Incidental Mutation 'R8062:Dab2'
ID 619816
Institutional Source Beutler Lab
Gene Symbol Dab2
Ensembl Gene ENSMUSG00000022150
Gene Name disabled 2, mitogen-responsive phosphoprotein
Synonyms 5730435J12Rik, D15Wsu122e, D630005B22Rik, p96
MMRRC Submission 067498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R8062 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 6329269-6470193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6456822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 233 (G233D)
Ref Sequence ENSEMBL: ENSMUSP00000125021 (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 probably benign
Transcript: ENSMUST00000080880
SMART Domains Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150

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
SMART Domains Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150

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 probably damaging
Transcript: ENSMUST00000160134
AA Change: G233D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: G233D

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 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: ENSMUST00000163082
SMART Domains Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 A T 8: 80,427,773 (GRCm39) Y172N possibly damaging Het
Abhd2 T A 7: 78,975,338 (GRCm39) M176K possibly damaging Het
Adamts14 A G 10: 61,036,140 (GRCm39) probably null Het
Atg2a T C 19: 6,302,609 (GRCm39) probably null Het
Bach2 G A 4: 32,562,937 (GRCm39) G468E probably damaging Het
Bap1 T A 14: 30,979,465 (GRCm39) N489K probably benign Het
Btaf1 G A 19: 36,969,865 (GRCm39) V1180I probably benign Het
Calm5 A G 13: 3,904,405 (GRCm39) H33R probably benign Het
Cby2 A T 14: 75,830,046 (GRCm39) I49N probably benign Het
Cnr1 T A 4: 33,944,707 (GRCm39) V365E possibly damaging Het
Crym A C 7: 119,800,391 (GRCm39) V77G probably damaging Het
Cyp2j7 T A 4: 96,103,587 (GRCm39) E316V probably null Het
Ddx19b A T 8: 111,747,611 (GRCm39) S108T probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Duxf1 G A 10: 58,059,632 (GRCm39) A374V unknown Het
Duxf3 A C 10: 58,066,750 (GRCm39) M93R probably benign Het
Duxf3 G A 10: 58,066,889 (GRCm39) L537F probably damaging Het
Eif2s2 A G 2: 154,719,724 (GRCm39) F182L possibly damaging Het
Erlin1 T A 19: 44,044,598 (GRCm39) K156I probably benign Het
Gapvd1 A G 2: 34,568,126 (GRCm39) S1413P probably benign Het
Gm1110 G A 9: 26,793,117 (GRCm39) A553V probably damaging Het
Gm3250 C A 10: 77,618,234 (GRCm39) C48F unknown Het
Gm3604 T C 13: 62,518,155 (GRCm39) S68G probably damaging Het
Golga5 T A 12: 102,450,739 (GRCm39) M464K probably benign Het
Gpr142 G A 11: 114,697,357 (GRCm39) R301Q probably benign Het
Gria4 C T 9: 4,480,273 (GRCm39) D392N possibly damaging Het
Grik2 T A 10: 49,116,863 (GRCm39) T633S probably damaging Het
Gsap T A 5: 21,399,461 (GRCm39) I54N probably damaging Het
Hdlbp A G 1: 93,366,064 (GRCm39) Y40H probably benign Het
Hyal5 C A 6: 24,876,196 (GRCm39) T23K possibly damaging Het
Iqank1 G A 15: 75,918,603 (GRCm39) R508H probably benign Het
Itga6 T A 2: 71,672,087 (GRCm39) F834L probably benign Het
Klf1 T A 8: 85,629,928 (GRCm39) L251Q probably benign Het
Kndc1 A G 7: 139,498,760 (GRCm39) D558G probably benign Het
Ktn1 T A 14: 47,962,429 (GRCm39) probably null Het
Lcmt2 A G 2: 120,970,753 (GRCm39) V110A possibly damaging Het
Lgr4 C T 2: 109,831,282 (GRCm39) R304C probably damaging Het
Lnpk T A 2: 74,381,407 (GRCm39) I119L possibly damaging Het
Med13 A G 11: 86,210,264 (GRCm39) V626A probably benign Het
Mroh9 A T 1: 162,866,544 (GRCm39) L700M probably damaging Het
Muc4 T A 16: 32,577,123 (GRCm39) W138R Het
Myh2 G T 11: 67,084,209 (GRCm39) E1611* probably null Het
Myo9b T G 8: 71,774,457 (GRCm39) S323A probably damaging Het
Or2n1c A T 17: 38,520,065 (GRCm39) I310F probably benign Het
Or4c52 T A 2: 89,846,080 (GRCm39) F269I possibly damaging Het
Or5t7 A C 2: 86,507,410 (GRCm39) V89G probably benign Het
Or8b101 G T 9: 38,020,213 (GRCm39) C72F probably damaging Het
P2ry13 A T 3: 59,117,703 (GRCm39) M25K probably benign Het
Pan3 T A 5: 147,463,960 (GRCm39) F571Y probably benign Het
Pdcd11 A G 19: 47,119,152 (GRCm39) D1831G possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pex1 T G 5: 3,655,656 (GRCm39) M161R probably benign Het
Piezo2 T A 18: 63,163,537 (GRCm39) D2127V possibly damaging Het
Plod3 A T 5: 137,019,123 (GRCm39) H336L possibly damaging Het
Pp2d1 A T 17: 53,822,798 (GRCm39) N89K probably benign Het
Ppp4r3a A G 12: 101,008,230 (GRCm39) S736P probably damaging Het
Prp2 C A 6: 132,577,651 (GRCm39) Q313K unknown Het
Psma5 T G 3: 108,173,795 (GRCm39) D90E probably benign Het
Reln G A 5: 22,176,990 (GRCm39) T1892I probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 T G 7: 97,326,594 (GRCm39) D1039E Het
Rtel1 A G 2: 180,982,360 (GRCm39) D370G probably benign Het
Scyl2 T A 10: 89,490,022 (GRCm39) N447Y probably damaging Het
Sis A T 3: 72,828,321 (GRCm39) Y1222* probably null Het
Slc37a3 A T 6: 39,341,530 (GRCm39) H35Q probably damaging Het
Sltm A T 9: 70,480,779 (GRCm39) K210N unknown Het
Spata3 T C 1: 85,952,148 (GRCm39) I134T unknown Het
Speer4d A T 5: 15,825,437 (GRCm39) N54I possibly damaging Het
Syne1 A G 10: 5,135,394 (GRCm39) probably null Het
Tars1 A T 15: 11,388,400 (GRCm39) F465Y possibly damaging Het
Tlr4 T G 4: 66,758,087 (GRCm39) N293K probably benign Het
Tmprss13 C A 9: 45,239,986 (GRCm39) T98K unknown Het
Tnfsf8 G A 4: 63,779,432 (GRCm39) probably benign Het
Trim30b T A 7: 104,015,393 (GRCm39) probably benign Het
Trpm1 A G 7: 63,851,689 (GRCm39) K136E probably benign Het
Ttc6 A G 12: 57,783,764 (GRCm39) Y1741C possibly damaging Het
Usp38 T C 8: 81,711,218 (GRCm39) D939G probably damaging Het
Vmn1r196 T A 13: 22,477,440 (GRCm39) N26K probably damaging Het
Vmn2r50 C A 7: 9,774,240 (GRCm39) probably null Het
Wdr3 T A 3: 100,049,810 (GRCm39) M773L probably benign Het
Zfp993 T G 4: 146,739,415 (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
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
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'- GGGTCCTACCATGTAAGCAGTC -3'
(R):5'- ACCAAACAGGAGTCACAATGTTAG -3'

Sequencing Primer
(F):5'- TGTAAGCAGTCTGAAAACCGATC -3'
(R):5'- ATGTTAGACTTCTGAACAGTCACCC -3'
Posted On 2020-01-23