Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Pcnt'

357203

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

042029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4747 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76436465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 186 (E186K)

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: E186K

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: E186K

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: E186K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,326,894	E479D	probably damaging	Het
4933402D24Rik	A	G	1: 63,756,409		probably benign	Het
Acadvl	G	T	11: 70,012,508	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,507,440	N372K	probably benign	Het
Adh1	G	A	3: 138,288,881	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,527,757	N730K	probably benign	Het
Aoc2	A	T	11: 101,328,820		probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Ccdc7b	T	C	8: 129,178,235	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,856,141	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,718,923		probably null	Het
Cnot1	T	C	8: 95,774,682	N86S	probably benign	Het
Comp	T	C	8: 70,376,702	C310R	probably damaging	Het
Crtc2	A	T	3: 90,260,211	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,313,102	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,226,053	R225*	probably null	Het
Dao	A	T	5: 114,012,632	D99V	probably benign	Het
Dgkd	A	G	1: 87,934,167	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,653,118	T247A	probably benign	Het
Dnah7c	G	C	1: 46,533,168	D934H	probably damaging	Het
Dnajc15	T	C	14: 77,844,456	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,989,504	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,094,558	K541R	probably damaging	Het
Elp4	G	A	2: 105,794,607	R196C	probably damaging	Het
Epha8	GC	G	4: 136,938,695		probably null	Het
Ercc6	T	C	14: 32,569,907	V1076A	probably benign	Het
Fgd4	T	C	16: 16,423,929	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,428,965	C1028F	probably damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,447,914		probably null	Het
Garem1	C	A	18: 21,129,943	V605L	probably benign	Het
Gbp7	A	T	3: 142,543,017	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,961,633	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,859,596	H532Q	probably damaging	Het
Gm4788	A	T	1: 139,698,184	C792S	probably damaging	Het
Herc2	A	G	7: 56,106,393	E727G	possibly damaging	Het
Hfm1	G	A	5: 106,917,523	H97Y	probably benign	Het
Idua	G	T	5: 108,681,036	R335L	probably damaging	Het
Ifi207	A	G	1: 173,729,067	S702P	probably benign	Het
Kif16b	A	T	2: 142,857,426	V78D	probably damaging	Het
Klra17	T	A	6: 129,872,269	D114V	probably damaging	Het
Krt76	A	G	15: 101,885,745	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,579,976	D153G	probably damaging	Het
Med21	T	A	6: 146,649,202	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,185,499	M739K	probably benign	Het
Myo1a	A	G	10: 127,714,438	E549G	probably damaging	Het
Narfl	A	T	17: 25,780,353	Y247F	probably benign	Het
Neu1	A	G	17: 34,934,383	D294G	possibly damaging	Het
Nmur2	A	T	11: 56,040,279	I202K	probably benign	Het
Nop2	T	A	6: 125,137,094	D174E	probably benign	Het
Ogfr	A	T	2: 180,594,423	H267L	probably damaging	Het
Olfr1031	A	G	2: 85,991,927	T37A	probably damaging	Het
Olfr796	G	T	10: 129,608,184	A99E	possibly damaging	Het
P2ry13	T	A	3: 59,209,887	I157F	probably benign	Het
Pank4	T	C	4: 154,979,532	V660A	probably damaging	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,444,815	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,676,746	Q751K	probably benign	Het
Pecam1	A	T	11: 106,684,246	F613I	probably benign	Het
Pias2	T	C	18: 77,152,792	*615Q	probably null	Het
Plb1	A	T	5: 32,349,659	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,156,199	L506P	probably damaging	Het
Qrfp	T	C	2: 31,808,840	T27A	probably damaging	Het
Relb	C	A	7: 19,627,922		probably null	Het
Rgl1	G	T	1: 152,524,699	C685*	probably null	Het
Ric8b	A	G	10: 84,917,764	Y8C	probably benign	Het
Rrp36	G	A	17: 46,669,967	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504	Q586*	probably null	Het
Sbf1	C	T	15: 89,302,713	D821N	probably damaging	Het
Sept8	G	C	11: 53,536,718	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,839	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,772,136	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,645,956	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,223,161	I373T	probably benign	Het
Sptbn2	T	A	19: 4,748,154	M1969K	probably benign	Het
St14	G	A	9: 31,103,757	T315M	possibly damaging	Het
Tagap	G	A	17: 7,932,198	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,826,169	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,904,187	D182G	probably damaging	Het
Tinag	A	G	9: 76,996,956	V395A	probably benign	Het
Tmc8	A	G	11: 117,792,724	S702G	probably benign	Het
Tmem202	A	G	9: 59,519,194	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,255,752	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,527,757	S647C	probably damaging	Het
Tram1	A	T	1: 13,589,646	I26N	probably damaging	Het
Ttc6	A	T	12: 57,674,692	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,145,546	T334A	possibly damaging	Het
Ttn	A	T	2: 76,919,742	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,821,082	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 64,081,846	I69V	probably benign	Het
Zfp180	A	T	7: 24,105,821	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403	N185S	probably benign	Het
Zfp445	C	T	9: 122,857,150	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476	E1814G	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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGAAAATCAGCAGGCTGC -3'
(R):5'- TGAGCCTGAACAACATGCAC -3'

Sequencing Primer
(F):5'- CAGGCTGCTTCAAGTTGTGC -3'
(R):5'- TGAACAACATGCACACAGC -3'

Posted On

2015-11-11