Mutagenetix > Incidental Mutation

Incidental Mutation 'R0180:Pkdcc'

23873

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 83529299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170794]

AlphaFold

Q5RJI4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168118

Predicted Effect

probably null
Transcript: ENSMUST00000170758

Predicted Effect

probably null
Transcript: ENSMUST00000170794

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	28	55	N/A	INTRINSIC
low complexity region	72	86	N/A	INTRINSIC
low complexity region	92	128	N/A	INTRINSIC
Pfam:Pkinase	139	321	1.3e-5	PFAM
Pfam:PIP49_C	196	373	3.8e-11	PFAM

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

MGI Phenotype

PHENOTYPE: Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,630,003 (GRCm39)	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,789,702 (GRCm39)	M311K	probably benign	Het
Ackr2	T	C	9: 121,737,982 (GRCm39)	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,225,198 (GRCm39)	M336V	probably benign	Het
Adhfe1	T	A	1: 9,634,082 (GRCm39)	F374I	probably benign	Het
Apob	C	T	12: 8,058,285 (GRCm39)	Q2256*	probably null	Het
Arg1	T	C	10: 24,792,728 (GRCm39)	I169V	probably benign	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,587,850 (GRCm39)	I23K	possibly damaging	Het
Catsperg1	A	T	7: 28,889,856 (GRCm39)		probably null	Het
Celf3	T	A	3: 94,392,647 (GRCm39)	F115L	probably damaging	Het
Cep192	T	A	18: 67,968,559 (GRCm39)	H984Q	probably damaging	Het
Col18a1	A	G	10: 76,932,351 (GRCm39)	V493A	probably benign	Het
Col5a2	C	T	1: 45,450,620 (GRCm39)	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890 (GRCm39)	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cracr2a	T	C	6: 127,581,037 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,310,559 (GRCm39)	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,878,641 (GRCm39)	W61L	probably benign	Het
Dnah9	T	G	11: 66,038,116 (GRCm39)	H140P	probably damaging	Het
Dnai7	A	G	6: 145,128,944 (GRCm39)		probably benign	Het
Dnm1	T	G	2: 32,218,005 (GRCm39)	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
Efhc1	A	G	1: 21,037,713 (GRCm39)	M297V	probably benign	Het
Emcn	A	T	3: 137,124,755 (GRCm39)		probably null	Het
Ephb1	A	T	9: 101,804,703 (GRCm39)	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,743,922 (GRCm39)	Y276C	probably benign	Het
Fermt3	C	A	19: 6,979,711 (GRCm39)	S474I	possibly damaging	Het
Frg1	T	A	8: 41,852,105 (GRCm39)		probably null	Het
Gbf1	T	C	19: 46,274,161 (GRCm39)	S1732P	probably benign	Het
Gbp8	A	C	5: 105,179,142 (GRCm39)	L119R	probably damaging	Het
Gldc	C	T	19: 30,078,217 (GRCm39)	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,237,389 (GRCm39)		probably benign	Het
Grhl3	C	T	4: 135,281,841 (GRCm39)	V344I	probably benign	Het
Hhipl1	T	A	12: 108,294,329 (GRCm39)	L745H	probably damaging	Het
Ido1	T	C	8: 25,083,156 (GRCm39)	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,403,407 (GRCm39)		probably benign	Het
Kif1b	T	G	4: 149,298,116 (GRCm39)	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,738,148 (GRCm39)		probably benign	Het
Limk1	T	C	5: 134,698,115 (GRCm39)	N215D	probably damaging	Het
Lims2	A	G	18: 32,089,368 (GRCm39)	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,447,371 (GRCm39)	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,312,450 (GRCm39)	S546T	probably damaging	Het
Ncbp3	T	A	11: 72,955,804 (GRCm39)		probably null	Het
Nlrx1	G	A	9: 44,166,756 (GRCm39)	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,678,604 (GRCm39)	M228V	probably benign	Het
Nsf	T	A	11: 103,821,606 (GRCm39)	L13F	probably damaging	Het
Nyap1	T	C	5: 137,736,283 (GRCm39)	E68G	probably damaging	Het
Or10p22	A	T	10: 128,826,703 (GRCm39)	R307S	possibly damaging	Het
Or51r1	A	G	7: 102,228,239 (GRCm39)	Y179C	probably damaging	Het
Pcdhb9	A	G	18: 37,535,307 (GRCm39)	N434D	probably damaging	Het
Pgm5	T	C	19: 24,793,127 (GRCm39)	D313G	probably damaging	Het
Pkp1	T	C	1: 135,814,538 (GRCm39)	K261R	probably benign	Het
Pnpla6	A	G	8: 3,574,250 (GRCm39)		probably null	Het
Polr3b	A	G	10: 84,458,379 (GRCm39)	T17A	probably benign	Het
Ppt2	A	T	17: 34,845,477 (GRCm39)	M98K	probably damaging	Het
Rasal3	T	C	17: 32,618,379 (GRCm39)	D142G	probably benign	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,160,042 (GRCm39)	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,710,455 (GRCm39)	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,628,883 (GRCm39)		probably benign	Het
Sorcs2	A	T	5: 36,311,189 (GRCm39)	I37N	probably damaging	Het
Tecta	G	T	9: 42,278,109 (GRCm39)	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,014,124 (GRCm39)	I413V	probably benign	Het
Trappc11	G	T	8: 47,981,009 (GRCm39)	T144K	possibly damaging	Het
Triml2	A	T	8: 43,643,346 (GRCm39)	I223L	probably benign	Het
Ube2g2	T	A	10: 77,466,573 (GRCm39)	N19K	possibly damaging	Het
Ubqln3	A	G	7: 103,791,047 (GRCm39)	Y348H	probably damaging	Het
Wfs1	A	G	5: 37,124,372 (GRCm39)	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,549,349 (GRCm39)	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp106	T	G	2: 120,364,356 (GRCm39)	T684P	probably damaging	Het
Zfp217	A	T	2: 169,962,057 (GRCm39)	L90Q	probably damaging	Het

Other mutations in Pkdcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01897:Pkdcc	APN	17	83,527,548 (GRCm39)	missense	probably damaging	1.00
IGL02517:Pkdcc	APN	17	83,531,295 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Pkdcc	UTSW	17	83,527,577 (GRCm39)	nonsense	probably null
R0321:Pkdcc	UTSW	17	83,529,541 (GRCm39)	splice site	probably benign
R0559:Pkdcc	UTSW	17	83,523,454 (GRCm39)	missense	probably benign	0.00
R0799:Pkdcc	UTSW	17	83,531,347 (GRCm39)	missense	probably damaging	1.00
R1512:Pkdcc	UTSW	17	83,527,473 (GRCm39)	missense	possibly damaging	0.88
R2484:Pkdcc	UTSW	17	83,529,667 (GRCm39)	splice site	probably benign
R2916:Pkdcc	UTSW	17	83,523,378 (GRCm39)	missense	probably benign	0.00
R2918:Pkdcc	UTSW	17	83,523,378 (GRCm39)	missense	probably benign	0.00
R3120:Pkdcc	UTSW	17	83,527,466 (GRCm39)	missense	probably damaging	1.00
R3794:Pkdcc	UTSW	17	83,531,382 (GRCm39)	missense	probably damaging	0.97
R3795:Pkdcc	UTSW	17	83,531,382 (GRCm39)	missense	probably damaging	0.97
R4433:Pkdcc	UTSW	17	83,528,570 (GRCm39)	missense	probably benign	0.02
R4689:Pkdcc	UTSW	17	83,523,290 (GRCm39)	missense	probably damaging	1.00
R5239:Pkdcc	UTSW	17	83,523,413 (GRCm39)	missense	probably damaging	1.00
R5580:Pkdcc	UTSW	17	83,527,511 (GRCm39)	missense	probably damaging	0.96
R5654:Pkdcc	UTSW	17	83,523,337 (GRCm39)	missense	probably damaging	1.00
R5739:Pkdcc	UTSW	17	83,523,223 (GRCm39)	missense	probably benign	0.44
R6456:Pkdcc	UTSW	17	83,527,548 (GRCm39)	missense	probably damaging	1.00
R7046:Pkdcc	UTSW	17	83,531,687 (GRCm39)	missense	probably damaging	0.97
R7050:Pkdcc	UTSW	17	83,523,073 (GRCm39)	missense	possibly damaging	0.46
R8557:Pkdcc	UTSW	17	83,528,495 (GRCm39)	missense	probably benign	0.02
R8833:Pkdcc	UTSW	17	83,531,355 (GRCm39)	missense	probably damaging	0.99
R9104:Pkdcc	UTSW	17	83,528,471 (GRCm39)	missense	probably damaging	1.00
Z1088:Pkdcc	UTSW	17	83,529,579 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTTCCCAGACCACGTTGAAGTCC -3'
(R):5'- GGTTACTACCACATGCCCGGTTAC -3'

Sequencing Primer
(F):5'- GACCACGTTGAAGTCCATTGC -3'
(R):5'- GGTTACCACCACATGCCTG -3'

Posted On

2013-04-16