Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Pcnt'

17457

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76389196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1825 (P1825S)

Ref Sequence

ENSEMBL: ENSMUSP00000151534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001179] [ENSMUST00000217838]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001179
AA Change: P1825S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: P1825S

Domain	Start	End	E-Value	Type
internal_repeat_1	7	78	2.47e-5	PROSPERO
low complexity region	104	114	N/A	INTRINSIC
coiled coil region	131	229	N/A	INTRINSIC
internal_repeat_3	241	259	6.69e-5	PROSPERO
low complexity region	313	325	N/A	INTRINSIC
internal_repeat_3	391	409	6.69e-5	PROSPERO
low complexity region	456	467	N/A	INTRINSIC
coiled coil region	468	520	N/A	INTRINSIC
coiled coil region	554	581	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
coiled coil region	727	787	N/A	INTRINSIC
coiled coil region	871	916	N/A	INTRINSIC
low complexity region	931	942	N/A	INTRINSIC
low complexity region	969	985	N/A	INTRINSIC
coiled coil region	1055	1383	N/A	INTRINSIC
coiled coil region	1429	1481	N/A	INTRINSIC
coiled coil region	1529	1567	N/A	INTRINSIC
low complexity region	1614	1624	N/A	INTRINSIC
internal_repeat_2	1916	1964	2.47e-5	PROSPERO
coiled coil region	2158	2178	N/A	INTRINSIC
coiled coil region	2211	2279	N/A	INTRINSIC
coiled coil region	2300	2421	N/A	INTRINSIC
coiled coil region	2447	2526	N/A	INTRINSIC
Pfam:PACT_coil_coil	2718	2797	5.8e-29	PFAM
internal_repeat_1	2820	2885	2.47e-5	PROSPERO
internal_repeat_2	2844	2891	2.47e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190491

Predicted Effect

probably benign
Transcript: ENSMUST00000217838
AA Change: P1825S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1a	T	C	3: 95,065,442	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rdh10	T	A	1: 16,106,265	I83N	probably damaging	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Pcnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Pcnt	APN	10	76422904	nonsense	probably null
IGL01307:Pcnt	APN	10	76411588	missense	probably damaging	1.00
IGL01549:Pcnt	APN	10	76367486	splice site	probably null
IGL01576:Pcnt	APN	10	76368822	missense	probably damaging	0.99
IGL01611:Pcnt	APN	10	76436424	critical splice donor site	probably null
IGL01630:Pcnt	APN	10	76420246	missense	probably damaging	0.99
IGL01647:Pcnt	APN	10	76370001	nonsense	probably null
IGL01689:Pcnt	APN	10	76411653	missense	probably damaging	1.00
IGL01690:Pcnt	APN	10	76392775	missense	probably damaging	1.00
IGL01723:Pcnt	APN	10	76418499	missense	possibly damaging	0.63
IGL01920:Pcnt	APN	10	76404528	missense	probably damaging	1.00
IGL01958:Pcnt	APN	10	76433679	missense	probably damaging	0.96
IGL02210:Pcnt	APN	10	76389219	missense	possibly damaging	0.95
IGL02225:Pcnt	APN	10	76389474	missense	probably benign	0.00
IGL02228:Pcnt	APN	10	76389474	missense	probably benign	0.00
IGL02237:Pcnt	APN	10	76352984	missense	probably damaging	1.00
IGL02279:Pcnt	APN	10	76403765	missense	probably damaging	1.00
IGL02303:Pcnt	APN	10	76442559	splice site	probably benign
IGL02355:Pcnt	APN	10	76375162	nonsense	probably null
IGL02362:Pcnt	APN	10	76375162	nonsense	probably null
IGL02428:Pcnt	APN	10	76429256	missense	probably damaging	0.99
IGL02536:Pcnt	APN	10	76380229	missense	possibly damaging	0.68
IGL02715:Pcnt	APN	10	76368722	splice site	probably benign
IGL02800:Pcnt	APN	10	76412583	nonsense	probably null
IGL03395:Pcnt	APN	10	76436491	missense	possibly damaging	0.95
IGL02799:Pcnt	UTSW	10	76412583	nonsense	probably null
PIT4520001:Pcnt	UTSW	10	76420235	missense	probably damaging	0.99
R0049:Pcnt	UTSW	10	76369821	unclassified	probably benign
R0049:Pcnt	UTSW	10	76369821	unclassified	probably benign
R0117:Pcnt	UTSW	10	76408727	nonsense	probably null
R0254:Pcnt	UTSW	10	76392580	missense	probably benign	0.10
R0392:Pcnt	UTSW	10	76384826	missense	probably benign
R0511:Pcnt	UTSW	10	76404595	missense	possibly damaging	0.66
R0570:Pcnt	UTSW	10	76412107	missense	probably damaging	1.00
R0614:Pcnt	UTSW	10	76420316	missense	probably damaging	1.00
R0635:Pcnt	UTSW	10	76404585	missense	probably damaging	1.00
R0707:Pcnt	UTSW	10	76420541	missense	probably damaging	1.00
R0749:Pcnt	UTSW	10	76381364	missense	probably damaging	1.00
R0969:Pcnt	UTSW	10	76427951	missense	probably damaging	1.00
R1172:Pcnt	UTSW	10	76393044	splice site	probably null
R1174:Pcnt	UTSW	10	76393044	splice site	probably null
R1175:Pcnt	UTSW	10	76393044	splice site	probably null
R1512:Pcnt	UTSW	10	76404662	splice site	probably null
R1542:Pcnt	UTSW	10	76389387	missense	probably benign	0.08
R1542:Pcnt	UTSW	10	76401386	missense	probably benign	0.02
R1558:Pcnt	UTSW	10	76422922	missense	possibly damaging	0.53
R1562:Pcnt	UTSW	10	76367330	missense	probably benign	0.02
R1762:Pcnt	UTSW	10	76355137	critical splice acceptor site	probably null
R1779:Pcnt	UTSW	10	76408796	missense	probably damaging	0.99
R1869:Pcnt	UTSW	10	76379906	missense	probably null	0.94
R1911:Pcnt	UTSW	10	76368816	missense	possibly damaging	0.94
R1985:Pcnt	UTSW	10	76380337	missense	possibly damaging	0.95
R1995:Pcnt	UTSW	10	76392799	nonsense	probably null
R2073:Pcnt	UTSW	10	76380380	missense	possibly damaging	0.92
R2111:Pcnt	UTSW	10	76420526	missense	probably damaging	0.99
R2112:Pcnt	UTSW	10	76420526	missense	probably damaging	0.99
R2309:Pcnt	UTSW	10	76442626	start gained	probably benign
R2902:Pcnt	UTSW	10	76375230	missense	probably damaging	0.98
R3623:Pcnt	UTSW	10	76433750	missense	probably benign	0.23
R4088:Pcnt	UTSW	10	76428014	missense	probably damaging	1.00
R4300:Pcnt	UTSW	10	76367391	missense	probably benign	0.40
R4402:Pcnt	UTSW	10	76392393	missense	probably benign	0.00
R4407:Pcnt	UTSW	10	76374870	missense	possibly damaging	0.90
R4483:Pcnt	UTSW	10	76401483	missense	probably damaging	1.00
R4647:Pcnt	UTSW	10	76354213	missense	probably benign	0.01
R4734:Pcnt	UTSW	10	76437206	missense	probably benign	0.25
R4747:Pcnt	UTSW	10	76436465	missense	possibly damaging	0.91
R4782:Pcnt	UTSW	10	76409577	missense	possibly damaging	0.62
R4795:Pcnt	UTSW	10	76370024	missense	probably benign	0.21
R4831:Pcnt	UTSW	10	76412501	missense	probably damaging	0.96
R4873:Pcnt	UTSW	10	76369854	missense	probably benign	0.03
R4875:Pcnt	UTSW	10	76369854	missense	probably benign	0.03
R4946:Pcnt	UTSW	10	76356185	missense	probably damaging	1.00
R5032:Pcnt	UTSW	10	76355077	missense	probably benign	0.00
R5033:Pcnt	UTSW	10	76399945	missense	possibly damaging	0.95
R5106:Pcnt	UTSW	10	76401444	missense	probably damaging	1.00
R5118:Pcnt	UTSW	10	76412168	missense	probably damaging	0.98
R5167:Pcnt	UTSW	10	76420424	missense	probably damaging	0.97
R5199:Pcnt	UTSW	10	76418544	missense	probably benign	0.09
R5223:Pcnt	UTSW	10	76380272	missense	probably damaging	0.99
R5241:Pcnt	UTSW	10	76433617	missense	probably benign	0.26
R5308:Pcnt	UTSW	10	76356325	nonsense	probably null
R5328:Pcnt	UTSW	10	76411719	missense	probably damaging	1.00
R5454:Pcnt	UTSW	10	76389547	splice site	probably null
R5543:Pcnt	UTSW	10	76412052	missense	probably benign	0.01
R5588:Pcnt	UTSW	10	76442611	missense	possibly damaging	0.74
R5647:Pcnt	UTSW	10	76385841	missense	probably benign	0.17
R5668:Pcnt	UTSW	10	76409500	missense	probably benign	0.16
R5712:Pcnt	UTSW	10	76429271	missense	probably damaging	0.96
R5714:Pcnt	UTSW	10	76420491	missense	probably damaging	1.00
R5797:Pcnt	UTSW	10	76392756	missense	probably benign	0.00
R5946:Pcnt	UTSW	10	76382063	missense	possibly damaging	0.91
R5955:Pcnt	UTSW	10	76411622	missense	possibly damaging	0.45
R6024:Pcnt	UTSW	10	76420037	missense	possibly damaging	0.87
R6267:Pcnt	UTSW	10	76385798	missense	probably benign	0.02
R6485:Pcnt	UTSW	10	76389330	nonsense	probably null
R6605:Pcnt	UTSW	10	76429198	critical splice donor site	probably null
R6877:Pcnt	UTSW	10	76434017	missense	possibly damaging	0.94
R6882:Pcnt	UTSW	10	76427828	missense	probably benign	0.00
R6919:Pcnt	UTSW	10	76385798	missense	probably benign	0.02
R7025:Pcnt	UTSW	10	76403835	missense	probably damaging	1.00
R7098:Pcnt	UTSW	10	76384839	missense	probably benign
R7109:Pcnt	UTSW	10	76369904	missense	probably damaging	1.00
R7121:Pcnt	UTSW	10	76427927	missense	possibly damaging	0.73
R7143:Pcnt	UTSW	10	76389060	missense	possibly damaging	0.47
R7152:Pcnt	UTSW	10	76411360	splice site	probably null
R7213:Pcnt	UTSW	10	76408904	missense	probably damaging	1.00
R7368:Pcnt	UTSW	10	76400001	missense	probably benign
R7453:Pcnt	UTSW	10	76389450	missense	probably benign
R7486:Pcnt	UTSW	10	76418436	missense	probably benign	0.03
R7486:Pcnt	UTSW	10	76418437	missense	probably benign
R7538:Pcnt	UTSW	10	76399939	missense	probably benign
R7575:Pcnt	UTSW	10	76389252	missense	probably benign	0.32
R7662:Pcnt	UTSW	10	76387522	missense	probably benign	0.27
R7685:Pcnt	UTSW	10	76422808	missense	probably benign	0.14
R7764:Pcnt	UTSW	10	76354248	missense	probably benign	0.33
R7802:Pcnt	UTSW	10	76375303	splice site	probably null
R8432:Pcnt	UTSW	10	76420205	missense	probably damaging	1.00
R8439:Pcnt	UTSW	10	76420205	missense	probably damaging	1.00
R8493:Pcnt	UTSW	10	76403623	critical splice donor site	probably null
R8530:Pcnt	UTSW	10	76420205	missense	probably damaging	1.00
R8535:Pcnt	UTSW	10	76420205	missense	probably damaging	1.00
R8830:Pcnt	UTSW	10	76382174	missense	probably benign	0.03
R8878:Pcnt	UTSW	10	76408841	missense	probably damaging	1.00
R8911:Pcnt	UTSW	10	76387525	missense	probably damaging	0.98
R8988:Pcnt	UTSW	10	76409573	nonsense	probably null
R9084:Pcnt	UTSW	10	76399992	missense	probably benign	0.09
R9169:Pcnt	UTSW	10	76385738	missense	possibly damaging	0.95
R9372:Pcnt	UTSW	10	76423126	missense	probably damaging	1.00
R9411:Pcnt	UTSW	10	76423062	missense	probably damaging	0.96
R9448:Pcnt	UTSW	10	76420526	missense	probably damaging	0.99
R9459:Pcnt	UTSW	10	76392738	missense	probably damaging	1.00
R9479:Pcnt	UTSW	10	76382129	missense	probably benign	0.00
R9503:Pcnt	UTSW	10	76428048	missense	possibly damaging	0.59
R9561:Pcnt	UTSW	10	76381294	nonsense	probably null
R9618:Pcnt	UTSW	10	76352960	missense	probably damaging	1.00
R9648:Pcnt	UTSW	10	76354255	missense	probably benign	0.32
R9733:Pcnt	UTSW	10	76401480	missense	probably benign	0.01
Z1176:Pcnt	UTSW	10	76382157	nonsense	probably null
Z1177:Pcnt	UTSW	10	76399968	missense	probably benign	0.00

Posted On

2013-01-31