Mutagenetix > Incidental Mutation

Incidental Mutation 'R7878:Odad2'

608603

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

045930-MU

Accession Numbers

Essential gene?

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

Stock #

R7878 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7088209-7297936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7217801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 638 (H638N)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

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

AlphaFold

B2RY50

Predicted Effect

probably benign
Transcript: ENSMUST00000081275
AA Change: H638N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: H638N

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: 99.7%
20x: 99.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,857,330 (GRCm39)		probably null	Het
Ak7	T	A	12: 105,733,008 (GRCm39)	I584N	probably damaging	Het
Akip1	A	T	7: 109,306,609 (GRCm39)	Y102F	probably damaging	Het
Alg9	T	C	9: 50,754,083 (GRCm39)	Y588H	probably benign	Het
Arid1a	A	T	4: 133,414,582 (GRCm39)	N831K	unknown	Het
Bcl2l11	T	A	2: 127,970,608 (GRCm39)	L19*	probably null	Het
Btn1a1	T	C	13: 23,643,214 (GRCm39)	T412A	possibly damaging	Het
Ccbe1	T	C	18: 66,209,462 (GRCm39)	N193D	possibly damaging	Het
Ccdc168	T	C	1: 44,095,174 (GRCm39)	S1975G	probably benign	Het
Cd96	A	G	16: 45,938,139 (GRCm39)	S109P	probably damaging	Het
Cdh23	A	C	10: 60,149,979 (GRCm39)	I2622S	possibly damaging	Het
Cmya5	G	T	13: 93,226,265 (GRCm39)	T2941K	probably damaging	Het
Cntn1	T	C	15: 92,192,934 (GRCm39)	Y679H	probably damaging	Het
Cpsf1	A	G	15: 76,484,700 (GRCm39)	V619A	probably damaging	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Frem1	A	G	4: 82,938,917 (GRCm39)	V55A	probably benign	Het
Kif1b	A	T	4: 149,299,454 (GRCm39)	Y985N	probably damaging	Het
Lao1	A	G	4: 118,824,619 (GRCm39)	N234D	probably benign	Het
Lima1	C	T	15: 99,717,431 (GRCm39)	V192I	probably benign	Het
Lrp2	T	G	2: 69,338,153 (GRCm39)	D1209A	probably damaging	Het
Lrp2	C	A	2: 69,338,154 (GRCm39)	D1209Y	probably damaging	Het
Luzp1	A	G	4: 136,269,163 (GRCm39)	H462R	probably benign	Het
Mab21l1	A	T	3: 55,691,438 (GRCm39)	T342S	probably benign	Het
Mst1	T	C	9: 107,961,812 (GRCm39)	V657A	probably benign	Het
Mtmr11	A	G	3: 96,076,515 (GRCm39)	K490R	probably benign	Het
Myh3	A	G	11: 66,978,077 (GRCm39)	D383G	probably damaging	Het
Nectin1	G	A	9: 43,715,198 (GRCm39)	G478D	probably benign	Het
Nrip1	A	G	16: 76,091,554 (GRCm39)	M1T	probably null	Het
Odad1	A	G	7: 45,573,984 (GRCm39)	E17G	possibly damaging	Het
Or1j10	A	G	2: 36,267,145 (GRCm39)	D119G	probably damaging	Het
Or52z15	A	T	7: 103,332,471 (GRCm39)	H182L	probably damaging	Het
Pnisr	C	A	4: 21,874,370 (GRCm39)	F704L	unknown	Het
Ptpn21	T	A	12: 98,681,387 (GRCm39)	K82N	probably damaging	Het
Pyroxd2	T	G	19: 42,731,104 (GRCm39)		probably null	Het
Pzp	A	G	6: 128,489,274 (GRCm39)	S446P	possibly damaging	Het
Rbck1	T	A	2: 152,160,330 (GRCm39)	I450F	probably damaging	Het
Rnase4	T	A	14: 51,342,333 (GRCm39)	L19Q	probably damaging	Het
Rrp9	A	G	9: 106,358,516 (GRCm39)	E118G	probably damaging	Het
Sec22a	A	G	16: 35,168,005 (GRCm39)	S169P	probably benign	Het
Sema5b	G	A	16: 35,481,996 (GRCm39)	S957N	probably benign	Het
Serpina3g	A	T	12: 104,204,361 (GRCm39)		probably benign	Het
Skint2	A	T	4: 112,506,942 (GRCm39)	I322F	possibly damaging	Het
Spata31h1	G	A	10: 82,119,856 (GRCm39)	R4385W	probably benign	Het
Sspo	G	A	6: 48,469,460 (GRCm39)	C4471Y	probably damaging	Het
Stk16	T	A	1: 75,189,589 (GRCm39)	L167*	probably null	Het
Tanc2	G	A	11: 105,804,241 (GRCm39)	R245H		Het
Tdpoz1	G	A	3: 93,578,431 (GRCm39)	Q118*	probably null	Het
Tekt3	C	T	11: 62,961,277 (GRCm39)	R149*	probably null	Het
Tenm4	A	G	7: 96,501,564 (GRCm39)	E1256G	probably damaging	Het
Tie1	G	A	4: 118,335,621 (GRCm39)	R791C	probably damaging	Het
Tpr	T	A	1: 150,299,411 (GRCm39)	S1204T	possibly damaging	Het
Trim28	G	T	7: 12,758,289 (GRCm39)		probably benign	Het
Ucp1	A	G	8: 84,024,521 (GRCm39)	N282S	probably benign	Het
Unc80	T	A	1: 66,640,300 (GRCm39)	D1402E	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Zfyve28	T	A	5: 34,356,999 (GRCm39)	K733M	probably 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
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
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'- TATTAAAGCAGGCCGGCAGG -3'
(R):5'- TGTGGACAGAATTCAACAGAGC -3'

Sequencing Primer
(F):5'- AGACTCTGGCTTAATTGTGCACAC -3'
(R):5'- GCCAACTCAACCAAGCCTGTATG -3'

Posted On

2019-12-20