Mutagenetix > Incidental Mutation

Incidental Mutation 'R7046:Pkdcc'

547347

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

MMRRC Submission

045144-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83531687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 487 (Y487F)

Ref Sequence

ENSEMBL: ENSMUSP00000129238 (fasta)

Gene Model

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

AlphaFold

Q5RJI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000170794
AA Change: Y487F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: Y487F

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

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,772,364 (GRCm39)	Y805C	probably damaging	Het
Aoc1l3	T	A	6: 48,964,512 (GRCm39)	D173E	probably benign	Het
Cabp7	T	A	11: 4,688,886 (GRCm39)	I195F	probably damaging	Het
Camsap1	T	C	2: 25,835,201 (GRCm39)	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,500,994 (GRCm39)	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,774,100 (GRCm39)	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,287 (GRCm39)	V629D	probably damaging	Het
Cdh23	A	C	10: 60,214,530 (GRCm39)	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,542,875 (GRCm39)	K671R	probably benign	Het
Clca4b	T	C	3: 144,621,367 (GRCm39)	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,786,696 (GRCm39)		probably benign	Het
Cyp51	T	A	5: 4,150,188 (GRCm39)	E178D	probably damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,450,568 (GRCm39)	C727F	probably benign	Het
Egf	A	T	3: 129,548,607 (GRCm39)	W3R	unknown	Het
Egfem1	G	A	3: 29,136,364 (GRCm39)		probably null	Het
Epb41l1	G	T	2: 156,368,812 (GRCm39)	V682L	possibly damaging	Het
Etv1	A	G	12: 38,834,369 (GRCm39)		probably null	Het
Faap100	A	G	11: 120,268,200 (GRCm39)	F191S	possibly damaging	Het
Fmo1	T	A	1: 162,667,263 (GRCm39)	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,696,344 (GRCm39)	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278 (GRCm39)	L861F	probably damaging	Het
Gsr	T	A	8: 34,185,090 (GRCm39)	M428K	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kbtbd12	A	G	6: 88,595,497 (GRCm39)	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,623 (GRCm39)	Y6*	probably null	Het
Lin9	A	G	1: 180,494,935 (GRCm39)	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,076,739 (GRCm39)	M1V	probably null	Het
Macc1	T	G	12: 119,410,773 (GRCm39)	F514V	probably benign	Het
Madcam1	C	T	10: 79,504,139 (GRCm39)	R242C	probably benign	Het
Mfhas1	T	C	8: 36,131,944 (GRCm39)	S1037P	probably benign	Het
Micall2	C	T	5: 139,694,699 (GRCm39)		probably benign	Het
Mtr	C	A	13: 12,205,095 (GRCm39)	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,226,456 (GRCm39)		probably benign	Het
Myh15	T	A	16: 48,929,662 (GRCm39)	C529*	probably null	Het
Napsa	T	C	7: 44,234,509 (GRCm39)	V247A	probably damaging	Het
Nr2c2	A	G	6: 92,135,338 (GRCm39)	T309A	probably damaging	Het
Or1e26	A	T	11: 73,480,558 (GRCm39)	I2K	probably benign	Het
Or1q1	T	A	2: 36,887,173 (GRCm39)	V117E	probably benign	Het
Or2n1b	A	T	17: 38,459,691 (GRCm39)	M71L	probably benign	Het
Osgepl1	A	T	1: 53,360,710 (GRCm39)	I384F	possibly damaging	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,673,385 (GRCm39)	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,668,303 (GRCm39)	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,544,767 (GRCm39)	S122G	probably benign	Het
Plxna4	C	T	6: 32,493,440 (GRCm39)	C392Y	probably damaging	Het
Psd4	T	G	2: 24,284,985 (GRCm39)	M283R	probably benign	Het
Ralgds	G	T	2: 28,430,741 (GRCm39)	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,928,808 (GRCm39)	I20N	probably damaging	Het
Sestd1	A	G	2: 77,022,910 (GRCm39)	V486A	probably benign	Het
Skic8	T	A	9: 54,626,539 (GRCm39)	D275V	probably damaging	Het
Spmap2	G	T	10: 79,422,796 (GRCm39)	D35E	probably benign	Het
Tango6	A	G	8: 107,533,748 (GRCm39)	H958R	possibly damaging	Het
Taok3	C	T	5: 117,411,771 (GRCm39)	R857C	probably damaging	Het
Tasor	A	T	14: 27,194,392 (GRCm39)	L1197F	probably damaging	Het
Trio	T	C	15: 27,832,137 (GRCm39)	E1245G	probably damaging	Het
Usp19	C	T	9: 108,374,334 (GRCm39)	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,651 (GRCm39)	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,910,538 (GRCm39)	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,212,959 (GRCm39)	E152K	probably benign	Het
Xrcc5	G	A	1: 72,433,875 (GRCm39)	M731I	probably benign	Het
Zfp619	G	A	7: 39,186,787 (GRCm39)	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,590,418 (GRCm39)	C422F	probably damaging	Het
Zfp948	A	G	17: 21,808,719 (GRCm39)	D637G	possibly 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
R0180:Pkdcc	UTSW	17	83,529,299 (GRCm39)	critical splice donor site	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
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'- CAAAAGATGTGAAGGGCTCCCC -3'
(R):5'- GCTGGCAAACTCACATTTTAAC -3'

Sequencing Primer
(F):5'- GGGCTCCCCTCAGAAAAGC -3'
(R):5'- GCAAACTCACATTTTAACATTTTTGC -3'

Posted On

2019-05-13