Mutagenetix > Incidental Mutations

Incidental Mutation 'R3794:Pkdcc'

272706

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, Vlk, Adtk1, ESTM17

MMRRC Submission

040756-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3794 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

83215292-83225070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83223953 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 464 (T464A)

Ref Sequence

ENSEMBL: ENSMUSP00000129238 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168118

Predicted Effect

unknown
Transcript: ENSMUST00000170758
AA Change: T199A

Predicted Effect

probably damaging
Transcript: ENSMUST00000170794
AA Change: T464A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: T464A

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

0.2454

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	G	X: 112,240,678	M1R	probably null	Het
Adcy6	C	T	15: 98,598,943	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,283,367	M1L	probably damaging	Het
Ceacam13	A	G	7: 18,013,415	*264W	probably null	Het
D430042O09Rik	A	G	7: 125,820,089	N476S	probably benign	Het
Dennd5b	A	T	6: 149,101,217	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,604,561	V706A	probably damaging	Het
Enpp3	T	C	10: 24,831,732		probably null	Het
Exoc4	T	G	6: 33,475,997	V474G	probably benign	Het
F2rl1	A	G	13: 95,513,211	Y388H	unknown	Het
Fasl	T	C	1: 161,781,737	R17G	probably benign	Het
Htr1a	G	A	13: 105,444,344	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,033,216	V445A	probably damaging	Het
Itih3	T	C	14: 30,918,394	Y319C	probably damaging	Het
Kmt2d	T	C	15: 98,837,359		probably benign	Het
Mobp	A	T	9: 120,167,967	K55*	probably null	Het
Ndufaf5	T	A	2: 140,202,923	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,947,875	I1057V	probably benign	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr129	A	G	17: 38,054,895	Y224H	probably damaging	Het
Piezo2	C	T	18: 63,081,793	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,665,191	S223P	possibly damaging	Het
Polr2k	A	G	15: 36,175,047	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scaf8	A	G	17: 3,190,249	E632G	probably damaging	Het
Smurf1	A	G	5: 144,901,175		probably null	Het
Tcrg-V5	A	T	13: 19,192,524	H47L	probably benign	Het
Tln1	G	T	4: 43,536,295	A1999D	probably damaging	Het
Ttn	C	T	2: 76,942,437	V2405I	possibly damaging	Het
Vps13d	G	A	4: 145,085,437		probably benign	Het
Xrcc1	A	G	7: 24,570,560	T469A	probably benign	Het
Zfp287	G	T	11: 62,714,244	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,225,149	H509Y	probably damaging	Het

Other mutations in Pkdcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01897:Pkdcc	APN	17	83220119	missense	probably damaging	1.00
IGL02517:Pkdcc	APN	17	83223866	missense	probably damaging	1.00
PIT4791001:Pkdcc	UTSW	17	83220148	nonsense	probably null
R0180:Pkdcc	UTSW	17	83221870	critical splice donor site	probably null
R0321:Pkdcc	UTSW	17	83222112	splice site	probably benign
R0559:Pkdcc	UTSW	17	83216025	missense	probably benign	0.00
R0799:Pkdcc	UTSW	17	83223918	missense	probably damaging	1.00
R1512:Pkdcc	UTSW	17	83220044	missense	possibly damaging	0.88
R2484:Pkdcc	UTSW	17	83222238	splice site	probably benign
R2916:Pkdcc	UTSW	17	83215949	missense	probably benign	0.00
R2918:Pkdcc	UTSW	17	83215949	missense	probably benign	0.00
R3120:Pkdcc	UTSW	17	83220037	missense	probably damaging	1.00
R3795:Pkdcc	UTSW	17	83223953	missense	probably damaging	0.97
R4433:Pkdcc	UTSW	17	83221141	missense	probably benign	0.02
R4689:Pkdcc	UTSW	17	83215861	missense	probably damaging	1.00
R5239:Pkdcc	UTSW	17	83215984	missense	probably damaging	1.00
R5580:Pkdcc	UTSW	17	83220082	missense	probably damaging	0.96
R5654:Pkdcc	UTSW	17	83215908	missense	probably damaging	1.00
R5739:Pkdcc	UTSW	17	83215794	missense	probably benign	0.44
R6456:Pkdcc	UTSW	17	83220119	missense	probably damaging	1.00
R7046:Pkdcc	UTSW	17	83224258	missense	probably damaging	0.97
R7050:Pkdcc	UTSW	17	83215644	missense	possibly damaging	0.46
R8557:Pkdcc	UTSW	17	83221066	missense	probably benign	0.02
Z1088:Pkdcc	UTSW	17	83222150	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTAGAGTACCAGCGCATCC -3'
(R):5'- AAGACCAGCTTCCGACCTAG -3'

Sequencing Primer
(F):5'- ATCCCGGACAGTGCCATC -3'
(R):5'- TCTTCTTGGAGGTAAGACTACTTTC -3'

Posted On

2015-03-25