Mutagenetix > Incidental Mutation

Incidental Mutation 'R6842:Odad2'

533923

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

044948-MU

Accession Numbers

Essential gene?

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

Stock #

R6842 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7088209-7297936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7268401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 373 (D373N)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

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

AlphaFold

B2RY50

Predicted Effect

probably benign
Transcript: ENSMUST00000081275
AA Change: D373N

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

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: D373N

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,432 (GRCm39)	N69S	probably benign	Het
Adgrl3	C	T	5: 81,888,927 (GRCm39)	A1042V	probably damaging	Het
Armh3	A	G	19: 45,807,416 (GRCm39)	V660A	probably benign	Het
C1s2	T	A	6: 124,604,461 (GRCm39)	H395L	probably benign	Het
Cacna1e	A	G	1: 154,358,863 (GRCm39)	I307T	probably damaging	Het
Cap2	T	C	13: 46,800,101 (GRCm39)	S381P	probably damaging	Het
Cbfa2t2	A	G	2: 154,365,965 (GRCm39)	T392A	probably benign	Het
Ccdc127	T	C	13: 74,505,088 (GRCm39)	I212T	probably damaging	Het
Cela3a	A	G	4: 137,132,979 (GRCm39)	V91A	probably benign	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Csmd2	T	C	4: 128,402,952 (GRCm39)	F2347L	possibly damaging	Het
Ddx19a	A	G	8: 111,705,257 (GRCm39)	V288A	possibly damaging	Het
Fbxl5	T	C	5: 43,930,928 (GRCm39)	E53G	probably damaging	Het
Fbxw26	A	T	9: 109,553,988 (GRCm39)	I217N	probably damaging	Het
Fgfr1op2	T	A	6: 146,491,536 (GRCm39)		probably null	Het
Ighv1-37	A	T	12: 114,860,275 (GRCm39)	I6N	probably damaging	Het
Klhdc10	T	C	6: 30,439,781 (GRCm39)	L128P	probably damaging	Het
Lypla1	C	T	1: 4,902,563 (GRCm39)	S24F	probably benign	Het
Mme	T	A	3: 63,269,465 (GRCm39)	D591E	probably damaging	Het
Mmp1b	T	A	9: 7,384,888 (GRCm39)	I254F	probably damaging	Het
Msr1	T	C	8: 40,085,866 (GRCm39)	M5V	probably benign	Het
Myh8	A	G	11: 67,175,481 (GRCm39)	D312G	probably damaging	Het
Nav2	T	C	7: 49,107,917 (GRCm39)	Y709H	possibly damaging	Het
Oas1g	T	C	5: 121,025,621 (GRCm39)	E2G	probably benign	Het
Ocm	T	A	5: 143,962,509 (GRCm39)	I6F	unknown	Het
Or13f5	T	C	4: 52,825,576 (GRCm39)	Y60H	probably damaging	Het
Or2ag12	T	C	7: 106,277,093 (GRCm39)	Y200C	probably damaging	Het
Or8a1b	T	C	9: 37,622,885 (GRCm39)	N230S	probably benign	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pax1	A	G	2: 147,215,640 (GRCm39)	D419G	probably benign	Het
Plbd1	T	A	6: 136,612,612 (GRCm39)	I194F	probably benign	Het
Prdx6	A	T	1: 161,074,940 (GRCm39)	C47S	probably damaging	Het
Sec24d	T	C	3: 123,136,868 (GRCm39)	S534P	probably benign	Het
Sgk3	T	C	1: 9,968,979 (GRCm39)	V452A	probably benign	Het
Sipa1l1	T	C	12: 82,467,320 (GRCm39)	V1177A	probably benign	Het
Tgfbr1	T	C	4: 47,383,757 (GRCm39)	C32R	probably damaging	Het
Trim66	T	C	7: 109,059,983 (GRCm39)	N801S	probably benign	Het
Utp6	C	T	11: 79,831,775 (GRCm39)	S504N	probably benign	Het
Wdsub1	A	C	2: 59,708,532 (GRCm39)	S114A	probably benign	Het
Wfikkn2	T	C	11: 94,128,866 (GRCm39)	E425G	probably damaging	Het
Zfp956	C	T	6: 47,940,763 (GRCm39)	T374I	possibly damaging	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
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
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'- AGTATTTTGCTCCCATCACAGC -3'
(R):5'- ATTAGGTTTACTGAGGAGCAACAG -3'

Sequencing Primer
(F):5'- AGCTGTCCAAGTGCAAGC -3'
(R):5'- GCAACAGAAGGATAATCAGATTTTTG -3'

Posted On

2018-09-12