Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Pkdcc'

691929

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83528471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 280 (R280H)

Ref Sequence

ENSEMBL: ENSMUSP00000129238 (fasta)

Gene Model

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

AlphaFold

Q5RJI4

Predicted Effect

probably benign
Transcript: ENSMUST00000170758

Predicted Effect

probably damaging
Transcript: ENSMUST00000170794
AA Change: R280H

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

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: R280H

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,023,108 (GRCm39)	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,457,912 (GRCm39)	A14V	probably benign	Het
Adra2b	A	G	2: 127,205,858 (GRCm39)	Y125C	probably damaging	Het
Ahnak	T	A	19: 8,987,711 (GRCm39)	H2998Q	probably benign	Het
B3galt1	C	A	2: 67,948,406 (GRCm39)	H40Q	probably benign	Het
Best3	T	G	10: 116,860,680 (GRCm39)	L647V	probably benign	Het
Brip1	T	A	11: 86,077,897 (GRCm39)	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,409,109 (GRCm39)	D246G	probably benign	Het
C4b	G	A	17: 34,948,233 (GRCm39)	T1622M	probably benign	Het
Catip	G	A	1: 74,401,682 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,348,982 (GRCm39)	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,526,879 (GRCm39)	H243R	probably damaging	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Copz2	G	A	11: 96,747,514 (GRCm39)	D166N	possibly damaging	Het
Dedd	C	T	1: 171,168,572 (GRCm39)	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,497,713 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,339,484 (GRCm39)	S348T	probably damaging	Het
Eci3	A	G	13: 35,144,382 (GRCm39)		probably null	Het
Egr4	A	G	6: 85,490,337 (GRCm39)	S15P	probably benign	Het
Elp6	A	G	9: 110,134,397 (GRCm39)	T12A	probably benign	Het
Ewsr1	G	T	11: 5,041,367 (GRCm39)	P113T	unknown	Het
Exosc10	T	G	4: 148,664,859 (GRCm39)	L789R	probably benign	Het
Flt4	A	G	11: 49,525,161 (GRCm39)	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,836,517 (GRCm39)	F333I	probably damaging	Het
Frs2	G	T	10: 116,910,070 (GRCm39)	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm19410	T	C	8: 36,247,621 (GRCm39)	Y478H	probably damaging	Het
Gm3629	G	A	14: 17,834,542 (GRCm39)	R150C		Het
Grik4	A	C	9: 42,571,168 (GRCm39)	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,730,941 (GRCm39)		probably null	Het
Il20ra	T	A	10: 19,635,364 (GRCm39)	M535K	probably benign	Het
Il9	A	G	13: 56,628,401 (GRCm39)	V96A	possibly damaging	Het
Itgal	A	G	7: 126,910,794 (GRCm39)	D592G	probably damaging	Het
Klk1b11	C	T	7: 43,427,875 (GRCm39)		probably benign	Het
Klk1b27	G	A	7: 43,705,310 (GRCm39)	W159*	probably null	Het
Mapk9	T	C	11: 49,760,000 (GRCm39)	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,947 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,286,224 (GRCm39)	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,566,724 (GRCm39)	N131D	unknown	Het
Nbea	A	C	3: 55,862,809 (GRCm39)	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Or1j8	T	C	2: 36,191,956 (GRCm39)	V135A		Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or8g27	G	A	9: 39,128,831 (GRCm39)	M59I	probably damaging	Het
Pbx3	C	A	2: 34,114,629 (GRCm39)	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,320,492 (GRCm39)	V44I	probably benign	Het
Ppm1h	A	G	10: 122,638,264 (GRCm39)	E178G	probably benign	Het
Prom1	C	T	5: 44,172,161 (GRCm39)	S619N	probably benign	Het
Prtg	A	C	9: 72,755,607 (GRCm39)	I270L	probably damaging	Het
Rfx6	A	T	10: 51,599,106 (GRCm39)	H487L	probably damaging	Het
Rpl18a	A	C	8: 71,348,788 (GRCm39)	Y63D	probably benign	Het
Rtl1	T	A	12: 109,560,718 (GRCm39)	M374L	probably benign	Het
Scaper	A	G	9: 55,819,400 (GRCm39)	L105P	unknown	Het
Slc16a13	T	A	11: 70,111,530 (GRCm39)		probably benign	Het
Slc6a13	A	G	6: 121,313,044 (GRCm39)	K487R	probably benign	Het
Slc7a11	T	A	3: 50,332,082 (GRCm39)	T459S	probably benign	Het
Smarcad1	A	G	6: 65,075,649 (GRCm39)	Q708R	probably benign	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Syde1	T	C	10: 78,421,670 (GRCm39)	H627R	probably benign	Het
Tas2r113	G	A	6: 132,870,116 (GRCm39)	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,038,626 (GRCm39)	Y690C	probably damaging	Het
Tchh	A	T	3: 93,354,610 (GRCm39)	H1350L	unknown	Het
Tex15	T	A	8: 34,060,950 (GRCm39)	Y127N	possibly damaging	Het
Thsd4	T	C	9: 59,964,179 (GRCm39)	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,015,099 (GRCm39)	D216G	probably benign	Het
Tyk2	T	C	9: 21,026,762 (GRCm39)	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,743,217 (GRCm39)		probably null	Het
Uvssa	A	C	5: 33,571,404 (GRCm39)	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,457,166 (GRCm39)	M198K	probably benign	Het
Zfp772	T	A	7: 7,207,190 (GRCm39)	H167L	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
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
Z1088:Pkdcc	UTSW	17	83,529,579 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCAAGGGTCAGTTAGAGAC -3'
(R):5'- CCTGTAGGCATTGTAGAGGTTCC -3'

Sequencing Primer
(F):5'- TGACTTTTCCAATGGGACCAG -3'
(R):5'- AGAGGTTCCGTTTCTCATTCATG -3'

Posted On

2021-12-30