Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Prkdc'

49638

Institutional Source

Beutler Lab

Gene Symbol

Prkdc

Ensembl Gene

ENSMUSG00000022672

Gene Name

protein kinase, DNA activated, catalytic polypeptide

Synonyms

slip, DOXNPH, DNA-PKcs, XRCC7, dxnph, DNA-PK, DNAPDcs

MMRRC Submission

038730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15637866-15842235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15833788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 3763 (R3763L)

Ref Sequence

ENSEMBL: ENSMUSP00000023352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023352]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023352
AA Change: R3763L

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

SMART Domains

Protein: ENSMUSP00000023352
Gene: ENSMUSG00000022672
AA Change: R3763L

Domain	Start	End	E-Value	Type
low complexity region	125	138	N/A	INTRINSIC
low complexity region	1253	1263	N/A	INTRINSIC
low complexity region	1508	1522	N/A	INTRINSIC
NUC194	1810	2206	2.37e-246	SMART
SCOP:d1gw5a_	2210	2493	5e-3	SMART
low complexity region	2669	2681	N/A	INTRINSIC
low complexity region	2841	2855	N/A	INTRINSIC
Pfam:FAT	3024	3470	8.2e-75	PFAM
PI3Kc	3749	4068	3.67e-86	SMART
FATC	4096	4128	1.57e-9	SMART

Meta Mutation Damage Score

0.4964

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (126/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 66,938,374	H6L	unknown	Het
Abca13	G	A	11: 9,267,622		probably null	Het
Acad12	C	T	5: 121,607,448	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,260,100		probably benign	Het
Acvrl1	A	G	15: 101,136,149	T182A	probably damaging	Het
Adam23	T	C	1: 63,567,844		probably benign	Het
Adamtsl1	A	T	4: 86,343,121	T1190S	probably benign	Het
Adh6b	A	T	3: 138,357,650	Y330F	probably benign	Het
Ak7	A	G	12: 105,766,617	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,237,100	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,049,852	S57T	probably damaging	Het
Aoc3	G	A	11: 101,332,138	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,941,837	I46N	probably damaging	Het
Armc5	A	G	7: 128,244,291	D752G	probably damaging	Het
Atp11b	T	C	3: 35,837,014	V812A	probably damaging	Het
Axin1	A	G	17: 26,184,241	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,923,869	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,524,383		probably benign	Het
Catsperd	T	C	17: 56,662,828	F641L	probably benign	Het
Ccdc83	A	C	7: 90,228,383	L284V	probably damaging	Het
Ccnt2	T	A	1: 127,803,165	V593E	probably damaging	Het
Cd53	T	A	3: 106,762,128	I185F	probably benign	Het
Cep350	A	T	1: 155,848,620	D3077E	possibly damaging	Het
Ces1h	C	A	8: 93,357,000		probably null	Het
Chrna3	T	A	9: 55,016,006	T173S	probably benign	Het
Clca4b	T	C	3: 144,921,956	D418G	probably benign	Het
Col11a2	T	C	17: 34,051,328		probably benign	Het
Coq2	T	A	5: 100,668,023	I97F	possibly damaging	Het
Cr2	A	G	1: 195,160,359		probably benign	Het
Ctgf	T	A	10: 24,596,466	C136S	probably damaging	Het
D2hgdh	A	G	1: 93,826,377	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,191,693	R974C	probably damaging	Het
Dach1	A	G	14: 97,903,279	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,685,007	T660I	probably damaging	Het
Dlg1	A	C	16: 31,796,864		probably null	Het
Dmbt1	T	C	7: 131,049,901		probably benign	Het
Dmxl2	A	T	9: 54,393,836	D2330E	probably benign	Het
Doc2a	A	G	7: 126,848,811	T5A	probably benign	Het
Dock2	G	A	11: 34,704,718		probably benign	Het
Dok4	T	A	8: 94,865,238	Y290F	probably damaging	Het
Dopey1	A	G	9: 86,485,497	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,688,934	H235R	probably benign	Het
Ear6	A	G	14: 51,854,452	D152G	probably damaging	Het
Ecscr	T	A	18: 35,713,636		probably benign	Het
Eml6	A	T	11: 29,760,010		probably benign	Het
Epha4	T	A	1: 77,388,541	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,972,063	N947S	probably benign	Het
Flg	A	G	3: 93,279,460	E73G	probably damaging	Het
Fndc1	C	T	17: 7,784,341		probably benign	Het
Gad1-ps	T	C	10: 99,444,992		noncoding transcript	Het
Gata6	A	G	18: 11,064,771	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244	E278G	probably benign	Het
Gm13101	T	A	4: 143,965,083	T357S	possibly damaging	Het
Gm20091	T	A	10: 96,409,002		noncoding transcript	Het
Gnb3	G	A	6: 124,835,696	Q266*	probably null	Het
Grm3	A	G	5: 9,512,446	V468A	possibly damaging	Het
Igf1r	C	T	7: 68,207,826	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,320,106	T2049A	probably damaging	Het
Jak3	A	T	8: 71,685,482	D859V	probably benign	Het
Kcnb2	G	T	1: 15,712,884		probably benign	Het
Kcnh3	G	A	15: 99,240,958	G858D	probably benign	Het
Kif1a	C	A	1: 93,043,638	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,824,413	A209V	probably benign	Het
Mapk13	T	C	17: 28,775,255	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,849,482	S183P	probably damaging	Het
Mga	T	C	2: 119,919,706		probably null	Het
Mipol1	G	A	12: 57,414,411		probably null	Het
Mmp14	A	G	14: 54,438,709	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,976,469	E578G	probably benign	Het
Mov10l1	G	A	15: 88,994,860	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,237,477	C50R	probably damaging	Het
Msantd1	C	A	5: 34,917,725	R44S	probably damaging	Het
Myt1l	T	C	12: 29,842,571	V69A	possibly damaging	Het
Nav1	A	T	1: 135,464,692		probably benign	Het
Ncan	A	G	8: 70,108,602	S572P	possibly damaging	Het
Nck2	T	C	1: 43,569,144		probably benign	Het
Nemf	A	T	12: 69,356,314	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,249,262	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930		probably null	Het
Nup98	T	C	7: 102,186,685	T184A	probably damaging	Het
Olfr1415	A	T	1: 92,491,333	C141S	possibly damaging	Het
Olfr46	A	T	7: 140,610,384	N73Y	probably damaging	Het
Olfr522	A	T	7: 140,162,231	S240T	probably damaging	Het
Oog2	C	A	4: 144,196,084	Y306*	probably null	Het
Osmr	A	G	15: 6,841,938		probably benign	Het
P2rx6	A	G	16: 17,568,298	N275S	probably benign	Het
Papd4	A	T	13: 93,175,615		probably benign	Het
Pbxip1	G	T	3: 89,447,619	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,325,334	I249L	probably damaging	Het
Pou4f2	C	T	8: 78,435,662	G104E	probably damaging	Het
Ptpre	A	T	7: 135,663,315	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,757,817		probably benign	Het
Rasgrp1	T	G	2: 117,284,947	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,238	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,022,092	V61G	probably damaging	Het
Scin	A	C	12: 40,081,771	S255A	probably damaging	Het
Scn8a	A	T	15: 101,035,624	K1570*	probably null	Het
Sec14l4	A	C	11: 4,040,018	M106L	probably benign	Het
Sec63	G	A	10: 42,798,799	R226H	probably benign	Het
Sept2	T	A	1: 93,501,623	N271K	probably damaging	Het
Serac1	G	T	17: 6,048,826		probably benign	Het
Shc2	T	A	10: 79,630,140		probably benign	Het
Sipa1l1	T	A	12: 82,425,099	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,408,216	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,650,922	T151S	probably benign	Het
Smarca2	G	T	19: 26,691,362	K920N	probably damaging	Het
Sugp2	G	A	8: 70,258,948	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,711,815	N38K	probably benign	Het
Tecpr1	G	A	5: 144,206,274	R730C	probably damaging	Het
Themis3	G	T	17: 66,593,270	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,499,619	T104A	unknown	Het
Trappc11	A	G	8: 47,503,412	V843A	probably benign	Het
Trmt61a	T	A	12: 111,678,927	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,471,481	K91N	probably damaging	Het
Ufsp2	T	C	8: 45,992,150	S339P	probably damaging	Het
Usp20	T	A	2: 31,004,450	V126E	probably damaging	Het
Vmn1r75	T	A	7: 11,880,870	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,816,053	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,457,591		probably null	Het
Vps13d	A	T	4: 145,045,095	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,022,651	T421A	probably damaging	Het
Wdr78	T	C	4: 103,096,618	N128S	possibly damaging	Het
Wdr95	C	A	5: 149,580,806	L332I	probably damaging	Het
Wrn	T	A	8: 33,336,091	K181I	probably damaging	Het
Zc3h6	T	A	2: 129,017,223	I1058N	possibly damaging	Het
Zfp423	T	A	8: 87,782,085	I544F	probably damaging	Het
Zfp446	T	A	7: 12,979,589	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,123,369	M889K	probably benign	Het

Other mutations in Prkdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Prkdc	APN	16	15697226	missense	probably damaging	1.00
IGL00225:Prkdc	APN	16	15809644	missense	possibly damaging	0.64
IGL00481:Prkdc	APN	16	15790466	missense	probably benign	0.41
IGL00488:Prkdc	APN	16	15775847	splice site	probably null
IGL00489:Prkdc	APN	16	15799926	missense	possibly damaging	0.51
IGL00579:Prkdc	APN	16	15664239	missense	probably damaging	1.00
IGL00587:Prkdc	APN	16	15652358	splice site	probably benign
IGL00666:Prkdc	APN	16	15736835	missense	probably damaging	1.00
IGL00675:Prkdc	APN	16	15787158	missense	probably benign	0.05
IGL00708:Prkdc	APN	16	15779426	missense	probably damaging	0.97
IGL00725:Prkdc	APN	16	15816639	missense	probably benign	0.10
IGL00818:Prkdc	APN	16	15759754	missense	possibly damaging	0.92
IGL00917:Prkdc	APN	16	15739564	missense	probably damaging	0.98
IGL00990:Prkdc	APN	16	15702115	missense	probably benign	0.03
IGL01126:Prkdc	APN	16	15669321	missense	probably benign	0.01
IGL01141:Prkdc	APN	16	15726704	missense	probably damaging	0.99
IGL01306:Prkdc	APN	16	15667731	missense	possibly damaging	0.67
IGL01326:Prkdc	APN	16	15829692	missense	probably benign
IGL01335:Prkdc	APN	16	15816896	critical splice donor site	probably null
IGL01419:Prkdc	APN	16	15835166	missense	probably damaging	1.00
IGL01434:Prkdc	APN	16	15713587	missense	probably benign	0.00
IGL01554:Prkdc	APN	16	15652302	missense	probably benign	0.05
IGL01671:Prkdc	APN	16	15667745	missense	possibly damaging	0.90
IGL01871:Prkdc	APN	16	15783087	missense	probably benign	0.00
IGL01874:Prkdc	APN	16	15734994	missense	possibly damaging	0.89
IGL01930:Prkdc	APN	16	15698887	missense	probably damaging	1.00
IGL01984:Prkdc	APN	16	15708779	missense	probably benign
IGL02121:Prkdc	APN	16	15717184	missense	probably benign	0.18
IGL02152:Prkdc	APN	16	15669285	missense	probably benign	0.15
IGL02172:Prkdc	APN	16	15809759	missense	probably benign	0.10
IGL02336:Prkdc	APN	16	15785978	missense	possibly damaging	0.47
IGL02336:Prkdc	APN	16	15785979	missense	probably benign	0.01
IGL02393:Prkdc	APN	16	15816758	missense	probably benign	0.42
IGL02406:Prkdc	APN	16	15670535	missense	probably benign	0.00
IGL02500:Prkdc	APN	16	15714282	critical splice donor site	probably null
IGL02568:Prkdc	APN	16	15726542	missense	probably damaging	0.98
IGL02579:Prkdc	APN	16	15670601	missense	possibly damaging	0.83
IGL02652:Prkdc	APN	16	15783087	missense	probably benign	0.00
IGL02661:Prkdc	APN	16	15769825	missense	possibly damaging	0.92
IGL02685:Prkdc	APN	16	15836043	missense	possibly damaging	0.61
IGL02741:Prkdc	APN	16	15752726	splice site	probably benign
IGL02803:Prkdc	APN	16	15833666	splice site	probably benign
IGL02866:Prkdc	APN	16	15831327	missense	probably damaging	1.00
IGL02882:Prkdc	APN	16	15651519	nonsense	probably null
IGL02989:Prkdc	APN	16	15800016	missense	possibly damaging	0.67
IGL03053:Prkdc	APN	16	15834166	missense	probably benign	0.02
IGL03071:Prkdc	APN	16	15799984	missense	probably benign	0.01
IGL03091:Prkdc	APN	16	15705310	splice site	probably benign
IGL03100:Prkdc	APN	16	15713635	missense	probably benign	0.08
IGL03128:Prkdc	APN	16	15700744	splice site	probably benign
IGL03168:Prkdc	APN	16	15834166	missense	probably benign	0.02
IGL03204:Prkdc	APN	16	15769801	missense	probably benign	0.01
IGL03390:Prkdc	APN	16	15670626	nonsense	probably null
anhimid	UTSW	16	15725461	critical splice donor site	probably null
anhinga	UTSW	16	15708932	critical splice donor site	probably null
Bushtit	UTSW	16	15752764	missense	probably damaging	0.97
clover	UTSW	16	15702156	splice site	probably benign
crackle	UTSW	16	15786050	critical splice donor site	probably null
Daffy	UTSW	16	15829697	missense	possibly damaging	0.86
darter	UTSW	16	15773613	missense	possibly damaging	0.93
Elmer_fudd	UTSW	16	15808058	missense	probably benign	0.01
envenomation	UTSW	16	15835227	nonsense	probably null
hobgoblin	UTSW	16	15815986	missense	probably damaging	1.00
Incubus	UTSW	16	15672327	missense	probably damaging	1.00
liming	UTSW	16	15752829	nonsense	probably null
newt	UTSW	16	15727726	missense	probably benign	0.04
ornithorhynchus	UTSW	16	15816659	critical splice donor site	probably null
primitive	UTSW	16	15835158	frame shift	probably null
roadrunner	UTSW	16	15833887	missense	probably damaging	1.00
Schreier	UTSW	16	15670528	missense	probably benign	0.00
screamer	UTSW	16	15831282	nonsense	probably null
Screamer10	UTSW	16	15768025	missense	probably damaging	0.98
screamer2	UTSW	16	15652552	critical splice donor site	probably null
screamer3	UTSW	16	15740332	critical splice donor site	probably null
screamer4	UTSW	16	15783079	missense	probably benign	0.00
screamer5	UTSW	16	15687404	missense	probably benign
screamer6	UTSW	16	15759605	missense	probably damaging	1.00
screamer7	UTSW	16	15654817	splice site	probably null
Screamer8	UTSW	16	15719433	missense	probably benign	0.00
Screamer9	UTSW	16	15734922	missense	probably benign	0.01
Tweetie	UTSW	16	15717801	missense	probably damaging	1.00
updock	UTSW	16	15795094	missense	probably benign
ANU23:Prkdc	UTSW	16	15667731	missense	possibly damaging	0.67
R0008:Prkdc	UTSW	16	15708701	splice site	probably benign
R0018:Prkdc	UTSW	16	15726542	missense	probably benign	0.03
R0018:Prkdc	UTSW	16	15726542	missense	probably benign	0.03
R0069:Prkdc	UTSW	16	15726504	missense	probably benign	0.03
R0125:Prkdc	UTSW	16	15699007	missense	probably damaging	0.98
R0131:Prkdc	UTSW	16	15713653	missense	probably benign	0.09
R0131:Prkdc	UTSW	16	15713653	missense	probably benign	0.09
R0132:Prkdc	UTSW	16	15713653	missense	probably benign	0.09
R0137:Prkdc	UTSW	16	15740332	critical splice donor site	probably null
R0334:Prkdc	UTSW	16	15736799	missense	probably benign	0.00
R0373:Prkdc	UTSW	16	15791927	missense	probably damaging	1.00
R0485:Prkdc	UTSW	16	15833740	missense	probably damaging	0.97
R0511:Prkdc	UTSW	16	15831282	nonsense	probably null
R0595:Prkdc	UTSW	16	15808088	missense	probably damaging	1.00
R0607:Prkdc	UTSW	16	15772057	missense	probably damaging	0.98
R0616:Prkdc	UTSW	16	15690407	missense	probably damaging	1.00
R0630:Prkdc	UTSW	16	15810801	missense	probably damaging	1.00
R0694:Prkdc	UTSW	16	15768637	missense	probably damaging	1.00
R0702:Prkdc	UTSW	16	15785971	missense	possibly damaging	0.95
R0965:Prkdc	UTSW	16	15829716	missense	probably benign
R1027:Prkdc	UTSW	16	15650712	missense	possibly damaging	0.80
R1029:Prkdc	UTSW	16	15654749	splice site	probably benign
R1033:Prkdc	UTSW	16	15767951	missense	probably damaging	1.00
R1067:Prkdc	UTSW	16	15752782	missense	probably damaging	0.99
R1116:Prkdc	UTSW	16	15783079	missense	probably benign	0.00
R1187:Prkdc	UTSW	16	15759746	missense	probably damaging	0.98
R1226:Prkdc	UTSW	16	15673997	missense	possibly damaging	0.80
R1279:Prkdc	UTSW	16	15690282	missense	probably damaging	1.00
R1304:Prkdc	UTSW	16	15759723	missense	probably damaging	0.99
R1314:Prkdc	UTSW	16	15664227	missense	possibly damaging	0.68
R1351:Prkdc	UTSW	16	15667700	missense	possibly damaging	0.62
R1509:Prkdc	UTSW	16	15731566	missense	probably damaging	1.00
R1512:Prkdc	UTSW	16	15687404	missense	probably benign
R1531:Prkdc	UTSW	16	15772106	missense	probably benign	0.01
R1579:Prkdc	UTSW	16	15675328	missense	probably benign	0.00
R1669:Prkdc	UTSW	16	15734058	missense	probably damaging	1.00
R1682:Prkdc	UTSW	16	15676989	missense	probably benign	0.19
R1713:Prkdc	UTSW	16	15795094	missense	probably benign
R1762:Prkdc	UTSW	16	15637961	missense	probably benign
R1789:Prkdc	UTSW	16	15739524	missense	probably damaging	1.00
R1822:Prkdc	UTSW	16	15759605	missense	probably damaging	1.00
R1848:Prkdc	UTSW	16	15808058	missense	probably benign	0.01
R1887:Prkdc	UTSW	16	15829635	missense	probably benign	0.00
R1891:Prkdc	UTSW	16	15725436	missense	probably benign	0.02
R1921:Prkdc	UTSW	16	15714215	missense	possibly damaging	0.80
R1922:Prkdc	UTSW	16	15714266	missense	probably benign	0.00
R1929:Prkdc	UTSW	16	15654817	splice site	probably null
R1939:Prkdc	UTSW	16	15835913	missense	possibly damaging	0.95
R2021:Prkdc	UTSW	16	15677009	missense	probably benign	0.00
R2033:Prkdc	UTSW	16	15687352	splice site	probably benign
R2056:Prkdc	UTSW	16	15727605	missense	probably benign	0.03
R2057:Prkdc	UTSW	16	15727605	missense	probably benign	0.03
R2058:Prkdc	UTSW	16	15727605	missense	probably benign	0.03
R2082:Prkdc	UTSW	16	15715963	missense	probably damaging	1.00
R2109:Prkdc	UTSW	16	15687390	missense	probably benign	0.01
R2124:Prkdc	UTSW	16	15719433	missense	probably benign	0.00
R2164:Prkdc	UTSW	16	15705207	missense	probably damaging	1.00
R2174:Prkdc	UTSW	16	15734922	missense	probably benign	0.01
R2191:Prkdc	UTSW	16	15698824	missense	probably damaging	1.00
R2270:Prkdc	UTSW	16	15654817	splice site	probably null
R2271:Prkdc	UTSW	16	15654817	splice site	probably null
R2272:Prkdc	UTSW	16	15654817	splice site	probably null
R2356:Prkdc	UTSW	16	15684204	missense	probably benign
R2852:Prkdc	UTSW	16	15652552	critical splice donor site	probably null
R3115:Prkdc	UTSW	16	15664358	missense	probably benign	0.01
R3116:Prkdc	UTSW	16	15664358	missense	probably benign	0.01
R3499:Prkdc	UTSW	16	15768025	missense	probably damaging	0.98
R3687:Prkdc	UTSW	16	15799967	missense	probably benign
R3834:Prkdc	UTSW	16	15791946	missense	probably damaging	1.00
R3835:Prkdc	UTSW	16	15791946	missense	probably damaging	1.00
R3961:Prkdc	UTSW	16	15829611	splice site	probably null
R4151:Prkdc	UTSW	16	15816773	missense	probably benign
R4233:Prkdc	UTSW	16	15835919	missense	probably benign	0.11
R4281:Prkdc	UTSW	16	15806099	splice site	probably null
R4296:Prkdc	UTSW	16	15737905	missense	probably damaging	0.99
R4344:Prkdc	UTSW	16	15768022	missense	probably damaging	0.98
R4424:Prkdc	UTSW	16	15773739	missense	probably damaging	0.98
R4424:Prkdc	UTSW	16	15836082	missense	probably damaging	1.00
R4497:Prkdc	UTSW	16	15700653	missense	probably benign	0.43
R4549:Prkdc	UTSW	16	15736870	missense	possibly damaging	0.89
R4594:Prkdc	UTSW	16	15767966	missense	possibly damaging	0.64
R4603:Prkdc	UTSW	16	15810824	missense	probably damaging	0.98
R4615:Prkdc	UTSW	16	15663074	missense	probably damaging	0.99
R4648:Prkdc	UTSW	16	15816774	missense	probably benign	0.05
R4662:Prkdc	UTSW	16	15734052	missense	probably damaging	1.00
R4680:Prkdc	UTSW	16	15772030	missense	probably benign	0.00
R4700:Prkdc	UTSW	16	15702112	missense	probably damaging	1.00
R4716:Prkdc	UTSW	16	15810837	missense	probably benign	0.32
R4720:Prkdc	UTSW	16	15667715	missense	probably benign
R4785:Prkdc	UTSW	16	15648976	missense	probably benign	0.21
R4822:Prkdc	UTSW	16	15650712	missense	possibly damaging	0.80
R4829:Prkdc	UTSW	16	15702075	missense	possibly damaging	0.80
R4981:Prkdc	UTSW	16	15678309	missense	probably damaging	1.00
R4989:Prkdc	UTSW	16	15673997	missense	possibly damaging	0.80
R5059:Prkdc	UTSW	16	15838018	missense	probably damaging	1.00
R5074:Prkdc	UTSW	16	15772048	missense	probably damaging	1.00
R5115:Prkdc	UTSW	16	15790580	missense	probably benign
R5151:Prkdc	UTSW	16	15716035	missense	probably damaging	1.00
R5165:Prkdc	UTSW	16	15678272	missense	probably damaging	1.00
R5215:Prkdc	UTSW	16	15772121	missense	possibly damaging	0.64
R5270:Prkdc	UTSW	16	15734955	missense	probably damaging	1.00
R5278:Prkdc	UTSW	16	15714974	missense	probably damaging	1.00
R5351:Prkdc	UTSW	16	15831312	missense	probably benign	0.03
R5416:Prkdc	UTSW	16	15805950	missense	probably damaging	1.00
R5418:Prkdc	UTSW	16	15795097	missense	probably benign	0.20
R5437:Prkdc	UTSW	16	15769875	missense	possibly damaging	0.46
R5452:Prkdc	UTSW	16	15768637	missense	possibly damaging	0.96
R5518:Prkdc	UTSW	16	15678308	missense	probably damaging	1.00
R5538:Prkdc	UTSW	16	15651469	missense	probably damaging	1.00
R5589:Prkdc	UTSW	16	15706791	missense	probably benign	0.02
R5618:Prkdc	UTSW	16	15809612	missense	probably damaging	1.00
R5640:Prkdc	UTSW	16	15829769	missense	possibly damaging	0.86
R5661:Prkdc	UTSW	16	15810770	missense	possibly damaging	0.81
R5771:Prkdc	UTSW	16	15664233	missense	probably damaging	1.00
R5772:Prkdc	UTSW	16	15779388	missense	possibly damaging	0.49
R5783:Prkdc	UTSW	16	15717801	missense	probably damaging	1.00
R5792:Prkdc	UTSW	16	15816752	missense	probably damaging	1.00
R5797:Prkdc	UTSW	16	15737834	nonsense	probably null
R5826:Prkdc	UTSW	16	15734098	missense	probably benign
R5883:Prkdc	UTSW	16	15715914	missense	probably benign
R5895:Prkdc	UTSW	16	15752829	nonsense	probably null
R5998:Prkdc	UTSW	16	15783157	missense	probably damaging	1.00
R6000:Prkdc	UTSW	16	15829697	missense	possibly damaging	0.86
R6120:Prkdc	UTSW	16	15739471	missense	probably benign	0.00
R6145:Prkdc	UTSW	16	15772073	missense	probably damaging	1.00
R6209:Prkdc	UTSW	16	15790592	missense	probably damaging	1.00
R6293:Prkdc	UTSW	16	15787155	missense	probably benign	0.00
R6321:Prkdc	UTSW	16	15714919	missense	probably benign
R6376:Prkdc	UTSW	16	15769885	missense	probably benign	0.06
R6387:Prkdc	UTSW	16	15698815	missense	probably benign	0.01
R6406:Prkdc	UTSW	16	15717801	missense	probably damaging	1.00
R6469:Prkdc	UTSW	16	15795075	missense	probably benign	0.10
R6486:Prkdc	UTSW	16	15752764	missense	probably damaging	0.97
R6665:Prkdc	UTSW	16	15786050	critical splice donor site	probably null
R6703:Prkdc	UTSW	16	15670528	missense	probably benign	0.00
R6774:Prkdc	UTSW	16	15725461	critical splice donor site	probably null
R6854:Prkdc	UTSW	16	15651538	missense	probably damaging	1.00
R6878:Prkdc	UTSW	16	15777072	missense	probably benign	0.31
R6882:Prkdc	UTSW	16	15783263	critical splice donor site	probably null
R6882:Prkdc	UTSW	16	15808156	missense	probably benign	0.33
R6949:Prkdc	UTSW	16	15799989	missense	probably benign
R6950:Prkdc	UTSW	16	15815986	missense	probably damaging	1.00
R7019:Prkdc	UTSW	16	15769966	missense	probably benign	0.00
R7064:Prkdc	UTSW	16	15790453	missense	probably benign	0.00
R7097:Prkdc	UTSW	16	15689343	missense	probably damaging	1.00
R7201:Prkdc	UTSW	16	15698803	missense	probably benign	0.12
R7235:Prkdc	UTSW	16	15714263	missense	probably benign
R7283:Prkdc	UTSW	16	15717764	missense	probably benign	0.00
R7401:Prkdc	UTSW	16	15648738	missense	probably damaging	1.00
R7525:Prkdc	UTSW	16	15672327	missense	probably damaging	1.00
R7647:Prkdc	UTSW	16	15737943	missense	probably damaging	1.00
R7679:Prkdc	UTSW	16	15831319	missense	probably damaging	1.00
R7803:Prkdc	UTSW	16	15806096	missense	probably null	0.05
R7858:Prkdc	UTSW	16	15689277	missense	probably benign	0.11
R7872:Prkdc	UTSW	16	15715006	missense	probably benign	0.05
R7896:Prkdc	UTSW	16	15708903	missense	probably damaging	0.97
R8032:Prkdc	UTSW	16	15779451	missense	probably benign	0.00
R8055:Prkdc	UTSW	16	15816885	missense	probably benign	0.09
R8153:Prkdc	UTSW	16	15664244	missense	probably damaging	1.00
R8281:Prkdc	UTSW	16	15705253	missense	probably damaging	1.00
R8302:Prkdc	UTSW	16	15836082	missense	probably damaging	1.00
R8322:Prkdc	UTSW	16	15714141	splice site	probably benign
R8401:Prkdc	UTSW	16	15773613	missense	possibly damaging	0.93
R8440:Prkdc	UTSW	16	15835158	frame shift	probably null
R8458:Prkdc	UTSW	16	15790676	critical splice donor site	probably null
R8472:Prkdc	UTSW	16	15651536	missense	probably damaging	1.00
R8478:Prkdc	UTSW	16	15648924	missense	probably benign	0.00
R8515:Prkdc	UTSW	16	15664368	missense	probably damaging	1.00
R8546:Prkdc	UTSW	16	15663035	missense	probably damaging	1.00
R8678:Prkdc	UTSW	16	15708932	critical splice donor site	probably null
R8739:Prkdc	UTSW	16	15808204	missense	probably benign	0.01
R8749:Prkdc	UTSW	16	15783165	missense	possibly damaging	0.85
R8836:Prkdc	UTSW	16	15727659	missense	probably damaging	1.00
R8904:Prkdc	UTSW	16	15727726	missense	probably benign	0.04
R8952:Prkdc	UTSW	16	15673760	intron	probably benign
R8971:Prkdc	UTSW	16	15675365	missense	probably null	0.99
R8974:Prkdc	UTSW	16	15799862	splice site	probably null
R9052:Prkdc	UTSW	16	15690296	missense	probably benign	0.05
R9069:Prkdc	UTSW	16	15835227	nonsense	probably null
R9200:Prkdc	UTSW	16	15705289	missense	probably damaging	1.00
R9235:Prkdc	UTSW	16	15833887	missense	probably damaging	1.00
R9278:Prkdc	UTSW	16	15816659	critical splice donor site	probably null
R9309:Prkdc	UTSW	16	15708928	nonsense	probably null
R9386:Prkdc	UTSW	16	15678272	missense	probably damaging	0.99
R9452:Prkdc	UTSW	16	15667601	missense	possibly damaging	0.90
R9500:Prkdc	UTSW	16	15839215	missense	possibly damaging	0.76
R9608:Prkdc	UTSW	16	15730470	missense	possibly damaging	0.96
R9608:Prkdc	UTSW	16	15730471	missense	probably damaging	1.00
R9636:Prkdc	UTSW	16	15730477	missense	probably benign	0.19
R9656:Prkdc	UTSW	16	15799954	missense	probably benign	0.00
R9674:Prkdc	UTSW	16	15715955	missense	probably damaging	0.98
R9760:Prkdc	UTSW	16	15839180	nonsense	probably null
X0023:Prkdc	UTSW	16	15740278	missense	probably benign
Z1176:Prkdc	UTSW	16	15687422	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCTTCAAAGAGAGGTCCTCCTTTGT -3'
(R):5'- CCCACTTTAGAACTCAGCCAGGGTAG -3'

Sequencing Primer
(F):5'- ttcctctcctccttctccc -3'
(R):5'- GGTAGGAGATAAGCTCTCTCCC -3'

Posted On

2013-06-12