Incidental Mutation 'R7090:Daam2'
| ID |
550182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daam2
|
| Ensembl Gene |
ENSMUSG00000040260 |
| Gene Name |
dishevelled associated activator of morphogenesis 2 |
| Synonyms |
2310016D11Rik |
| MMRRC Submission |
045184-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49763050-49871371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49789973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 428
(V428A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057610]
[ENSMUST00000224595]
|
| AlphaFold |
Q80U19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057610
AA Change: V428A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: V428A
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
40 |
228 |
4.89e-61 |
SMART |
|
Drf_FH3
|
231 |
429 |
1.19e-73 |
SMART |
|
Blast:FH2
|
476 |
513 |
4e-10 |
BLAST |
|
low complexity region
|
514 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
576 |
N/A |
INTRINSIC |
|
FH2
|
595 |
1085 |
7.36e-99 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224595
AA Change: V428A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.4399 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm3 |
A |
T |
7: 16,651,004 (GRCm39) |
Y139* |
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,112,523 (GRCm39) |
N584S |
probably benign |
Het |
| Cdh24 |
C |
G |
14: 54,876,964 (GRCm39) |
G13A |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,452,677 (GRCm39) |
K1281E |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,409,816 (GRCm39) |
G4C |
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,811,765 (GRCm39) |
P2488T |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,016,535 (GRCm39) |
S441G |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,255,581 (GRCm39) |
T2426A |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,746,582 (GRCm39) |
K881N |
possibly damaging |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,714,800 (GRCm39) |
S120P |
unknown |
Het |
| Fyco1 |
A |
G |
9: 123,626,784 (GRCm39) |
L1309S |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,201,114 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm5901 |
A |
G |
7: 105,026,555 (GRCm39) |
T108A |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,637 (GRCm39) |
V292A |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,369,169 (GRCm39) |
Y1149N |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,572,529 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,498 (GRCm39) |
|
probably null |
Het |
| Lipn |
T |
A |
19: 34,049,180 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lpin3 |
T |
G |
2: 160,738,672 (GRCm39) |
L208R |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,855,048 (GRCm39) |
Q354K |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,929,566 (GRCm39) |
C1680F |
possibly damaging |
Het |
| Mtss2 |
T |
A |
8: 111,456,656 (GRCm39) |
V242E |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,131,765 (GRCm39) |
Y477C |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,981,350 (GRCm39) |
S481T |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,257,062 (GRCm39) |
Y146H |
probably damaging |
Het |
| Ntng1 |
A |
T |
3: 109,842,496 (GRCm39) |
C92* |
probably null |
Het |
| Or10ad1b |
C |
T |
15: 98,125,083 (GRCm39) |
V150I |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,385 (GRCm39) |
G302D |
probably benign |
Het |
| Or8k18 |
T |
A |
2: 86,085,420 (GRCm39) |
N206Y |
probably damaging |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,471 (GRCm39) |
I17V |
probably benign |
Het |
| Os9 |
A |
T |
10: 126,935,547 (GRCm39) |
S308T |
probably benign |
Het |
| Otx2 |
T |
A |
14: 48,896,192 (GRCm39) |
T289S |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,648,042 (GRCm39) |
A60V |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,378 (GRCm39) |
T675A |
possibly damaging |
Het |
| Pink1 |
C |
T |
4: 138,042,912 (GRCm39) |
E461K |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,967,809 (GRCm39) |
S543P |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,611 (GRCm39) |
T454A |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab31 |
C |
T |
17: 66,005,012 (GRCm39) |
V83I |
possibly damaging |
Het |
| Rabggtb |
G |
T |
3: 153,615,986 (GRCm39) |
D117E |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 156,994,820 (GRCm39) |
H951R |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,091 (GRCm39) |
S314G |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,475,264 (GRCm39) |
L164P |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,760 (GRCm39) |
E541G |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,565,460 (GRCm39) |
G208* |
probably null |
Het |
| Smco2 |
A |
G |
6: 146,772,711 (GRCm39) |
I304M |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,818,491 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
T |
C |
4: 129,847,691 (GRCm39) |
F552L |
|
Het |
| St6galnac2 |
T |
C |
11: 116,568,461 (GRCm39) |
D334G |
probably damaging |
Het |
| Sub1 |
A |
G |
15: 11,986,572 (GRCm39) |
S92P |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,989,125 (GRCm39) |
F1829L |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,839,833 (GRCm39) |
V631A |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,958,904 (GRCm39) |
S113P |
probably benign |
Het |
| Tgfbrap1 |
A |
C |
1: 43,110,725 (GRCm39) |
V260G |
probably damaging |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,338 (GRCm39) |
V1015A |
probably benign |
Het |
| Usp5 |
A |
G |
6: 124,806,357 (GRCm39) |
M1T |
probably null |
Het |
| Utrn |
T |
C |
10: 12,560,260 (GRCm39) |
D1343G |
possibly damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,254 (GRCm39) |
Y328C |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,972 (GRCm39) |
E564V |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,777,241 (GRCm39) |
T133A |
possibly damaging |
Het |
|
| Other mutations in Daam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02150:Daam2
|
APN |
17 |
49,797,332 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02373:Daam2
|
APN |
17 |
49,780,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Daam2
|
APN |
17 |
49,797,282 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02793:Daam2
|
APN |
17 |
49,771,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Daam2
|
APN |
17 |
49,776,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Daam2
|
APN |
17 |
49,771,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03370:Daam2
|
APN |
17 |
49,793,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0145:Daam2
|
UTSW |
17 |
49,787,806 (GRCm39) |
missense |
probably benign |
|
|
R0310:Daam2
|
UTSW |
17 |
49,770,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0362:Daam2
|
UTSW |
17 |
49,787,813 (GRCm39) |
splice site |
probably null |
|
|
R0423:Daam2
|
UTSW |
17 |
49,776,449 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Daam2
|
UTSW |
17 |
49,805,911 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0928:Daam2
|
UTSW |
17 |
49,795,255 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1444:Daam2
|
UTSW |
17 |
49,787,779 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1559:Daam2
|
UTSW |
17 |
49,803,148 (GRCm39) |
splice site |
probably benign |
|
|
R1733:Daam2
|
UTSW |
17 |
49,797,231 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1919:Daam2
|
UTSW |
17 |
49,792,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1930:Daam2
|
UTSW |
17 |
49,769,241 (GRCm39) |
splice site |
probably null |
|
|
R1968:Daam2
|
UTSW |
17 |
49,790,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Daam2
|
UTSW |
17 |
49,787,785 (GRCm39) |
nonsense |
probably null |
|
|
R3004:Daam2
|
UTSW |
17 |
49,767,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3726:Daam2
|
UTSW |
17 |
49,776,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Daam2
|
UTSW |
17 |
49,765,624 (GRCm39) |
missense |
probably benign |
|
|
R4833:Daam2
|
UTSW |
17 |
49,797,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4878:Daam2
|
UTSW |
17 |
49,767,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Daam2
|
UTSW |
17 |
49,783,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Daam2
|
UTSW |
17 |
49,783,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Daam2
|
UTSW |
17 |
49,801,419 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5419:Daam2
|
UTSW |
17 |
49,787,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5529:Daam2
|
UTSW |
17 |
49,766,085 (GRCm39) |
missense |
probably benign |
|
|
R5974:Daam2
|
UTSW |
17 |
49,771,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Daam2
|
UTSW |
17 |
49,766,232 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6032:Daam2
|
UTSW |
17 |
49,793,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Daam2
|
UTSW |
17 |
49,793,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Daam2
|
UTSW |
17 |
49,793,530 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6180:Daam2
|
UTSW |
17 |
49,776,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6225:Daam2
|
UTSW |
17 |
49,801,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6385:Daam2
|
UTSW |
17 |
49,770,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6426:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Daam2
|
UTSW |
17 |
49,776,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Daam2
|
UTSW |
17 |
49,776,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Daam2
|
UTSW |
17 |
49,767,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Daam2
|
UTSW |
17 |
49,793,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7599:Daam2
|
UTSW |
17 |
49,787,755 (GRCm39) |
nonsense |
probably null |
|
|
R7763:Daam2
|
UTSW |
17 |
49,797,050 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8039:Daam2
|
UTSW |
17 |
49,771,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Daam2
|
UTSW |
17 |
49,803,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Daam2
|
UTSW |
17 |
49,769,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Daam2
|
UTSW |
17 |
49,786,922 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9508:Daam2
|
UTSW |
17 |
49,765,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Daam2
|
UTSW |
17 |
49,780,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V1662:Daam2
|
UTSW |
17 |
49,771,629 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Daam2
|
UTSW |
17 |
49,796,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Daam2
|
UTSW |
17 |
49,771,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGAGCAGGCTTTTGTATAC -3'
(R):5'- TAGCTCCCTGAGAGGCATAAAGG -3'
Sequencing Primer
(F):5'- GGAGCAGGCTTTTGTATACTATGAAC -3'
(R):5'- ACTGACCTGAGCTTAGGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation