Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Pkdcc'

328723

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83528570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 313 (T313M)

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: T48M

Predicted Effect

probably benign
Transcript: ENSMUST00000170794
AA Change: T313M

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: T313M

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	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
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
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'- CTAAAGCCAGAGCCTGTGAGTC -3'
(R):5'- AAGGTTATTCTCCCTGGTTGGC -3'

Sequencing Primer
(F):5'- TGACCCAGCCTATGTGTGAC -3'
(R):5'- GGTTGGCTCTTACTCCACCAG -3'

Posted On

2015-07-21