Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Pkdcc'

76559

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

MMRRC Submission

038979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83531347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 452 (C452Y)

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

unknown
Transcript: ENSMUST00000170758
AA Change: C187Y

Predicted Effect

probably damaging
Transcript: ENSMUST00000170794
AA Change: C452Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: C452Y

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

0.9054

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,100,101 (GRCm39)	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,948,474 (GRCm39)		noncoding transcript	Het
Abcf3	T	C	16: 20,378,084 (GRCm39)	L538P	probably damaging	Het
Adamts6	T	C	13: 104,450,779 (GRCm39)	S321P	probably damaging	Het
Adgra2	G	A	8: 27,602,523 (GRCm39)	R362H	probably damaging	Het
AI597479	T	G	1: 43,150,330 (GRCm39)	S147A	probably benign	Het
Ajm1	A	G	2: 25,468,574 (GRCm39)	S446P	possibly damaging	Het
Ampd3	T	C	7: 110,399,904 (GRCm39)	F340L	probably damaging	Het
Atad3a	A	G	4: 155,831,927 (GRCm39)	V449A	probably damaging	Het
Bmal2	T	C	6: 146,724,751 (GRCm39)		probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Brca2	T	C	5: 150,483,658 (GRCm39)	S2903P	probably damaging	Het
Cct3	A	T	3: 88,206,652 (GRCm39)		probably null	Het
Cdk4	A	G	10: 126,900,863 (GRCm39)	T172A	probably damaging	Het
Chd5	A	G	4: 152,468,616 (GRCm39)	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310 (GRCm39)		probably benign	Het
Crybb2	T	C	5: 113,210,037 (GRCm39)	I109V	probably benign	Het
Csmd3	A	G	15: 48,048,780 (GRCm39)		probably benign	Het
Dach1	G	T	14: 98,406,051 (GRCm39)	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,241,485 (GRCm39)	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Eps15l1	C	T	8: 73,099,929 (GRCm39)	D821N	probably damaging	Het
Fam186a	G	A	15: 99,839,893 (GRCm39)	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,621,808 (GRCm39)	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,817,772 (GRCm39)	R214S	probably benign	Het
Gtpbp1	A	G	15: 79,600,401 (GRCm39)	I445V	probably damaging	Het
H2-M2	G	A	17: 37,793,640 (GRCm39)	T122I	probably damaging	Het
Hgd	C	T	16: 37,448,971 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,135,004 (GRCm39)	Y380C	probably benign	Het
Hspa8	G	A	9: 40,715,137 (GRCm39)	G389R	probably damaging	Het
Htt	C	A	5: 34,975,097 (GRCm39)	D622E	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm4a	A	G	4: 118,004,189 (GRCm39)		probably null	Het
Map3k9	G	A	12: 81,769,043 (GRCm39)	P1025S	probably benign	Het
Or8b47	G	A	9: 38,435,437 (GRCm39)	M136I	probably benign	Het
Pabpc1l	C	A	2: 163,873,134 (GRCm39)	H135N	probably benign	Het
Pacsin2	A	T	15: 83,263,998 (GRCm39)	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,638,938 (GRCm39)	Y488C	probably damaging	Het
Poglut1	T	C	16: 38,355,083 (GRCm39)		probably null	Het
Prss59	A	G	6: 40,905,533 (GRCm39)	M41T	probably damaging	Het
Pxk	T	C	14: 8,148,123 (GRCm38)	F409L	probably benign	Het
Pygm	G	A	19: 6,436,048 (GRCm39)		probably benign	Het
Rabep2	T	C	7: 126,037,896 (GRCm39)	S223P	probably damaging	Het
Rpp40	C	T	13: 36,086,034 (GRCm39)	R109H	probably benign	Het
Sbf2	T	C	7: 109,940,562 (GRCm39)	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,012,368 (GRCm39)	V346A	probably benign	Het
Smpd3	G	T	8: 106,991,421 (GRCm39)	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,762,227 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,385 (GRCm39)	I288T	probably benign	Het
Trim35	T	A	14: 66,546,650 (GRCm39)	H472Q	probably damaging	Het
Trpm5	C	A	7: 142,632,088 (GRCm39)	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393 (GRCm38)	S56*	probably null	Het
Vmn2r88	A	C	14: 51,651,959 (GRCm39)	R432S	possibly damaging	Het
Wdr24	A	G	17: 26,045,102 (GRCm39)	Y279C	probably damaging	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xrn2	T	A	2: 146,871,818 (GRCm39)	N385K	probably benign	Het
Zfp28	T	A	7: 6,387,182 (GRCm39)	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,314,271 (GRCm39)	E422G	probably benign	Het
Zhx2	A	G	15: 57,684,709 (GRCm39)	E26G	probably benign	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
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'- ATGAGTCTTGCGATCCCTGCTCAC -3'
(R):5'- GTCCTGGTCACATCAGTTGCTCTG -3'

Sequencing Primer
(F):5'- GATCCCTGCTCACAGAGCC -3'
(R):5'- TTCCCAGGTGGGATGCAAG -3'

Posted On

2013-10-16