Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Pkdcc'

400658

Institutional Source

Beutler Lab

Gene Symbol

Pkdcc

Ensembl Gene

ENSMUSG00000024247

Gene Name

protein kinase domain containing, cytoplasmic

Synonyms

MAd1, ESTM17, Vlk, Adtk1

MMRRC Submission

042810-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83522721-83532499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83523413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 173 (H173Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129238 (fasta)

Gene Model

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

AlphaFold

Q5RJI4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166528

Predicted Effect

probably benign
Transcript: ENSMUST00000170758

Predicted Effect

probably damaging
Transcript: ENSMUST00000170794
AA Change: H173Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129238
Gene: ENSMUSG00000024247
AA Change: H173Q

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

0.1402

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

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
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Cish	T	A	9: 107,177,111 (GRCm39)		probably null	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nr2e3	G	T	9: 59,857,059 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or8g54	T	A	9: 39,707,492 (GRCm39)	S274T	probably damaging	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Smoc2	A	G	17: 14,589,227 (GRCm39)	N232S	probably benign	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r122	T	C	7: 20,868,023 (GRCm39)	T11A	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably 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
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'- AGGAGGTGCAGCGCTATTC -3'
(R):5'- AGTCTTTCAGAGTGGCCAGC -3'

Sequencing Primer
(F):5'- TGATGGACCTGGCTCCG -3'
(R):5'- CAGCCAGCCCCCTCATC -3'

Posted On

2016-07-06