Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Pcnt'

366628

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4782 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76409577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1075 (R1075S)

Ref Sequence

ENSEMBL: ENSMUSP00000001179 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001179
AA Change: R1075S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: R1075S

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

possibly damaging
Transcript: ENSMUST00000217838
AA Change: R1075S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,096	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,169,064	S170C	probably damaging	Het
Abtb2	A	T	2: 103,717,299	D1006V	probably benign	Het
Adgrl1	A	G	8: 83,935,573	H1021R	probably benign	Het
Ago3	A	T	4: 126,347,872		probably null	Het
Ahnak	A	G	19: 9,012,499		probably benign	Het
Akap6	CA	C	12: 52,887,623		probably null	Het
Amotl2	T	G	9: 102,720,123		probably null	Het
Ankrd34b	T	A	13: 92,438,305	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,721,586		probably null	Het
Appl2	A	T	10: 83,600,991	D635E	probably damaging	Het
Arid1b	C	T	17: 5,339,221	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,791,095	M496T	probably benign	Het
Atp2c2	A	G	8: 119,749,152	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,404,412	H204R	probably damaging	Het
Atr	G	A	9: 95,862,797	V56I	probably benign	Het
Bod1l	G	A	5: 41,833,663	T183I	probably benign	Het
Btbd11	A	C	10: 85,654,550	I1027L	probably damaging	Het
Ccdc171	A	T	4: 83,681,016	E689D	probably damaging	Het
Cdc73	T	A	1: 143,627,875	Q346L	probably benign	Het
Chd2	A	T	7: 73,484,436	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,801,925	T981S	unknown	Het
Col4a3bp	T	C	13: 96,612,265	V281A	probably benign	Het
Cpox	G	A	16: 58,672,623	A207T	probably damaging	Het
Cym	G	A	3: 107,216,097	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 24,878,040	I664T	probably damaging	Het
Ddx4	C	T	13: 112,613,696		probably null	Het
Ddx4	A	T	13: 112,651,360	V15E	probably benign	Het
Depdc1a	G	A	3: 159,526,636	E675K	probably damaging	Het
Dglucy	A	T	12: 100,850,343	M415L	probably benign	Het
Dlg4	C	T	11: 70,026,954	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,862,992	N395I	probably damaging	Het
Dzank1	A	T	2: 144,504,399	C249S	probably damaging	Het
Efnb2	A	T	8: 8,623,104		probably null	Het
Ercc6l2	T	G	13: 63,834,738	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,070,423	M584K	unknown	Het
Fam193b	A	G	13: 55,543,471	S197P	probably damaging	Het
Fanca	A	G	8: 123,288,202	V689A	probably damaging	Het
Fbxo31	A	T	8: 121,552,439	Y436*	probably null	Het
Fbxo31	A	G	8: 121,552,441	Y436H	probably damaging	Het
Fcna	T	A	2: 25,625,326	D215V	probably damaging	Het
Foxj3	A	T	4: 119,621,660	S438C	unknown	Het
Gcm2	T	C	13: 41,103,494	K260E	possibly damaging	Het
Gcnt4	A	T	13: 96,947,406	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,931,913	T126A	probably benign	Het
Ggcx	A	G	6: 72,428,892	K569E	probably benign	Het
Gm10250	C	T	15: 5,121,096		probably benign	Het
Gm8251	T	C	1: 44,059,043	D965G	possibly damaging	Het
Gpnmb	G	T	6: 49,045,483		probably null	Het
Ifi44	G	A	3: 151,745,592	P241S	probably damaging	Het
Irs1	T	C	1: 82,287,463	T1011A	probably benign	Het
Jag2	A	T	12: 112,914,249	S595T	probably benign	Het
Kif5a	T	A	10: 127,230,954	Q960L	probably benign	Het
Kifc2	A	G	15: 76,664,348	E430G	possibly damaging	Het
Lama3	T	A	18: 12,411,570	C323*	probably null	Het
Lgsn	T	C	1: 31,203,742	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,744,975		probably null	Het
Lrpap1	A	G	5: 35,099,278	V120A	probably damaging	Het
Macrod2	T	A	2: 140,419,938	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,845,322	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,634,949		probably benign	Het
Mib2	G	T	4: 155,659,772	S144R	probably benign	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Ndufs1	C	A	1: 63,160,949	G268V	probably damaging	Het
Nfs1	A	G	2: 156,134,449	V175A	possibly damaging	Het
Ngb	G	A	12: 87,100,225	H73Y	probably benign	Het
Npepps	G	A	11: 97,226,826	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,550,499	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,036,326	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,001,892		probably null	Het
Olfr1388	T	A	11: 49,443,869	F6Y	probably benign	Het
Olfr262	C	T	19: 12,241,572	V30I	probably benign	Het
Olfr372	A	G	8: 72,058,094	N138S	probably benign	Het
Olfr391-ps	C	T	11: 73,798,839	C306Y	probably benign	Het
Olfr555	T	A	7: 102,658,834	N4K	possibly damaging	Het
Olfr910	A	G	9: 38,539,075	Y60C	probably damaging	Het
Parp6	A	G	9: 59,634,984		probably null	Het
Pla2g4f	T	C	2: 120,303,276	E548G	probably damaging	Het
Polrmt	G	T	10: 79,739,523	H725N	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Prtn3	C	A	10: 79,882,065	P169H	probably damaging	Het
Ptprd	A	G	4: 76,091,532	I764T	probably benign	Het
Ptprh	A	T	7: 4,569,577	H467Q	probably benign	Het
Raph1	A	T	1: 60,489,114	I996N	probably damaging	Het
Rasa4	G	A	5: 136,091,229	W53*	probably null	Het
Rasgrp1	C	T	2: 117,284,875	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,413,349	E141G	probably damaging	Het
Rps12	T	C	10: 23,786,790	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,622,910	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,977,466	H246R	possibly damaging	Het
Setx	G	A	2: 29,144,046	R332Q	probably damaging	Het
Siglec1	A	C	2: 131,075,923	S1011R	probably damaging	Het
Sin3b	A	C	8: 72,725,643	I126L	probably benign	Het
Slc11a1	T	G	1: 74,384,088	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,161,079	R177*	probably null	Het
Slc30a1	A	C	1: 191,909,048	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,248,807	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,934,925		probably null	Het
Sltm	A	G	9: 70,589,057	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,362,756	I91M	probably damaging	Het
Spta1	A	T	1: 174,230,666	Q1900L	probably benign	Het
Srgn	C	T	10: 62,497,852	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,376,450	C238G	probably damaging	Het
Terf2	G	T	8: 107,076,675	H425Q	probably benign	Het
Thra	G	A	11: 98,756,164	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845	D246G	probably damaging	Het
Ubap2l	G	A	3: 90,020,903	T553M	probably damaging	Het
Usp10	A	G	8: 119,941,191	Y77C	probably benign	Het
Utrn	T	C	10: 12,750,069	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,556,697	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,221,504	I68V	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Wsb1	A	G	11: 79,240,373	M399T	probably benign	Het
Xbp1	C	T	11: 5,521,167	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,391,136	D577E	probably benign	Het
Zfp366	A	G	13: 99,246,483	D718G	probably damaging	Het
Zfp408	A	T	2: 91,645,024	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,786,203	W60R	probably null	Het
Zfp606	A	T	7: 12,494,005	K626N	probably damaging	Het
Zfp820	A	T	17: 21,818,985	L454Q	probably benign	Het
Zswim5	A	G	4: 116,972,972	I515V	probably benign	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
R0109:Pcnt	UTSW	10	76389196	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTAAAGACCCTGCTTTTCAC -3'
(R):5'- TGACTCAGATATTAACAAGTTCCCCAC -3'

Sequencing Primer
(F):5'- CAGCAGGAAGGTCATATCTGCTC -3'
(R):5'- TATTAACAAGTTCCCCACCCCCAC -3'

Posted On

2015-12-29