Incidental Mutation 'R5996:Dab2'
ID |
481153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2
|
Ensembl Gene |
ENSMUSG00000022150 |
Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
MMRRC Submission |
044175-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
R5996 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 6464792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 415
(Q415*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000161812]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000078019
AA Change: Q330*
|
SMART Domains |
Protein: ENSMUSP00000077166 Gene: ENSMUSG00000022150 AA Change: Q330*
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 null
Transcript: ENSMUST00000080880
AA Change: Q548*
|
SMART Domains |
Protein: ENSMUSP00000079689 Gene: ENSMUSG00000022150 AA Change: Q548*
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 null
Transcript: ENSMUST00000110663
AA Change: Q330*
|
SMART Domains |
Protein: ENSMUSP00000106291 Gene: ENSMUSG00000022150 AA Change: Q330*
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 null
Transcript: ENSMUST00000110664
AA Change: Q527*
|
SMART Domains |
Protein: ENSMUSP00000106292 Gene: ENSMUSG00000022150 AA Change: Q527*
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 |
probably null
Transcript: ENSMUST00000161812
AA Change: Q309*
|
SMART Domains |
Protein: ENSMUSP00000124589 Gene: ENSMUSG00000022150 AA Change: Q309*
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 null
Transcript: ENSMUST00000163082
AA Change: Q415*
|
SMART Domains |
Protein: ENSMUSP00000124996 Gene: ENSMUSG00000022150 AA Change: Q415*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
97% (69/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Acan |
A |
G |
7: 78,761,068 (GRCm39) |
T1927A |
probably damaging |
Het |
Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,367,152 (GRCm39) |
G477R |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,908,057 (GRCm39) |
R6K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
Togaram2 |
T |
A |
17: 72,011,778 (GRCm39) |
F486I |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,340,589 (GRCm39) |
E668D |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
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 |
|
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 |
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'- TGAAAATGCCATGATGAAGCCC -3'
(R):5'- TGGCCAGAACAGAGGACATC -3'
Sequencing Primer
(F):5'- GCCATGATGAAGCCCATTATTTC -3'
(R):5'- CCAGAACAGAGGACATCATAGGCTG -3'
|
Posted On |
2017-06-26 |