Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Dpcd'

564169

Institutional Source

Beutler Lab

Gene Symbol

Dpcd

Ensembl Gene

ENSMUSG00000041035

Gene Name

deleted in primary ciliary dyskinesia

Synonyms

Ndac, Gm17018, 5330431N19Rik

MMRRC Submission

045315-MU

Accession Numbers

Essential gene?

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

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45549018-45566728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45565473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 149 (Q149R)

Ref Sequence

ENSEMBL: ENSMUSP00000045683 (fasta)

Gene Model

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

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: Q149R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035
AA Change: Q149R

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	probably damaging	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
IGL02359: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
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

Predicted Primers

PCR Primer
(F):5'- TCAACCAGGCCTTTCTGCAG -3'
(R):5'- GCTTGTGATTACCACCACTGC -3'

Sequencing Primer
(F):5'- CTTTCTGCAGGCTCTCCC -3'
(R):5'- CCCCCAGATGAATAGGAGATGC -3'

Posted On

2019-06-26