Incidental Mutation 'R0488:Dab2'
| ID |
42431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2
|
| Ensembl Gene |
ENSMUSG00000022150 |
| Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
| Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
| MMRRC Submission |
038687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R0488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6454135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 215
(L215S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000080880]
[ENSMUST00000110663]
[ENSMUST00000110664]
[ENSMUST00000160134]
[ENSMUST00000161040]
[ENSMUST00000162094]
[ENSMUST00000161812]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078019
AA Change: L215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
AA Change: L215S
| 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: L215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: L215S
| 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: L215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
AA Change: L215S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106292
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
|
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 damaging
Transcript: ENSMUST00000160134
AA Change: L215S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: L215S
| 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: L215S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
AA Change: L215S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PTB
|
45 |
179 |
1.16e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161558
|
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163082
|
| SMART Domains |
Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
| 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 |
0.3164 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
G |
11: 46,029,757 (GRCm39) |
L734R |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,621,302 (GRCm39) |
I513T |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,552,541 (GRCm39) |
V654A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,548,611 (GRCm39) |
Y1249* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,697,891 (GRCm39) |
Q996H |
probably damaging |
Het |
| Aqp12 |
T |
C |
1: 92,936,378 (GRCm39) |
Y235H |
probably damaging |
Het |
| Arsb |
T |
C |
13: 94,077,013 (GRCm39) |
V460A |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,444 (GRCm39) |
|
probably null |
Het |
| Cd44 |
T |
C |
2: 102,664,564 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,441 (GRCm39) |
I192N |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,941,712 (GRCm39) |
D14G |
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,187,967 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
G |
A |
8: 106,025,171 (GRCm39) |
V84I |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,558,043 (GRCm39) |
T197A |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,740,837 (GRCm39) |
M121L |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,841,207 (GRCm39) |
V757A |
probably damaging |
Het |
| Etv5 |
T |
A |
16: 22,231,695 (GRCm39) |
I106F |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,187 (GRCm39) |
Y298* |
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,798,666 (GRCm39) |
L609S |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,623,031 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr1 |
A |
G |
11: 46,643,398 (GRCm39) |
Y106C |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,076,506 (GRCm39) |
N2110S |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,798 (GRCm39) |
K162E |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,169,699 (GRCm39) |
Y217C |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,488,030 (GRCm39) |
G32C |
probably damaging |
Het |
| Mnat1 |
T |
A |
12: 73,217,413 (GRCm39) |
N96K |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,952,427 (GRCm39) |
R349S |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,402,544 (GRCm39) |
I59F |
probably benign |
Het |
| Mybl2 |
T |
C |
2: 162,914,534 (GRCm39) |
|
probably benign |
Het |
| Otogl |
T |
C |
10: 107,639,466 (GRCm39) |
E1382G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,313 (GRCm39) |
E1150G |
unknown |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Pla2g4a |
G |
A |
1: 149,747,196 (GRCm39) |
T322M |
probably damaging |
Het |
| Pramel11 |
A |
T |
4: 143,621,973 (GRCm39) |
Y461N |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,653 (GRCm38) |
D455V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,745 (GRCm39) |
T1162A |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,723 (GRCm39) |
N55D |
possibly damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,279,600 (GRCm39) |
E543G |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,437,934 (GRCm39) |
T103I |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,113,662 (GRCm39) |
Y101C |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,479,086 (GRCm39) |
S979T |
probably damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,311 (GRCm39) |
E728K |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,087 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,067,591 (GRCm39) |
Y1457C |
probably damaging |
Het |
| Wsb1 |
T |
C |
11: 79,135,326 (GRCm39) |
D225G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,165 (GRCm39) |
S2469P |
possibly damaging |
Het |
| Zeb1 |
T |
A |
18: 5,772,455 (GRCm39) |
C915S |
probably damaging |
Het |
| Znfx1 |
C |
A |
2: 166,884,483 (GRCm39) |
R923L |
possibly 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 |
|
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'- CCTACACTGACACAAGCAGCCTGAT -3'
(R):5'- TTGCCAATAGCAGGTGTTCAGGAAA -3'
Sequencing Primer
(F):5'- CTACAATCCAATCGTGACAACTG -3'
(R):5'- CTGATCCCAAGTTATTACCAAGAAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation