Incidental Mutation 'R4551:Dab2'
ID |
333975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2
|
Ensembl Gene |
ENSMUSG00000022150 |
Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
MMRRC Submission |
041782-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
R4551 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 6464775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 324
(G324D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000161812]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078019
AA Change: G324D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000077166 Gene: ENSMUSG00000022150 AA Change: G324D
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 |
possibly damaging
Transcript: ENSMUST00000080880
AA Change: G542D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079689 Gene: ENSMUSG00000022150 AA Change: G542D
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 |
probably damaging
Transcript: ENSMUST00000110663
AA Change: G324D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106291 Gene: ENSMUSG00000022150 AA Change: G324D
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 |
possibly damaging
Transcript: ENSMUST00000110664
AA Change: G521D
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106292 Gene: ENSMUSG00000022150 AA Change: G521D
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 |
noncoding transcript
Transcript: ENSMUST00000159552
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161812
AA Change: G303D
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124589 Gene: ENSMUSG00000022150 AA Change: G303D
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 |
unknown
Transcript: ENSMUST00000163082
AA Change: G409D
|
SMART Domains |
Protein: ENSMUSP00000124996 Gene: ENSMUSG00000022150 AA Change: G409D
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 |
|
Meta Mutation Damage Score |
0.0762 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (71/71) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
G |
11: 119,902,395 (GRCm39) |
E610A |
probably benign |
Het |
Abhd17b |
T |
C |
19: 21,658,290 (GRCm39) |
S176P |
possibly damaging |
Het |
Adgrg7 |
A |
G |
16: 56,568,375 (GRCm39) |
Y427H |
probably damaging |
Het |
Alox15 |
T |
A |
11: 70,235,422 (GRCm39) |
I647L |
probably benign |
Het |
Ankhd1 |
C |
A |
18: 36,788,560 (GRCm39) |
|
probably null |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
Cog6 |
T |
A |
3: 52,905,741 (GRCm39) |
E96V |
probably damaging |
Het |
Cox20 |
A |
C |
1: 178,150,114 (GRCm39) |
N96T |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,273,934 (GRCm39) |
I351V |
probably benign |
Het |
Cpd |
C |
T |
11: 76,702,712 (GRCm39) |
G552D |
probably damaging |
Het |
Cyld |
A |
G |
8: 89,433,762 (GRCm39) |
K184E |
possibly damaging |
Het |
Depdc1a |
T |
A |
3: 159,228,221 (GRCm39) |
D324E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
Dync1i1 |
T |
A |
6: 5,923,206 (GRCm39) |
D275E |
probably benign |
Het |
Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
Farp2 |
T |
A |
1: 93,546,314 (GRCm39) |
L868Q |
possibly damaging |
Het |
Gpr45 |
A |
G |
1: 43,071,950 (GRCm39) |
T198A |
probably benign |
Het |
Grk2 |
C |
T |
19: 4,336,084 (GRCm39) |
V402M |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
Gtf2h3 |
A |
G |
5: 124,728,482 (GRCm39) |
|
probably benign |
Het |
Hus1b |
C |
A |
13: 31,131,059 (GRCm39) |
S200I |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
Ikbke |
T |
C |
1: 131,185,770 (GRCm39) |
|
probably benign |
Het |
Kat6b |
A |
G |
14: 21,711,516 (GRCm39) |
E670G |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
Lhx3 |
G |
A |
2: 26,091,202 (GRCm39) |
P369L |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,981,123 (GRCm39) |
S366T |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,871,662 (GRCm39) |
I607N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,281,479 (GRCm39) |
I65T |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,467,874 (GRCm39) |
I187T |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,118,161 (GRCm39) |
S822G |
probably benign |
Het |
Nkx2-4 |
C |
A |
2: 146,926,842 (GRCm39) |
A142S |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
Or12k7 |
G |
T |
2: 36,958,355 (GRCm39) |
V13L |
probably benign |
Het |
Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
Or56b1 |
A |
T |
7: 104,285,631 (GRCm39) |
H250L |
probably damaging |
Het |
Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,887 (GRCm39) |
F616L |
probably damaging |
Het |
Pdk3 |
A |
T |
X: 92,825,846 (GRCm39) |
M253K |
probably damaging |
Het |
Pgap2 |
C |
A |
7: 101,875,674 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
A |
15: 44,414,281 (GRCm39) |
N2849K |
probably damaging |
Het |
Pprc1 |
A |
G |
19: 46,055,664 (GRCm39) |
|
probably benign |
Het |
Psma2 |
A |
G |
13: 14,791,430 (GRCm39) |
Y25C |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpn5 |
C |
A |
7: 46,740,600 (GRCm39) |
|
probably benign |
Het |
Pxn |
G |
T |
5: 115,690,779 (GRCm39) |
|
probably benign |
Het |
Scd3 |
C |
A |
19: 44,203,878 (GRCm39) |
A22E |
probably benign |
Het |
Sdr42e1 |
T |
C |
8: 118,390,347 (GRCm39) |
E98G |
probably benign |
Het |
Slc14a2 |
A |
C |
18: 78,239,068 (GRCm39) |
S184A |
probably benign |
Het |
Tmem236 |
A |
T |
2: 14,223,964 (GRCm39) |
Q251L |
probably benign |
Het |
Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
Vmn1r90 |
A |
C |
7: 14,295,894 (GRCm39) |
M68R |
possibly damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,446,613 (GRCm39) |
V462A |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,110 (GRCm39) |
T816A |
possibly damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,104,241 (GRCm39) |
I288K |
possibly damaging |
Het |
Zfp180 |
A |
C |
7: 23,803,998 (GRCm39) |
K139T |
possibly damaging |
Het |
Zfp932 |
T |
C |
5: 110,157,505 (GRCm39) |
V401A |
probably benign |
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 |
|
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'- AAGAATCCTCTTCAAGTTTGTCTCC -3'
(R):5'- TGGCCAGAACAGAGGACATC -3'
Sequencing Primer
(F):5'- TTCAAGTTTGTCTCCTGATAACTTC -3'
(R):5'- CCAGAACAGAGGACATCATAGGCTG -3'
|
Posted On |
2015-08-18 |