Incidental Mutation 'R7040:Dab2'
ID 547017
Institutional Source Beutler Lab
Gene Symbol Dab2
Ensembl Gene ENSMUSG00000022150
Gene Name disabled 2, mitogen-responsive phosphoprotein
Synonyms 5730435J12Rik, D15Wsu122e, D630005B22Rik, p96
MMRRC Submission 045013-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R7040 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 6329269-6470193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 6451732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 116 (H116P)
Ref Sequence ENSEMBL: ENSMUSP00000124589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110663] [ENSMUST00000110664] [ENSMUST00000159490] [ENSMUST00000160134] [ENSMUST00000161040] [ENSMUST00000161812] [ENSMUST00000162094]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000078019
AA Change: H116P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
AA Change: H116P

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 damaging
Transcript: ENSMUST00000080880
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: H116P

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 possibly damaging
Transcript: ENSMUST00000110663
AA Change: H116P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
AA Change: H116P

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 damaging
Transcript: ENSMUST00000110664
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: H116P

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 benign
Transcript: ENSMUST00000159490
SMART Domains Protein: ENSMUSP00000124145
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PDB:1P3R|C 35 60 4e-11 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000160134
AA Change: H116P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: H116P

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161040
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
AA Change: H116P

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161812
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150
AA Change: H116P

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: ENSMUST00000162094
SMART Domains Protein: ENSMUSP00000125696
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
Pfam:PID 50 110 2.8e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: H4P

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,835,897 (GRCm39) L232P possibly damaging Het
Acaa1a T C 9: 119,178,104 (GRCm39) V312A probably damaging Het
Bmp2 A G 2: 133,403,604 (GRCm39) D385G probably damaging Het
C1qtnf9 T C 14: 61,017,241 (GRCm39) V257A probably damaging Het
Cd3d G A 9: 44,896,991 (GRCm39) V122I probably damaging Het
Cdc37 T C 9: 21,053,519 (GRCm39) E199G probably damaging Het
Crb2 T A 2: 37,677,696 (GRCm39) D326E probably benign Het
Cyp2c29 A C 19: 39,318,781 (GRCm39) K420N possibly damaging Het
Cyp2g1 A C 7: 26,520,184 (GRCm39) D472A probably damaging Het
Dnah7b G C 1: 46,275,969 (GRCm39) E2619Q probably benign Het
Dsg4 A T 18: 20,584,909 (GRCm39) M208L probably benign Het
Eif4enif1 T G 11: 3,184,040 (GRCm39) V521G probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fpr-rs6 A G 17: 20,403,196 (GRCm39) M55T probably damaging Het
Grhpr A G 4: 44,985,362 (GRCm39) S101G probably damaging Het
Kif15 T A 9: 122,840,679 (GRCm39) D33E possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,936,158 (GRCm39) Q611R possibly damaging Het
Lrrc47 T A 4: 154,104,909 (GRCm39) *123R probably null Het
Map4k3 A C 17: 80,988,344 (GRCm39) V36G probably damaging Het
Mme T A 3: 63,276,344 (GRCm39) I707N probably damaging Het
Muc2 A G 7: 141,305,194 (GRCm39) E166G unknown Het
Mucl1 T A 15: 103,783,844 (GRCm39) T108S possibly damaging Het
Myo1h A T 5: 114,497,805 (GRCm39) D53V possibly damaging Het
Naa15 T A 3: 51,380,205 (GRCm39) L811Q possibly damaging Het
Nalcn T C 14: 123,525,267 (GRCm39) T1487A probably benign Het
Nme8 A T 13: 19,878,498 (GRCm39) L87H probably damaging Het
Nr2e1 A G 10: 42,444,374 (GRCm39) V245A probably damaging Het
Nt5c2 A T 19: 46,881,974 (GRCm39) F291Y possibly damaging Het
Ooep T C 9: 78,285,683 (GRCm39) N43S possibly damaging Het
Or10ak13 T C 4: 118,639,183 (GRCm39) M200V probably benign Het
Or4e1 T C 14: 52,700,932 (GRCm39) D178G possibly damaging Het
Or52i2 A T 7: 102,319,937 (GRCm39) Q270L probably benign Het
Or52n2c A T 7: 104,574,717 (GRCm39) C85S probably benign Het
Ovch2 A T 7: 107,395,772 (GRCm39) I82N probably damaging Het
Palb2 A T 7: 121,713,622 (GRCm39) M524K possibly damaging Het
Patj T C 4: 98,329,317 (GRCm39) S524P probably benign Het
Patl1 T A 19: 11,907,318 (GRCm39) Y401N possibly damaging Het
Pcdhb20 A T 18: 37,637,770 (GRCm39) T99S probably benign Het
Plcb4 G A 2: 135,774,182 (GRCm39) A155T probably benign Het
Rpap3 A G 15: 97,576,993 (GRCm39) V585A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spen T A 4: 141,221,693 (GRCm39) T302S unknown Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Ube2o T C 11: 116,432,686 (GRCm39) E760G probably benign Het
Uimc1 T A 13: 55,223,267 (GRCm39) probably null Het
Usp16 C T 16: 87,277,817 (GRCm39) A689V probably damaging Het
Vmn2r60 G A 7: 41,791,666 (GRCm39) A530T probably benign Het
Vps8 T A 16: 21,393,772 (GRCm39) M1185K probably damaging Het
Vwa8 T C 14: 79,149,645 (GRCm39) S136P probably damaging Het
Ythdc2 A G 18: 44,967,529 (GRCm39) N175S probably benign Het
Zfp160 A T 17: 21,246,794 (GRCm39) H448L probably damaging Het
Zfp90 T A 8: 107,151,641 (GRCm39) C451* probably null Het
Zfp945 A G 17: 23,071,264 (GRCm39) C212R probably 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
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
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'- AAATCTAGATGTAGCCTTGAACCC -3'
(R):5'- TGGCCTAATGAAATGTTTCCAGTAC -3'

Sequencing Primer
(F):5'- TTAAACTCACCGGGCATTGG -3'
(R):5'- AGTTTGAAGCCTGCCAAGTC -3'
Posted On 2019-05-13