Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:Pcnt'

383428

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

042543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76356185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 2764 (R2764Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151534 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000001179
AA Change: R2782Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: R2782Q

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

probably damaging
Transcript: ENSMUST00000217838
AA Change: R2764Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219011

Predicted Effect

unknown
Transcript: ENSMUST00000219243
AA Change: E150K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,086,474	D98G	probably damaging	Het
Adgre1	G	A	17: 57,443,918	V531I	probably benign	Het
Aldoart2	A	G	12: 55,566,016	Q242R	probably benign	Het
Ank2	A	T	3: 126,941,940		probably benign	Het
Ank3	C	T	10: 69,898,117	A737V	probably damaging	Het
Ankle2	A	G	5: 110,253,838	I789V	probably benign	Het
Ankrd13c	T	C	3: 158,005,773	V510A	probably damaging	Het
Arid1b	T	A	17: 5,342,843	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,925,848	V380A	probably benign	Het
B3galt1	C	A	2: 68,118,569	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,996,905	C224S	probably benign	Het
Cdk4	T	C	10: 127,064,890		probably null	Het
Cdk5rap1	T	C	2: 154,368,874	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831	R92*	probably null	Het
Cnga1	A	G	5: 72,604,764	V469A	probably damaging	Het
Ctns	A	G	11: 73,196,653	F16L	probably benign	Het
Dlg5	A	T	14: 24,154,361	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,931,560	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,557	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,387,904	V3170M	probably damaging	Het
Dpp8	T	C	9: 65,055,918	Y485H	probably benign	Het
Dsc2	T	C	18: 20,050,157	D68G	probably damaging	Het
Elavl1	A	T	8: 4,301,752	D121E	probably benign	Het
Ermap	A	G	4: 119,183,308	V311A	probably damaging	Het
Fam102b	A	G	3: 108,980,228	V240A	probably benign	Het
Fbxw11	C	T	11: 32,739,226	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,413,772	M495V	probably benign	Het
Hacd1	C	T	2: 14,045,137		probably null	Het
Itgav	A	G	2: 83,788,983	R596G	probably benign	Het
Kars	T	C	8: 112,001,720	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,177,794	R1494H	probably damaging	Het
Klf12	G	A	14: 100,022,957	S112L	possibly damaging	Het
Krt77	T	C	15: 101,869,563	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,630,489	T487A	probably benign	Het
Lrrn1	A	G	6: 107,568,890	M550V	probably benign	Het
Lsr	C	A	7: 30,958,209	R442L	probably benign	Het
Lysmd2	A	C	9: 75,635,446	T112P	probably damaging	Het
Mctp2	A	T	7: 72,259,269	S99T	probably benign	Het
Mettl4	A	G	17: 94,740,532	V227A	probably benign	Het
Mill2	T	A	7: 18,856,683		probably null	Het
Mpp3	T	C	11: 102,005,022	N476D	probably benign	Het
Mtmr6	C	T	14: 60,280,189	P83L	possibly damaging	Het
Myh3	T	C	11: 67,093,538	I1067T	probably benign	Het
Myh9	C	A	15: 77,773,340	Q1068H	probably damaging	Het
Narf	T	A	11: 121,250,353	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 126,396,612	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,065,835	P426Q	probably damaging	Het
Olfr1289	T	C	2: 111,483,966	Y207H	possibly damaging	Het
Olfr1508	G	A	14: 52,463,283	T242I	probably damaging	Het
Olfr432	T	G	1: 174,050,834	S154A	possibly damaging	Het
Olfr467	A	G	7: 107,815,382	H266R	possibly damaging	Het
Olfr640	T	A	7: 104,022,012	Q102L	probably damaging	Het
Pcdh10	A	T	3: 45,379,482	E77V	probably damaging	Het
Pgbd5	T	C	8: 124,370,585	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,157,262	T142N	probably benign	Het
Plcb1	A	G	2: 135,345,095	I761V	probably benign	Het
Plekhg4	T	G	8: 105,381,996	D1196E	probably null	Het
Pparg	A	G	6: 115,451,028	K159E	probably damaging	Het
Psmb1	A	T	17: 15,498,216	M16K	probably benign	Het
Ptprq	T	C	10: 107,525,734	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,440,967	S239T	probably damaging	Het
Serpina11	A	G	12: 103,984,664	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,804,113		probably benign	Het
Smim18	T	C	8: 33,742,559	T11A	possibly damaging	Het
Snx6	G	A	12: 54,770,743	T7I	probably damaging	Het
Srcin1	T	A	11: 97,551,942	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174	S223T	probably damaging	Het
Taf4b	G	T	18: 14,813,542	C474F	probably damaging	Het
Tango6	T	A	8: 106,718,090	C542*	probably null	Het
Tbc1d24	A	G	17: 24,208,536	S151P	possibly damaging	Het
Tssk6	T	C	8: 69,903,064	S253P	probably benign	Het
Ttc39c	G	A	18: 12,724,942	W300*	probably null	Het
Ttc6	T	A	12: 57,643,140	W539R	probably benign	Het
Ttn	T	C	2: 76,752,426	T22708A	probably damaging	Het
Ttn	C	A	2: 76,918,709	E3999*	probably null	Het
Vill	T	G	9: 119,068,440	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,432,174	S162P	probably damaging	Het
Zfp516	T	C	18: 82,956,094	I139T	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
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
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'- ATGGCTTTCCTGGCAAATGG -3'
(R):5'- GCTGTACCTGCACTATCTGAG -3'

Sequencing Primer
(F):5'- CCAGGGACAGCATGAATCTGTTTC -3'
(R):5'- AAACGCTCTCCATGATCG -3'

Posted On

2016-04-27