Mutagenetix > Incidental Mutation

Incidental Mutation 'R9422:Odad3'

712387

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

Accession Numbers

Essential gene?

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

Stock #

R9422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21901167-21913930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21913628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 48 (H48L)

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

SMART Domains

Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: H48L

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: H48L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: H48L

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

probably benign
Transcript: ENSMUST00000215795

Predicted Effect

probably benign
Transcript: ENSMUST00000216344

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (55/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,667,153 (GRCm39)	V209I		Het
Adamts18	T	A	8: 114,501,910 (GRCm39)	Y317F	probably damaging	Het
Adgrg6	C	T	10: 14,302,740 (GRCm39)	R863H	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ank2	C	A	3: 126,890,505 (GRCm39)	K55N	unknown	Het
B3galnt2	A	G	13: 14,150,136 (GRCm39)	T160A	probably benign	Het
Becn1	C	A	11: 101,192,832 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,444 (GRCm39)	N777S	possibly damaging	Het
Cd302	T	C	2: 60,082,697 (GRCm39)	Y209C	probably damaging	Het
Cfap69	A	G	5: 5,699,851 (GRCm39)	V63A	probably benign	Het
Clasp1	T	A	1: 118,390,257 (GRCm39)	I147N	possibly damaging	Het
Cmtm3	A	T	8: 105,067,358 (GRCm39)		probably benign	Het
Cmtm3	G	T	8: 105,067,359 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,293,364 (GRCm39)		probably null	Het
Csn3	A	G	5: 88,077,872 (GRCm39)	N126S	probably benign	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dctn1	T	A	6: 83,170,691 (GRCm39)	H729Q	possibly damaging	Het
Dop1a	C	T	9: 86,425,093 (GRCm39)	H2138Y	probably damaging	Het
Fbxo2	T	C	4: 148,248,616 (GRCm39)	L36P	unknown	Het
Gzmg	T	A	14: 56,395,812 (GRCm39)	Y49F	probably benign	Het
H2bc3	A	G	13: 23,930,940 (GRCm39)	I55V	possibly damaging	Het
Hivep1	A	G	13: 42,313,213 (GRCm39)	T1818A	probably benign	Het
Ipmk	T	C	10: 71,212,550 (GRCm39)	S171P	possibly damaging	Het
Milr1	T	A	11: 106,657,805 (GRCm39)	Y239N	probably damaging	Het
Muc16	T	C	9: 18,553,102 (GRCm39)	N4397S	probably benign	Het
Nell1	C	A	7: 49,712,387 (GRCm39)	S69*	probably null	Het
Nme8	A	G	13: 19,859,918 (GRCm39)	V234A	probably benign	Het
Notch2	A	G	3: 98,054,668 (GRCm39)	S2444G	probably damaging	Het
Or5p75-ps1	A	T	7: 108,108,155 (GRCm39)	K297N	unknown	Het
Or7g35	T	A	9: 19,495,968 (GRCm39)	I45K	probably damaging	Het
Pex5l	T	C	3: 33,136,401 (GRCm39)		probably benign	Het
Pgm3	A	T	9: 86,443,938 (GRCm39)	L322H	probably damaging	Het
Plxna2	T	A	1: 194,326,730 (GRCm39)	F221L	probably damaging	Het
Pramel22	T	A	4: 143,382,982 (GRCm39)	K79M	probably damaging	Het
Prkaa2	A	G	4: 104,909,195 (GRCm39)	I83T	probably benign	Het
R3hdml	A	G	2: 163,334,526 (GRCm39)	T39A	probably benign	Het
Ralgds	A	G	2: 28,435,184 (GRCm39)	M447V	probably benign	Het
Rgs2	T	C	1: 143,878,783 (GRCm39)	D40G	probably damaging	Het
Robo3	T	C	9: 37,329,789 (GRCm39)	M1176V	probably benign	Het
Rpap1	G	A	2: 119,613,519 (GRCm39)		probably benign	Het
Skic3	A	T	13: 76,278,447 (GRCm39)		probably benign	Het
Slc26a8	T	C	17: 28,857,560 (GRCm39)	D861G	possibly damaging	Het
Slc4a8	A	T	15: 100,698,469 (GRCm39)	I705F	probably benign	Het
Slco3a1	C	T	7: 73,946,996 (GRCm39)	V576I	probably damaging	Het
Socs7	A	G	11: 97,253,973 (GRCm39)	D169G	possibly damaging	Het
Tanc1	T	C	2: 59,637,933 (GRCm39)	V878A	probably benign	Het
Thop1	C	T	10: 80,916,001 (GRCm39)	R395W	probably damaging	Het
Tpp2	T	A	1: 44,017,897 (GRCm39)	H765Q	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r233	T	A	17: 21,214,069 (GRCm39)	M294L	possibly damaging	Het
Vmn1r27	T	C	6: 58,192,867 (GRCm39)	T46A	probably benign	Het
Vmn2r28	A	G	7: 5,483,747 (GRCm39)	S818P	probably damaging	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Zfhx3	C	T	8: 109,430,850 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,321 (GRCm39)	M330V	probably benign	Het
Zhx1	T	C	15: 57,916,071 (GRCm39)	Y725C	probably damaging	Het
Zhx3	C	T	2: 160,624,020 (GRCm39)	S49N	probably benign	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
R5929:Odad3	UTSW	9	21,913,718 (GRCm39)	missense	possibly damaging	0.50
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
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'- TAGACTCGTGCTGGAGAAACAC -3'
(R):5'- AGGATCCTGGATTATAGAGGCC -3'

Sequencing Primer
(F):5'- CTCGTGCTGGAGAAACACATAGC -3'
(R):5'- CCTGGATTATAGAGGCCAACTTG -3'

Posted On

2022-05-16