Mutagenetix > Incidental Mutation

Incidental Mutation 'R5552:Odad2'

435197

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

043109-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R5552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7088209-7297936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7285360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

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

AlphaFold

B2RY50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081275
AA Change: V267A

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: V267A

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,530 (GRCm39)	Y403H	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgap19	T	C	19: 41,772,819 (GRCm39)	I291M	probably benign	Het
Blzf1	A	T	1: 164,130,058 (GRCm39)	I91N	probably damaging	Het
Cdh2	T	C	18: 16,773,520 (GRCm39)	T270A	possibly damaging	Het
Chd5	T	A	4: 152,470,272 (GRCm39)	M1906K	possibly damaging	Het
Cpsf1	T	C	15: 76,483,846 (GRCm39)	D799G	probably benign	Het
Csnk1g3	T	C	18: 54,065,355 (GRCm39)	F313L	probably benign	Het
Cyfip1	T	C	7: 55,521,855 (GRCm39)	V53A	possibly damaging	Het
Dcst1	T	C	3: 89,272,373 (GRCm39)	D30G	probably benign	Het
Dlgap2	G	T	8: 14,881,342 (GRCm39)	G805*	probably null	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Epha8	T	C	4: 136,659,210 (GRCm39)	N843S	probably damaging	Het
Evi5	A	T	5: 107,966,855 (GRCm39)	V222E	probably damaging	Het
Gli1	C	A	10: 127,166,131 (GRCm39)	A1041S	probably benign	Het
Glipr1l1	A	T	10: 111,898,243 (GRCm39)	Q116L	probably benign	Het
H3c4	A	G	13: 23,760,295 (GRCm39)	D107G	probably damaging	Het
Hectd4	T	A	5: 121,480,914 (GRCm39)	L2985Q	possibly damaging	Het
Hk2	G	T	6: 82,707,804 (GRCm39)	R694S	possibly damaging	Het
Htt	A	G	5: 34,979,118 (GRCm39)	M834V	probably benign	Het
Itpr2	A	G	6: 146,195,578 (GRCm39)	Y1600H	probably benign	Het
Med1	A	T	11: 98,057,157 (GRCm39)	Y340*	probably null	Het
Mov10l1	T	A	15: 88,938,569 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,284,768 (GRCm39)	F586L	probably benign	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Nod1	A	G	6: 54,921,616 (GRCm39)	F234S	probably damaging	Het
Or10ak9	T	A	4: 118,726,665 (GRCm39)	I228N	probably damaging	Het
Or6c69c	T	C	10: 129,911,014 (GRCm39)	V245A	probably damaging	Het
Pde4a	T	C	9: 21,112,682 (GRCm39)	V343A	probably damaging	Het
Pmfbp1	T	A	8: 110,258,383 (GRCm39)	L649Q	probably damaging	Het
Polq	A	G	16: 36,914,872 (GRCm39)	I2511V	possibly damaging	Het
Pramel51	T	A	12: 88,145,135 (GRCm39)	T64S	probably benign	Het
Serac1	T	A	17: 6,106,967 (GRCm39)	R361*	probably null	Het
Serpina3g	T	C	12: 104,206,595 (GRCm39)	V132A	probably damaging	Het
Thada	A	C	17: 84,736,558 (GRCm39)	S908A	probably benign	Het
Zfp280b	C	T	10: 75,875,497 (GRCm39)	Q459*	probably null	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
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
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'- CAAAAGCTGATTAAGATGGTTTGGG -3'
(R):5'- TCTCGGGCTCATTTGACATC -3'

Sequencing Primer
(F):5'- GATTTTCTCAGGAGGTGCATAGAG -3'
(R):5'- CGGGCTCATTTGACATCATTTATATC -3'

Posted On

2016-10-24