Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01645:Odad2'

102624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Odad2

Ensembl Gene

ENSMUSG00000061802

Gene Name

outer dynein arm docking complex subunit 2

Synonyms

b2b227.1Clo, Armc4, b2b643Clo, 4930463I21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

IGL01645

Quality Score

Status

Chromosome

Chromosomal Location

7088209-7297936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7268491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 343 (S343G)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081275]

AlphaFold

B2RY50

Predicted Effect

probably benign
Transcript: ENSMUST00000081275
AA Change: S343G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: S343G

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,764,477 (GRCm39)	C1156Y	possibly damaging	Het
Armh4	T	C	14: 50,011,011 (GRCm39)	E232G	probably damaging	Het
Atp8b1	G	A	18: 64,679,184 (GRCm39)	H766Y	probably benign	Het
Cacna2d1	C	A	5: 16,217,389 (GRCm39)		probably null	Het
Card11	T	A	5: 140,863,778 (GRCm39)	T987S	probably benign	Het
Dennd2b	T	A	7: 109,126,841 (GRCm39)	K540*	probably null	Het
Dmxl2	A	T	9: 54,286,017 (GRCm39)	Y2723N	possibly damaging	Het
Dnah11	T	A	12: 118,150,733 (GRCm39)	I342F	possibly damaging	Het
Dnajc10	A	G	2: 80,170,871 (GRCm39)	H454R	possibly damaging	Het
Dpy19l3	T	C	7: 35,394,763 (GRCm39)	T592A	probably benign	Het
Eea1	T	A	10: 95,825,451 (GRCm39)	S49T	probably damaging	Het
Esd	T	A	14: 74,987,159 (GRCm39)	N294K	probably benign	Het
Fmo3	A	G	1: 162,791,575 (GRCm39)	V234A	possibly damaging	Het
Folh1	A	G	7: 86,391,435 (GRCm39)	F420L	probably damaging	Het
Gabra1	T	C	11: 42,026,389 (GRCm39)	N301S	probably damaging	Het
Gm5422	A	T	10: 31,126,069 (GRCm39)		noncoding transcript	Het
Gorab	A	T	1: 163,214,000 (GRCm39)	L310Q	possibly damaging	Het
Gsdme	A	G	6: 50,228,316 (GRCm39)	Y51H	probably damaging	Het
Hrob	T	C	11: 102,146,012 (GRCm39)	L96P	probably damaging	Het
Itpr1	T	C	6: 108,450,560 (GRCm39)	I1964T	possibly damaging	Het
Lmbr1	A	G	5: 29,440,053 (GRCm39)	L410P	probably damaging	Het
Lrrc37a	T	C	11: 103,395,090 (GRCm39)	R112G	probably benign	Het
Mrgpra6	T	C	7: 46,835,681 (GRCm39)	T247A	probably benign	Het
Mroh4	A	G	15: 74,483,207 (GRCm39)		probably benign	Het
Mycbpap	T	C	11: 94,394,293 (GRCm39)		probably null	Het
Myoz2	T	A	3: 122,827,881 (GRCm39)	K12N	probably damaging	Het
Or1d2	T	C	11: 74,256,359 (GRCm39)	I288T	possibly damaging	Het
P3h1	T	G	4: 119,093,980 (GRCm39)	F212V	probably damaging	Het
Pcnx2	T	C	8: 126,614,656 (GRCm39)	D265G	probably damaging	Het
Pkd1l3	C	T	8: 110,361,934 (GRCm39)	T992I	possibly damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Pth2	T	A	7: 44,830,764 (GRCm39)	L29Q	possibly damaging	Het
Rab1b	A	C	19: 5,154,962 (GRCm39)		probably benign	Het
Rasa2	A	T	9: 96,464,834 (GRCm39)	C190*	probably null	Het
Scn9a	T	C	2: 66,317,986 (GRCm39)	K1501E	possibly damaging	Het
Selenoi	A	G	5: 30,462,821 (GRCm39)		probably benign	Het
Slc11a2	T	C	15: 100,286,999 (GRCm39)	N558S	probably benign	Het
Sox10	T	C	15: 79,040,539 (GRCm39)	I173V	probably benign	Het
Sra1	A	C	18: 36,804,526 (GRCm39)	F476C	probably damaging	Het
Tmem119	T	A	5: 113,933,409 (GRCm39)	K131*	probably null	Het
Trim12c	T	A	7: 103,994,261 (GRCm39)	K198*	probably null	Het
Ttn	A	G	2: 76,681,904 (GRCm39)		probably benign	Het
Unc119b	C	T	5: 115,265,371 (GRCm39)	V154I	probably benign	Het
Usp47	T	A	7: 111,654,069 (GRCm39)	S108R	probably damaging	Het
Vmn1r15	T	A	6: 57,235,547 (GRCm39)	C138*	probably null	Het
Vmn1r191	T	C	13: 22,363,614 (GRCm39)	I47V	probably benign	Het
Wnt3	C	T	11: 103,703,204 (GRCm39)	A229V	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
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
R0517:Odad2	UTSW	18	7,223,621 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21