Incidental Mutation 'R1837:Dab2'
| ID |
205433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab2
|
| Ensembl Gene |
ENSMUSG00000022150 |
| Gene Name |
disabled 2, mitogen-responsive phosphoprotein |
| Synonyms |
5730435J12Rik, D15Wsu122e, D630005B22Rik, p96 |
| MMRRC Submission |
039864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R1837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6329269-6470193 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 6365957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078019]
[ENSMUST00000159046]
[ENSMUST00000161040]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000063320
AA Change: T118A
|
| 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: ENSMUST00000159046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159552
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162140
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
G |
T |
2: 154,394,962 (GRCm39) |
G305W |
probably damaging |
Het |
| Actr3b |
A |
T |
5: 26,030,157 (GRCm39) |
T74S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,095,540 (GRCm39) |
E652G |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,615 (GRCm39) |
V83D |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
| BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
| Bcr |
A |
G |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Bzw1 |
A |
G |
1: 58,439,277 (GRCm39) |
K67E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Cdc73 |
T |
A |
1: 143,543,395 (GRCm39) |
T314S |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,728,813 (GRCm39) |
T31A |
probably damaging |
Het |
| Cfap58 |
G |
A |
19: 48,017,578 (GRCm39) |
E813K |
probably damaging |
Het |
| Clstn2 |
C |
A |
9: 97,465,593 (GRCm39) |
A133S |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,245,891 (GRCm39) |
D465V |
unknown |
Het |
| Col2a1 |
C |
T |
15: 97,894,522 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
T |
C |
11: 94,536,787 (GRCm39) |
D464G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,802 (GRCm39) |
|
probably null |
Het |
| Ern1 |
C |
A |
11: 106,349,783 (GRCm39) |
L44F |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,816 (GRCm39) |
S188R |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,610,639 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,750,379 (GRCm39) |
N226D |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,415,128 (GRCm39) |
D214G |
probably benign |
Het |
| Gm14226 |
A |
G |
2: 154,866,930 (GRCm39) |
I296V |
probably benign |
Het |
| Gm9915 |
A |
T |
1: 42,269,847 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
T |
C |
17: 79,128,180 (GRCm39) |
D485G |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,082 (GRCm39) |
I2785N |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,367 (GRCm39) |
T723M |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,257 (GRCm39) |
H3595Q |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
| Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
| Krt7 |
A |
G |
15: 101,317,463 (GRCm39) |
D252G |
probably benign |
Het |
| Lad1 |
C |
A |
1: 135,757,444 (GRCm39) |
D394E |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,033,692 (GRCm39) |
C38S |
possibly damaging |
Het |
| Lta4h |
C |
T |
10: 93,305,037 (GRCm39) |
T280M |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Med1 |
G |
T |
11: 98,060,238 (GRCm39) |
D230E |
probably damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,409 (GRCm39) |
F171I |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,639,273 (GRCm39) |
E135G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,360,823 (GRCm39) |
M1378K |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,604 (GRCm39) |
Q286L |
possibly damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,408 (GRCm39) |
G391R |
probably damaging |
Het |
| Nefl |
C |
T |
14: 68,324,075 (GRCm39) |
R438C |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,742 (GRCm39) |
V440I |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,343,296 (GRCm39) |
L1959Q |
probably damaging |
Het |
| Noto |
A |
G |
6: 85,401,159 (GRCm39) |
T63A |
probably benign |
Het |
| Oc90 |
G |
A |
15: 65,761,529 (GRCm39) |
T163M |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,114 (GRCm39) |
M287K |
probably benign |
Het |
| Or4c114 |
A |
T |
2: 88,905,176 (GRCm39) |
Y86* |
probably null |
Het |
| Or5an10 |
A |
G |
19: 12,275,740 (GRCm39) |
V252A |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
| Phlda1 |
A |
G |
10: 111,343,092 (GRCm39) |
Q276R |
probably benign |
Het |
| Ptpn21 |
T |
G |
12: 98,699,885 (GRCm39) |
K10Q |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,531 (GRCm39) |
E1364G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,484 (GRCm39) |
W237R |
probably damaging |
Het |
| Rai1 |
A |
T |
11: 60,080,224 (GRCm39) |
K1429N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,438 (GRCm39) |
I1027M |
probably damaging |
Het |
| Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
| Rpap1 |
A |
C |
2: 119,600,366 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,978,879 (GRCm39) |
C471S |
probably benign |
Het |
| Slc16a14 |
A |
G |
1: 84,890,120 (GRCm39) |
V395A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,722,916 (GRCm39) |
G323S |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,014,434 (GRCm39) |
E3208D |
probably damaging |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,799 (GRCm39) |
E432G |
possibly damaging |
Het |
| Tmem192 |
C |
A |
8: 65,416,992 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
T |
C |
19: 57,441,461 (GRCm39) |
V28A |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,028,106 (GRCm39) |
L1121H |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,735,764 (GRCm39) |
D290G |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,247 (GRCm39) |
G683D |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,291 (GRCm39) |
F255I |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,886 (GRCm39) |
I289F |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Wdr48 |
T |
G |
9: 119,734,482 (GRCm39) |
S134A |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,962,350 (GRCm39) |
Y139N |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,107 (GRCm39) |
V486A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,048 (GRCm39) |
T679A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,810,264 (GRCm39) |
S927P |
probably damaging |
Het |
| Zfp324 |
C |
T |
7: 12,704,156 (GRCm39) |
T115I |
probably benign |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,070,247 (GRCm39) |
C551S |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
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 |
|
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 |
|
|
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'- AGGATCTCACACTTCCTCGAG -3'
(R):5'- GGAGCAAGTCAGTCATCATCC -3'
Sequencing Primer
(F):5'- GGATCTCACACTTCCTCGAGATGAAC -3'
(R):5'- GAGCAAGTCAGTCATCATCCTTGAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation