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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |