Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02359:Dpcd'

290401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpcd

Ensembl Gene

ENSMUSG00000041035

Gene Name

deleted in primary ciliary dyskinesia

Synonyms

Ndac, Gm17018, 5330431N19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

IGL02359

Quality Score

Status

Chromosome

Chromosomal Location

45549018-45566728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45565493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 156 (A156S)

Ref Sequence

ENSEMBL: ENSMUSP00000045683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046869] [ENSMUST00000047057] [ENSMUST00000160003] [ENSMUST00000160018] [ENSMUST00000160438] [ENSMUST00000162879] [ENSMUST00000162433]

AlphaFold

Q8BPA8

Predicted Effect

probably benign
Transcript: ENSMUST00000046869

SMART Domains

Protein: ENSMUSP00000036505
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
FBOX	29	69	1.47e-2	SMART
WD40	150	187	3.45e-1	SMART
WD40	189	226	2.24e-2	SMART
WD40	232	274	8.91e-1	SMART
WD40	277	318	5.52e0	SMART
WD40	323	363	1.67e-1	SMART
Blast:WD40	366	406	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000047057
AA Change: A156S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035
AA Change: A156S

Domain	Start	End	E-Value	Type
Pfam:DPCD	6	195	4.5e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160003

SMART Domains

Protein: ENSMUSP00000124604
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	2e-20	BLAST
SCOP:d1fwxa2	8	62	4e-7	SMART
Blast:WD40	39	79	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160018

SMART Domains

Protein: ENSMUSP00000125641
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
Blast:WD40	1	21	8e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160438

SMART Domains

Protein: ENSMUSP00000125136
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
WD40	52	93	5.52e0	SMART
WD40	98	138	1.67e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161373

Predicted Effect

probably benign
Transcript: ENSMUST00000162879

SMART Domains

Protein: ENSMUSP00000124675
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
Blast:WD40	1	21	4e-7	BLAST
WD40	26	66	1.67e-1	SMART
Blast:WD40	69	102	8e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162433

SMART Domains

Protein: ENSMUSP00000124998
Gene: ENSMUSG00000040913

Domain	Start	End	E-Value	Type
Blast:WD40	1	21	5e-7	BLAST
WD40	26	66	1.67e-1	SMART
Blast:WD40	69	109	3e-12	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,941,829 (GRCm39)		probably null	Het
Abca5	T	A	11: 110,166,156 (GRCm39)	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,179,562 (GRCm39)		probably null	Het
Aldh2	T	C	5: 121,713,960 (GRCm39)	E128G	probably null	Het
Ano3	A	T	2: 110,715,288 (GRCm39)	L50*	probably null	Het
Atp13a3	A	G	16: 30,169,902 (GRCm39)	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,019,631 (GRCm39)	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,020,990 (GRCm39)		probably benign	Het
Ccdc150	G	A	1: 54,311,680 (GRCm39)	R222H	probably benign	Het
Cep55	T	A	19: 38,058,316 (GRCm39)	I303N	probably damaging	Het
Cmip	A	T	8: 118,137,994 (GRCm39)		probably benign	Het
Cyp21a1	A	G	17: 35,023,196 (GRCm39)	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,278,121 (GRCm39)	W10R	possibly damaging	Het
Dock10	A	G	1: 80,483,378 (GRCm39)	Y2076H	probably damaging	Het
Egflam	T	C	15: 7,263,706 (GRCm39)	N748S	probably benign	Het
Fam227b	A	G	2: 125,988,174 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,540,073 (GRCm39)	I654N	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Hrh1	C	A	6: 114,457,404 (GRCm39)	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,675,474 (GRCm39)	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,009,267 (GRCm39)	F734L	probably benign	Het
Kif5a	T	C	10: 127,079,370 (GRCm39)	Y276C	probably damaging	Het
Lax1	A	T	1: 133,608,208 (GRCm39)	S178T	possibly damaging	Het
Marchf6	C	T	15: 31,509,905 (GRCm39)	C28Y	probably damaging	Het
Mylk3	T	C	8: 86,081,931 (GRCm39)	T356A	probably benign	Het
Or2l13	T	C	16: 19,305,927 (GRCm39)	L113P	probably damaging	Het
Pate7	A	T	9: 35,689,180 (GRCm39)	M1K	probably null	Het
Pgap2	G	T	7: 101,885,346 (GRCm39)	V71F	probably damaging	Het
Prob1	T	G	18: 35,785,893 (GRCm39)	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,475,691 (GRCm39)	D430E	probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,803 (GRCm39)		probably benign	Het
Sgsm2	G	T	11: 74,782,900 (GRCm39)		probably benign	Het
Slc38a9	A	G	13: 112,826,720 (GRCm39)	I153V	probably benign	Het
Slco1b2	T	A	6: 141,631,251 (GRCm39)	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,362,727 (GRCm39)	S145P	probably benign	Het
Sv2b	T	C	7: 74,786,197 (GRCm39)	T408A	probably benign	Het
Usp24	T	C	4: 106,261,122 (GRCm39)	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,939,043 (GRCm39)	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,504,084 (GRCm39)	V155M	probably damaging	Het
Wsb1	G	A	11: 79,141,838 (GRCm39)	L60F	probably damaging	Het
Wwp2	C	T	8: 108,267,278 (GRCm39)	R297*	probably null	Het
Xkr6	T	C	14: 64,057,156 (GRCm39)	Y356H	unknown	Het

Other mutations in Dpcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Dpcd	APN	19	45,565,469 (GRCm39)	missense	probably benign
IGL02352:Dpcd	APN	19	45,565,493 (GRCm39)	missense	probably benign	0.01
R0308:Dpcd	UTSW	19	45,565,445 (GRCm39)	missense	probably damaging	0.99
R6195:Dpcd	UTSW	19	45,565,458 (GRCm39)	missense	probably damaging	1.00
R7254:Dpcd	UTSW	19	45,565,473 (GRCm39)	missense	probably benign	0.03
R7348:Dpcd	UTSW	19	45,560,905 (GRCm39)	missense	probably damaging	1.00
R9299:Dpcd	UTSW	19	45,566,009 (GRCm39)	missense	probably damaging	1.00
R9612:Dpcd	UTSW	19	45,560,422 (GRCm39)	nonsense	probably null
R9745:Dpcd	UTSW	19	45,560,881 (GRCm39)	missense	probably benign	0.45

Posted On

2015-04-16