Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Odad3'

460099

Institutional Source

Beutler Lab

Gene Symbol

Odad3

Ensembl Gene

ENSMUSG00000039632

Gene Name

outer dynein arm docking complex subunit 3

Synonyms

Ccdc151, C330001K17Rik, b2b1885Clo

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21901167-21913930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21913718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000110993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003493] [ENSMUST00000044926] [ENSMUST00000115331] [ENSMUST00000115336] [ENSMUST00000215795] [ENSMUST00000216344]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003493

SMART Domains

Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	3.48e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	214	236	5.5e-5	PFAM
Pfam:EF-hand_5	239	257	4.4e-4	PFAM
low complexity region	290	341	N/A	INTRINSIC
Pfam:PRKCSH_1	366	512	4.3e-23	PFAM
Pfam:PRKCSH	406	464	1.1e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044926
AA Change: E18G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: E18G

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
coiled coil region	378	420	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	550	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115331

SMART Domains

Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	1.7e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	215	236	3.2e-5	PFAM
Pfam:EF-hand_5	239	257	1.2e-3	PFAM
low complexity region	290	352	N/A	INTRINSIC
Pfam:PRKCSH_1	373	519	4.4e-23	PFAM
Pfam:PRKCSH	413	471	4e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115336
AA Change: E18G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: E18G

Domain	Start	End	E-Value	Type
coiled coil region	88	286	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
coiled coil region	379	421	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	551	566	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214565

Predicted Effect

probably benign
Transcript: ENSMUST00000215795

Predicted Effect

probably benign
Transcript: ENSMUST00000216344

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	Het

Other mutations in Odad3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Odad3	APN	9	21,906,675 (GRCm39)	critical splice acceptor site	probably null
IGL01922:Odad3	APN	9	21,904,826 (GRCm39)	unclassified	probably benign
IGL02223:Odad3	APN	9	21,904,908 (GRCm39)	missense	probably damaging	1.00
IGL03161:Odad3	APN	9	21,913,611 (GRCm39)	missense	probably benign	0.02
IGL03269:Odad3	APN	9	21,909,339 (GRCm39)	critical splice donor site	probably null
R0118:Odad3	UTSW	9	21,906,353 (GRCm39)	missense	probably benign	0.03
R0129:Odad3	UTSW	9	21,904,848 (GRCm39)	missense	probably damaging	0.98
R0279:Odad3	UTSW	9	21,901,543 (GRCm39)	unclassified	probably benign
R0390:Odad3	UTSW	9	21,903,004 (GRCm39)	missense	probably benign	0.00
R1349:Odad3	UTSW	9	21,904,916 (GRCm39)	missense	probably damaging	1.00
R1372:Odad3	UTSW	9	21,904,916 (GRCm39)	missense	probably damaging	1.00
R1891:Odad3	UTSW	9	21,906,677 (GRCm39)	splice site	probably null
R2044:Odad3	UTSW	9	21,903,154 (GRCm39)	missense	possibly damaging	0.95
R5116:Odad3	UTSW	9	21,901,424 (GRCm39)	makesense	probably null
R5147:Odad3	UTSW	9	21,906,158 (GRCm39)	missense	probably benign	0.21
R6182:Odad3	UTSW	9	21,901,698 (GRCm39)	missense	probably damaging	1.00
R7253:Odad3	UTSW	9	21,913,767 (GRCm39)	missense	probably damaging	1.00
R7498:Odad3	UTSW	9	21,913,553 (GRCm39)	missense	probably damaging	1.00
R7742:Odad3	UTSW	9	21,904,193 (GRCm39)	missense	possibly damaging	0.82
R8331:Odad3	UTSW	9	21,903,007 (GRCm39)	missense	probably damaging	1.00
R8976:Odad3	UTSW	9	21,903,334 (GRCm39)	unclassified	probably benign
R9319:Odad3	UTSW	9	21,906,203 (GRCm39)	missense	probably damaging	1.00
R9324:Odad3	UTSW	9	21,903,207 (GRCm39)	missense	probably damaging	1.00
R9422:Odad3	UTSW	9	21,913,628 (GRCm39)	missense	possibly damaging	0.55
R9614:Odad3	UTSW	9	21,904,310 (GRCm39)	missense	probably benign	0.02
Z1176:Odad3	UTSW	9	21,901,720 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TCTGCAGCCATACTTACCTAAC -3'
(R):5'- ACTTAGCAACCGGGAGATGC -3'

Sequencing Primer
(F):5'- TGCAGCCATACTTACCTAACAGTTGG -3'
(R):5'- ATGCTAAGAGGCCCGCAG -3'

Posted On

2017-02-28