Incidental Mutation 'R1635:Dab2'
ID 173111
Institutional Source Beutler Lab
Gene Symbol Dab2
Ensembl Gene ENSMUSG00000022150
Gene Name disabled 2, mitogen-responsive phosphoprotein
Synonyms 5730435J12Rik, D15Wsu122e, D630005B22Rik, p96
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 6329269-6470193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6459351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 400 (Q400R)
Ref Sequence ENSEMBL: ENSMUSP00000106292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110663] [ENSMUST00000110664] [ENSMUST00000160134] [ENSMUST00000161040] [ENSMUST00000161812]
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 possibly damaging
Transcript: ENSMUST00000080880
AA Change: Q421R

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: Q421R

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 possibly damaging
Transcript: ENSMUST00000110664
AA Change: Q400R

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: Q400R

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 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
Predicted Effect unknown
Transcript: ENSMUST00000163082
AA Change: Q288R
SMART Domains Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: Q288R

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly damaging 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
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
R4795:Dab2 UTSW 15 6,459,092 (GRCm39) missense probably benign 0.16
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'- AGCTCTCTAACCGGACTGGCAAAC -3'
(R):5'- TTTCCTGAAGGACCGATGTGCCTC -3'

Sequencing Primer
(F):5'- TGGCAAACCGGAAGCTC -3'
(R):5'- GACCGATGTGCCTCATCCC -3'
Posted On 2014-04-24