Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00666:Prkdc'

13164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkdc

Ensembl Gene

ENSMUSG00000022672

Gene Name

protein kinase, DNA activated, catalytic polypeptide

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL00666

Quality Score

Status

Chromosome

Chromosomal Location

15637866-15842235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15736835 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 2140 (R2140H)

Ref Sequence

ENSEMBL: ENSMUSP00000023352 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023352
AA Change: R2140H

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

SMART Domains

Protein: ENSMUSP00000023352
Gene: ENSMUSG00000022672
AA Change: R2140H

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

Coding Region Coverage

Validation Efficiency

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd11	T	C	10: 85,629,216	V640A	possibly damaging	Het
Csmd1	G	T	8: 16,189,990	T1136K	probably damaging	Het
Heatr1	T	A	13: 12,410,450	S590R	probably benign	Het
Knl1	T	A	2: 119,070,464	I882K	probably damaging	Het
M1ap	T	G	6: 82,956,665	Y67D	probably damaging	Het
Ralgapa2	T	C	2: 146,485,136	S68G	possibly damaging	Het
Robo2	T	A	16: 73,961,700	T732S	probably benign	Het
Tmem161b	A	G	13: 84,294,596		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
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
Bushtit	UTSW	16	15752764	missense	probably damaging	0.97
clover	UTSW	16	15702157	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
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
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
R0538:Prkdc	UTSW	16	15833788	missense	probably damaging	1.00
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
X0023:Prkdc	UTSW	16	15740278	missense	probably benign
Z1176:Prkdc	UTSW	16	15687422	nonsense	probably null

Posted On

2012-12-06