Incidental Mutation 'R0157:Dab2'
ID |
22943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab2
|
Ensembl Gene |
ENSMUSG00000022150 |
Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
MMRRC Submission |
038437-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
R0157 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6459308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 407
(S407P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079689
(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
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 benign
Transcript: ENSMUST00000080880
AA Change: S407P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079689 Gene: ENSMUSG00000022150 AA Change: S407P
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 benign
Transcript: ENSMUST00000110663
|
SMART Domains |
Protein: ENSMUSP00000106291 Gene: ENSMUSG00000022150
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 benign
Transcript: ENSMUST00000110664
AA Change: S386P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106292 Gene: ENSMUSG00000022150 AA Change: S386P
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 benign
Transcript: ENSMUST00000160134
|
SMART Domains |
Protein: ENSMUSP00000125021 Gene: ENSMUSG00000022150
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163082
AA Change: S274P
|
SMART Domains |
Protein: ENSMUSP00000124996 Gene: ENSMUSG00000022150 AA Change: S274P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161558
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161812
|
SMART Domains |
Protein: ENSMUSP00000124589 Gene: ENSMUSG00000022150
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 |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.5%
|
Validation Efficiency |
64% (47/73) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap2 |
T |
A |
11: 80,056,527 (GRCm39) |
I180N |
probably damaging |
Het |
Alk |
T |
A |
17: 72,256,840 (GRCm39) |
N673I |
probably benign |
Het |
Ankrd7 |
T |
C |
6: 18,866,539 (GRCm39) |
S20P |
probably damaging |
Het |
Arhgef26 |
T |
G |
3: 62,288,392 (GRCm39) |
D487E |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,845,475 (GRCm39) |
D1500G |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,835,812 (GRCm39) |
I39V |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,256,326 (GRCm39) |
I208N |
probably damaging |
Het |
Atad5 |
T |
C |
11: 79,980,643 (GRCm39) |
V16A |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,835,809 (GRCm39) |
I518T |
probably damaging |
Het |
B130006D01Rik |
T |
C |
11: 95,617,211 (GRCm39) |
|
probably benign |
Het |
BC028528 |
A |
G |
3: 95,792,280 (GRCm39) |
|
probably null |
Het |
Bpifb6 |
T |
A |
2: 153,745,886 (GRCm39) |
L74Q |
probably benign |
Het |
Bptf |
T |
C |
11: 106,965,484 (GRCm39) |
T1122A |
possibly damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,289,385 (GRCm39) |
D806E |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,111,649 (GRCm39) |
Q287R |
possibly damaging |
Het |
Cdk12 |
A |
G |
11: 98,140,602 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
A |
1: 189,384,556 (GRCm39) |
T2575S |
probably benign |
Het |
Chd7 |
T |
A |
4: 8,833,759 (GRCm39) |
I1171N |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,735,464 (GRCm39) |
|
probably null |
Het |
Ckmt1 |
A |
G |
2: 121,193,522 (GRCm39) |
T361A |
possibly damaging |
Het |
Clec4d |
G |
T |
6: 123,244,095 (GRCm39) |
R68L |
probably benign |
Het |
Csmd2 |
G |
T |
4: 128,415,704 (GRCm39) |
V2678F |
probably benign |
Het |
Cul7 |
T |
A |
17: 46,964,761 (GRCm39) |
V131E |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 118,017,997 (GRCm39) |
G166D |
probably benign |
Het |
F13b |
G |
A |
1: 139,431,585 (GRCm39) |
V52I |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,549 (GRCm39) |
I176M |
probably benign |
Het |
Hoxc11 |
A |
G |
15: 102,863,436 (GRCm39) |
Y159C |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,026,642 (GRCm39) |
I120T |
possibly damaging |
Het |
Il20rb |
A |
G |
9: 100,355,132 (GRCm39) |
Y104H |
probably damaging |
Het |
Krtap21-1 |
A |
G |
16: 89,200,430 (GRCm39) |
C71R |
unknown |
Het |
Lamc1 |
T |
C |
1: 153,138,353 (GRCm39) |
D167G |
probably benign |
Het |
Lin7c |
C |
A |
2: 109,725,514 (GRCm39) |
A73E |
probably damaging |
Het |
Meiosin |
T |
C |
7: 18,840,945 (GRCm39) |
H63R |
possibly damaging |
Het |
Mms22l |
C |
A |
4: 24,588,224 (GRCm39) |
A952E |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,973,735 (GRCm39) |
N136S |
probably benign |
Het |
Ndufb10 |
T |
C |
17: 24,943,218 (GRCm39) |
T31A |
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,311,769 (GRCm39) |
Y37C |
possibly damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,885 (GRCm39) |
F275S |
probably damaging |
Het |
Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
Orc3 |
C |
A |
4: 34,607,130 (GRCm39) |
|
probably null |
Het |
Pard3b |
A |
C |
1: 62,250,792 (GRCm39) |
M512L |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,334,136 (GRCm39) |
D150G |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,608,741 (GRCm39) |
|
probably null |
Het |
Pdcl |
A |
C |
2: 37,242,189 (GRCm39) |
I187S |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,419,449 (GRCm39) |
I51M |
probably damaging |
Het |
Pla2g4e |
T |
A |
2: 120,000,662 (GRCm39) |
T692S |
probably benign |
Het |
Plcb2 |
C |
A |
2: 118,549,022 (GRCm39) |
V380F |
probably damaging |
Het |
Pmpcb |
A |
T |
5: 21,947,950 (GRCm39) |
I218F |
probably damaging |
Het |
Pms1 |
A |
T |
1: 53,234,196 (GRCm39) |
Y773* |
probably null |
Het |
Polr2e |
C |
T |
10: 79,872,615 (GRCm39) |
G184R |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,529,254 (GRCm39) |
I369V |
probably damaging |
Het |
Pramel21 |
C |
T |
4: 143,342,366 (GRCm39) |
P158S |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,068,014 (GRCm39) |
|
probably benign |
Het |
Pzp |
G |
A |
6: 128,500,939 (GRCm39) |
Q140* |
probably null |
Het |
Qrich2 |
T |
A |
11: 116,332,221 (GRCm39) |
E2325V |
probably damaging |
Het |
R3hdm2 |
T |
G |
10: 127,307,858 (GRCm39) |
L373R |
probably damaging |
Het |
Sema3d |
A |
T |
5: 12,558,104 (GRCm39) |
D212V |
possibly damaging |
Het |
Sidt2 |
A |
G |
9: 45,850,565 (GRCm39) |
I850T |
probably damaging |
Het |
Slc22a29 |
C |
T |
19: 8,140,106 (GRCm39) |
R433H |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Sox21 |
G |
A |
14: 118,473,354 (GRCm39) |
|
probably benign |
Het |
Steap3 |
A |
G |
1: 120,155,379 (GRCm39) |
*527R |
probably null |
Het |
Svep1 |
T |
C |
4: 58,069,830 (GRCm39) |
E2652G |
possibly damaging |
Het |
Taar2 |
T |
A |
10: 23,817,389 (GRCm39) |
F310I |
probably damaging |
Het |
Tasor2 |
C |
A |
13: 3,625,550 (GRCm39) |
V1467L |
probably benign |
Het |
Tecta |
A |
G |
9: 42,286,307 (GRCm39) |
V783A |
probably benign |
Het |
Vmn1r173 |
T |
A |
7: 23,401,822 (GRCm39) |
I19N |
probably damaging |
Het |
Vwa5b1 |
T |
A |
4: 138,332,190 (GRCm39) |
M276L |
probably benign |
Het |
Yeats2 |
A |
C |
16: 20,040,427 (GRCm39) |
*142C |
probably null |
Het |
Zfp26 |
G |
T |
9: 20,349,166 (GRCm39) |
T466K |
probably benign |
Het |
Zfp426 |
T |
C |
9: 20,382,432 (GRCm39) |
N171S |
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 |
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 |
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'- AGCTCTCTAACCGGACTGGCAAAC -3'
(R):5'- TTTCCTGAAGGACCGATGTGCCTC -3'
Sequencing Primer
(F):5'- TGGCAAACCGGAAGCTC -3'
(R):5'- ACCACCCTTTGGTAACGAG -3'
|
Posted On |
2013-04-16 |