Incidental Mutation 'R0517:Odad2'
| ID |
48259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad2
|
| Ensembl Gene |
ENSMUSG00000061802 |
| Gene Name |
outer dynein arm docking complex subunit 2 |
| Synonyms |
b2b227.1Clo, Armc4, b2b643Clo, 4930463I21Rik |
| MMRRC Submission |
038710-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R0517 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
7088209-7297936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 7223621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 474
(L474R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081275]
|
| AlphaFold |
B2RY50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081275
AA Change: L474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: L474R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
428 |
N/A |
INTRINSIC |
|
ARM
|
475 |
516 |
1.38e1 |
SMART |
|
ARM
|
517 |
557 |
2.38e-2 |
SMART |
|
ARM
|
558 |
613 |
3.97e0 |
SMART |
|
ARM
|
614 |
654 |
2.59e-3 |
SMART |
|
ARM
|
655 |
695 |
3.48e1 |
SMART |
|
ARM
|
696 |
737 |
1.6e1 |
SMART |
|
ARM
|
738 |
778 |
4.09e0 |
SMART |
|
ARM
|
779 |
819 |
9.68e0 |
SMART |
|
ARM
|
861 |
903 |
3.52e0 |
SMART |
|
ARM
|
904 |
944 |
1.26e1 |
SMART |
|
ARM
|
945 |
985 |
1.03e1 |
SMART |
|
ARM
|
986 |
1026 |
1.13e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit situs inversus totalis or heterotaxia with congenital heart disease including double outlet right ventricle and ventricular septal defects. Dyskinetic, slow, or immotile airway cilia are also observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,292,024 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
T |
C |
17: 57,262,569 (GRCm39) |
T194A |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,597,241 (GRCm39) |
D10Y |
possibly damaging |
Het |
| Adamts7 |
T |
C |
9: 90,081,911 (GRCm39) |
V1612A |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,282 (GRCm39) |
S373T |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,916,833 (GRCm39) |
I266F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,901,232 (GRCm39) |
I274K |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,221,126 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cerk |
G |
A |
15: 86,040,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,885,985 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,792 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,968 (GRCm39) |
S75P |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,354,662 (GRCm39) |
A146T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,935,410 (GRCm39) |
D171G |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,082 (GRCm39) |
N449S |
probably benign |
Het |
| Eps8l3 |
T |
C |
3: 107,790,776 (GRCm39) |
S189P |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,062 (GRCm39) |
E381G |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,799 (GRCm39) |
M473V |
possibly damaging |
Het |
| Fgf14 |
G |
A |
14: 124,221,196 (GRCm39) |
P203S |
probably damaging |
Het |
| Foxf2 |
C |
T |
13: 31,810,226 (GRCm39) |
A55V |
unknown |
Het |
| Galnt5 |
T |
G |
2: 57,925,385 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,429,416 (GRCm39) |
L181P |
probably damaging |
Het |
| Gm10000 |
T |
G |
12: 104,442,667 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,869,563 (GRCm39) |
S2959P |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,852 (GRCm39) |
N262D |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,841,665 (GRCm39) |
L526P |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,833,910 (GRCm39) |
I88F |
probably benign |
Het |
| Mpg |
A |
T |
11: 32,181,853 (GRCm39) |
H287L |
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,163,886 (GRCm39) |
Y489* |
probably null |
Het |
| Mpzl1 |
T |
C |
1: 165,429,359 (GRCm39) |
E224G |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,702,425 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
A |
4: 118,583,831 (GRCm39) |
I129K |
probably damaging |
Het |
| Or5m9 |
T |
C |
2: 85,877,548 (GRCm39) |
S241P |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,584,326 (GRCm39) |
F196I |
probably damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,383 (GRCm39) |
K1064* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,196 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,723,881 (GRCm39) |
S210G |
probably benign |
Het |
| Rbm15 |
A |
T |
3: 107,238,685 (GRCm39) |
L571Q |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,751 (GRCm39) |
T1194S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
G |
A |
12: 103,915,486 (GRCm39) |
T240I |
probably benign |
Het |
| Setx |
T |
G |
2: 29,047,145 (GRCm39) |
S1874R |
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,758,477 (GRCm39) |
T256K |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,366 (GRCm39) |
V300A |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,178 (GRCm39) |
Y59C |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,430,158 (GRCm39) |
F404L |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,394,452 (GRCm39) |
K62* |
probably null |
Het |
| Tas2r139 |
A |
C |
6: 42,118,425 (GRCm39) |
T186P |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,616,964 (GRCm39) |
T2367S |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,454 (GRCm39) |
S457N |
probably damaging |
Het |
| Tox4 |
A |
T |
14: 52,530,085 (GRCm39) |
S582C |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,747,133 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,797,845 (GRCm39) |
Q551K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,119,435 (GRCm39) |
T205A |
probably benign |
Het |
| Urb1 |
G |
A |
16: 90,574,310 (GRCm39) |
Q924* |
probably null |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,720 (GRCm39) |
L94P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,815,949 (GRCm39) |
Y802C |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Odad2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Odad2
|
APN |
18 |
7,211,504 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00822:Odad2
|
APN |
18 |
7,181,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Odad2
|
APN |
18 |
7,266,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01593:Odad2
|
APN |
18 |
7,127,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01645:Odad2
|
APN |
18 |
7,268,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01863:Odad2
|
APN |
18 |
7,222,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Odad2
|
APN |
18 |
7,127,291 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02013:Odad2
|
APN |
18 |
7,265,157 (GRCm39) |
splice site |
probably benign |
|
|
IGL02142:Odad2
|
APN |
18 |
7,214,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Odad2
|
APN |
18 |
7,285,719 (GRCm39) |
missense |
probably benign |
|
|
IGL02439:Odad2
|
APN |
18 |
7,268,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02452:Odad2
|
APN |
18 |
7,129,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Odad2
|
APN |
18 |
7,214,727 (GRCm39) |
splice site |
probably benign |
|
|
IGL03344:Odad2
|
APN |
18 |
7,129,434 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Odad2
|
UTSW |
18 |
7,129,593 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Odad2
|
UTSW |
18 |
7,129,593 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Odad2
|
UTSW |
18 |
7,211,516 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0242:Odad2
|
UTSW |
18 |
7,211,516 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0365:Odad2
|
UTSW |
18 |
7,217,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0377:Odad2
|
UTSW |
18 |
7,127,415 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0466:Odad2
|
UTSW |
18 |
7,286,758 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0521:Odad2
|
UTSW |
18 |
7,222,676 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0841:Odad2
|
UTSW |
18 |
7,268,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Odad2
|
UTSW |
18 |
7,268,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Odad2
|
UTSW |
18 |
7,268,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1435:Odad2
|
UTSW |
18 |
7,222,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1487:Odad2
|
UTSW |
18 |
7,273,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1634:Odad2
|
UTSW |
18 |
7,286,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1677:Odad2
|
UTSW |
18 |
7,222,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1778:Odad2
|
UTSW |
18 |
7,127,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Odad2
|
UTSW |
18 |
7,286,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1809:Odad2
|
UTSW |
18 |
7,211,630 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1842:Odad2
|
UTSW |
18 |
7,223,551 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2144:Odad2
|
UTSW |
18 |
7,127,229 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2206:Odad2
|
UTSW |
18 |
7,223,676 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2273:Odad2
|
UTSW |
18 |
7,223,676 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2275:Odad2
|
UTSW |
18 |
7,223,676 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2918:Odad2
|
UTSW |
18 |
7,222,625 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3421:Odad2
|
UTSW |
18 |
7,223,523 (GRCm39) |
splice site |
probably benign |
|
|
R3422:Odad2
|
UTSW |
18 |
7,223,523 (GRCm39) |
splice site |
probably benign |
|
|
R4165:Odad2
|
UTSW |
18 |
7,217,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Odad2
|
UTSW |
18 |
7,181,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4660:Odad2
|
UTSW |
18 |
7,211,609 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4745:Odad2
|
UTSW |
18 |
7,286,763 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4812:Odad2
|
UTSW |
18 |
7,288,634 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4831:Odad2
|
UTSW |
18 |
7,222,564 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4923:Odad2
|
UTSW |
18 |
7,181,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4995:Odad2
|
UTSW |
18 |
7,223,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Odad2
|
UTSW |
18 |
7,088,555 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5335:Odad2
|
UTSW |
18 |
7,294,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5434:Odad2
|
UTSW |
18 |
7,222,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5552:Odad2
|
UTSW |
18 |
7,285,360 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5719:Odad2
|
UTSW |
18 |
7,211,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5736:Odad2
|
UTSW |
18 |
7,268,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5792:Odad2
|
UTSW |
18 |
7,217,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5848:Odad2
|
UTSW |
18 |
7,268,507 (GRCm39) |
splice site |
probably null |
|
|
R5957:Odad2
|
UTSW |
18 |
7,285,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6001:Odad2
|
UTSW |
18 |
7,286,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6309:Odad2
|
UTSW |
18 |
7,214,617 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6559:Odad2
|
UTSW |
18 |
7,223,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6574:Odad2
|
UTSW |
18 |
7,129,394 (GRCm39) |
splice site |
probably null |
|
|
R6581:Odad2
|
UTSW |
18 |
7,129,560 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6736:Odad2
|
UTSW |
18 |
7,223,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6842:Odad2
|
UTSW |
18 |
7,268,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6968:Odad2
|
UTSW |
18 |
7,273,155 (GRCm39) |
splice site |
probably null |
|
|
R6974:Odad2
|
UTSW |
18 |
7,294,479 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7024:Odad2
|
UTSW |
18 |
7,211,593 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7299:Odad2
|
UTSW |
18 |
7,222,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Odad2
|
UTSW |
18 |
7,211,593 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7737:Odad2
|
UTSW |
18 |
7,217,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Odad2
|
UTSW |
18 |
7,217,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8025:Odad2
|
UTSW |
18 |
7,127,224 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8151:Odad2
|
UTSW |
18 |
7,127,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Odad2
|
UTSW |
18 |
7,268,464 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8998:Odad2
|
UTSW |
18 |
7,211,574 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8999:Odad2
|
UTSW |
18 |
7,211,574 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9006:Odad2
|
UTSW |
18 |
7,294,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9091:Odad2
|
UTSW |
18 |
7,217,846 (GRCm39) |
nonsense |
probably null |
|
|
R9106:Odad2
|
UTSW |
18 |
7,294,527 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9153:Odad2
|
UTSW |
18 |
7,286,733 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9229:Odad2
|
UTSW |
18 |
7,127,324 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9254:Odad2
|
UTSW |
18 |
7,265,089 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9270:Odad2
|
UTSW |
18 |
7,217,846 (GRCm39) |
nonsense |
probably null |
|
|
R9379:Odad2
|
UTSW |
18 |
7,265,089 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9626:Odad2
|
UTSW |
18 |
7,211,422 (GRCm39) |
nonsense |
probably null |
|
|
R9708:Odad2
|
UTSW |
18 |
7,288,633 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Odad2
|
UTSW |
18 |
7,266,919 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Odad2
|
UTSW |
18 |
7,216,973 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Odad2
|
UTSW |
18 |
7,129,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTCTGGATCATCAGCAATGAC -3'
(R):5'- GTGCTTTTGGACCCCATTTAATGCC -3'
Sequencing Primer
(F):5'- TCATCAGCAATGACAGTGAACG -3'
(R):5'- CTGTTTAAAGGAAGCCCACTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation