Mutagenetix > Incidental Mutation

Incidental Mutation 'R8999:Odad2'

684883

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

068830-MU

Accession Numbers

Essential gene?

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

Stock #

R8999 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7088209-7297936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7211574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 767 (V767L)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

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

AlphaFold

B2RY50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081275
AA Change: V767L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: V767L

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

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,083 (GRCm39)	E245G	possibly damaging	Het
Cd6	A	T	19: 10,776,642 (GRCm39)	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,165 (GRCm39)	D98G	probably benign	Het
Cfap52	T	C	11: 67,818,137 (GRCm39)	K525E	probably damaging	Het
Ddx10	T	C	9: 53,140,534 (GRCm39)	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,018,235 (GRCm39)	T1428A	probably benign	Het
Dsg3	T	C	18: 20,666,684 (GRCm39)	L631P	probably damaging	Het
Dusp19	T	A	2: 80,461,271 (GRCm39)	C187S	probably benign	Het
Efcab3	A	T	11: 104,640,477 (GRCm39)	M1072L	probably benign	Het
Fap	T	C	2: 62,367,368 (GRCm39)	H338R	probably benign	Het
Fxyd2	T	C	9: 45,314,295 (GRCm39)		probably benign	Het
Gabrg1	T	A	5: 70,973,378 (GRCm39)	I59F	probably benign	Het
Glb1l3	A	T	9: 26,764,914 (GRCm39)		probably null	Het
Gpr27	T	C	6: 99,669,776 (GRCm39)	I46T	possibly damaging	Het
Igkv8-26	C	A	6: 70,170,514 (GRCm39)	A35E	probably benign	Het
Ikzf1	A	G	11: 11,635,013 (GRCm39)		probably benign	Het
Krt18	A	C	15: 101,939,874 (GRCm39)	E357D	probably damaging	Het
Lbr	C	T	1: 181,646,512 (GRCm39)	G470E	probably damaging	Het
Map2	A	T	1: 66,452,473 (GRCm39)	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,840,817 (GRCm39)	V282A		Het
Men1	G	A	19: 6,389,960 (GRCm39)	V538I	probably benign	Het
Mfn1	T	A	3: 32,623,683 (GRCm39)	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,202,882 (GRCm39)	G1838*	probably null	Het
Msantd5f9	G	C	4: 73,837,420 (GRCm39)	N99K	probably damaging	Het
Mypn	A	T	10: 62,998,050 (GRCm39)	L420*	probably null	Het
Nkx6-1	T	C	5: 101,812,082 (GRCm39)	M7V	unknown	Het
Notum	G	A	11: 120,545,207 (GRCm39)	H451Y	probably benign	Het
Or11i1	A	T	3: 106,728,999 (GRCm39)	I292N	probably damaging	Het
Or2b28	A	G	13: 21,531,988 (GRCm39)	K297E	probably damaging	Het
Or6c3	A	G	10: 129,309,386 (GRCm39)	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,400,783 (GRCm39)	I287S	probably benign	Het
Pcdha2	C	T	18: 37,073,428 (GRCm39)	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,510,199 (GRCm39)	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,870,993 (GRCm39)	A106T	probably benign	Het
Prkch	T	C	12: 73,742,973 (GRCm39)	V209A	probably damaging	Het
Ptprc	A	G	1: 138,028,930 (GRCm39)	C284R	probably damaging	Het
Ptprf	A	G	4: 118,083,671 (GRCm39)	V804A	probably benign	Het
Rbp3	C	T	14: 33,684,360 (GRCm39)	R1130*	probably null	Het
Serpina6	C	G	12: 103,617,988 (GRCm39)	R275P	probably damaging	Het
Six3	T	A	17: 85,931,164 (GRCm39)	H273Q	probably benign	Het
Stk35	C	A	2: 129,652,509 (GRCm39)	P337T	probably damaging	Het
Supt5	A	G	7: 28,037,848 (GRCm39)	S2P	unknown	Het
Tnik	A	G	3: 28,719,920 (GRCm39)	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,838,960 (GRCm39)	T621A	unknown	Het
Tyrp1	T	C	4: 80,763,094 (GRCm39)	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,060,307 (GRCm39)	S426A	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
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
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'- TCTGGTTCTACTGCGCATG -3'
(R):5'- TGAAGGTTAAATGGGTCTACTCAG -3'

Sequencing Primer
(F):5'- ATGCGCCCACAGCTTTTG -3'
(R):5'- TTATGTGGATCAAATGAGCACAG -3'

Posted On

2021-10-11