSIC
low complexity region 532 552 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
PDB:3H8D|H 662 690 3e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159552
Predicted Effect probably benign
Transcript: ENSMUST00000160134
SMART Domains Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000163082
AA Change: P202T
SMART Domains Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: P202T

DomainStartEndE-ValueType
Blast:PTB 2 59 1e-33 BLAST
PDB:1P3R|C 2 59 2e-34 PDB
SCOP:d1ddma_ 3 59 9e-12 SMART
low complexity region 60 79 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
low complexity region 378 392 N/A INTRINSIC
low complexity region 421 441 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
PDB:3H8D|H 551 579 3e-12 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161558
Predicted Effect probably benign
Transcript: ENSMUST00000161812
SMART Domains Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 249 267 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
low complexity region 314 334 N/A INTRINSIC
low complexity region 357 373 N/A INTRINSIC
PDB:3H8D|H 444 472 2e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000161040
SMART Domains Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants exhibit abnormal primitive endoderm structure and/or function, lack a proamniotic cavity and die prior to embryonic day 9.5. A conditional mutant survives, but shows kidney proximal tubule abnormality. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Epb41l3 T A 17: 69,555,714 (GRCm39) probably null Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Isl1 T C 13: 116,441,966 (GRCm39) N89S probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pde4d T A 13: 110,074,705 (GRCm39) probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Polk T C 13: 96,625,764 (GRCm39) T347A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Thnsl1 T A 2: 21,216,856 (GRCm39) C203* probably null Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (GRCm39) probably null Het
Other mutations in Dab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Dab2 APN 15 6,459,306 (GRCm39) missense probably benign 0.00
IGL00731:Dab2 APN 15 6,465,191 (GRCm39) missense possibly damaging 0.95
IGL02382:Dab2 APN 15 6,466,468 (GRCm39) missense possibly damaging 0.62
IGL02598:Dab2 APN 15 6,458,847 (GRCm39) missense probably damaging 0.97
IGL03054:Dab2 APN 15 6,447,707 (GRCm39) unclassified probably benign
IGL03093:Dab2 APN 15 6,465,892 (GRCm39) missense probably damaging 1.00
IGL03369:Dab2 APN 15 6,464,790 (GRCm39) missense possibly damaging 0.64
IGL03372:Dab2 APN 15 6,459,030 (GRCm39) missense probably damaging 0.99
R0157:Dab2 UTSW 15 6,459,308 (GRCm39) missense probably benign 0.00
R0326:Dab2 UTSW 15 6,447,797 (GRCm39) missense probably damaging 1.00
R0488:Dab2 UTSW 15 6,454,135 (GRCm39) missense probably damaging 1.00
R0552:Dab2 UTSW 15 6,464,895 (GRCm39) missense possibly damaging 0.65
R0938:Dab2 UTSW 15 6,464,865 (GRCm39) missense probably benign 0.04
R1433:Dab2 UTSW 15 6,459,419 (GRCm39) missense probably damaging 1.00
R1635:Dab2 UTSW 15 6,459,351 (GRCm39) missense possibly damaging 0.80
R1713:Dab2 UTSW 15 6,459,182 (GRCm39) missense possibly damaging 0.94
R1757:Dab2 UTSW 15 6,359,933 (GRCm39) intron probably benign
R1800:Dab2 UTSW 15 6,464,948 (GRCm39) missense probably benign
R1837:Dab2 UTSW 15 6,365,957 (GRCm39) intron probably benign
R1999:Dab2 UTSW 15 6,446,398 (GRCm39) missense probably benign 0.32
R2050:Dab2 UTSW 15 6,464,696 (GRCm39) missense possibly damaging 0.47
R2117:Dab2 UTSW 15 6,465,096 (GRCm39) missense probably damaging 1.00
R2129:Dab2 UTSW 15 6,365,864 (GRCm39) nonsense probably null
R2150:Dab2 UTSW 15 6,446,398 (GRCm39) missense probably benign 0.32
R2329:Dab2 UTSW 15 6,459,044 (GRCm39) missense possibly damaging 0.80
R2338:Dab2 UTSW 15 6,464,733 (GRCm39) missense possibly damaging 0.62
R2680:Dab2 UTSW 15 6,466,474 (GRCm39) missense possibly damaging 0.89
R3978:Dab2 UTSW 15 6,464,644 (GRCm39) critical splice acceptor site probably null
R3979:Dab2 UTSW 15 6,464,644 (GRCm39) critical splice acceptor site probably null
R3980:Dab2 UTSW 15 6,464,644 (GRCm39) critical splice acceptor site probably null
R4551:Dab2 UTSW 15 6,464,775 (GRCm39) missense probably damaging 0.97
R4829:Dab2 UTSW 15 6,454,162 (GRCm39) missense probably damaging 1.00
R4830:Dab2 UTSW 15 6,457,008 (GRCm39) missense probably benign
R4832:Dab2 UTSW 15 6,366,080 (GRCm39) splice site probably null
R5168:Dab2 UTSW 15 6,365,924 (GRCm39) intron probably benign
R5620:Dab2 UTSW 15 6,447,796 (GRCm39) missense probably damaging 0.98
R5996:Dab2 UTSW 15 6,464,792 (GRCm39) nonsense probably null
R6159:Dab2 UTSW 15 6,465,941 (GRCm39) missense possibly damaging 0.93
R6998:Dab2 UTSW 15 6,454,130 (GRCm39) missense possibly damaging 0.49
R7002:Dab2 UTSW 15 6,464,846 (GRCm39) missense probably benign 0.01
R7040:Dab2 UTSW 15 6,451,732 (GRCm39) missense probably damaging 1.00
R7138:Dab2 UTSW 15 6,458,780 (GRCm39) missense probably benign 0.24
R7448:Dab2 UTSW 15 6,451,747 (GRCm39) missense probably damaging 1.00
R7548:Dab2 UTSW 15 6,459,399 (GRCm39) missense possibly damaging 0.80
R8062:Dab2 UTSW 15 6,456,822 (GRCm39) missense probably damaging 0.99
R8124:Dab2 UTSW 15 6,458,878 (GRCm39) nonsense probably null
R8164:Dab2 UTSW 15 6,460,449 (GRCm39) missense possibly damaging 0.92
R8171:Dab2 UTSW 15 6,453,407 (GRCm39) missense probably benign 0.00
R8230:Dab2 UTSW 15 6,451,824 (GRCm39) missense probably damaging 1.00
R8372:Dab2 UTSW 15 6,446,406 (GRCm39) missense possibly damaging 0.80
R8427:Dab2 UTSW 15 6,458,840 (GRCm39) nonsense probably null
R8919:Dab2 UTSW 15 6,465,271 (GRCm39) missense
R9363:Dab2 UTSW 15 6,460,481 (GRCm39) missense probably benign 0.16
R9461:Dab2 UTSW 15 6,460,435 (GRCm39) missense possibly damaging 0.82
R9532:Dab2 UTSW 15 6,451,762 (GRCm39) missense probably damaging 1.00
R9779:Dab2 UTSW 15 6,460,525 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTGAGAACGCCTTTTCTGC -3'
(R):5'- GTACCGATAGTCCTTTGGGAG -3'

Sequencing Primer
(F):5'- GAGAACGCCTTTTCTGCCAATC -3'
(R):5'- CCCACAAAAGGGTTCGGG -3'
Posted On 2016-02-04