Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Pcnt'

391768

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76355077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2791 (P2791S)

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: P2809S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: P2809S

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 benign
Transcript: ENSMUST00000217838
AA Change: P2791S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219011

Predicted Effect

probably benign
Transcript: ENSMUST00000219243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Actl9	A	G	17: 33,434,088	N374S	probably benign	Het
Ahcyl2	T	A	6: 29,768,556		probably benign	Het
Arfgef2	T	C	2: 166,878,544	M1501T	probably benign	Het
Asb17	A	T	3: 153,844,538	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,263,450	Y877C	probably damaging	Het
Atrip	T	C	9: 109,065,203	Q64R	probably benign	Het
Auts2	A	G	5: 131,476,891		probably benign	Het
Cacna2d1	G	T	5: 16,359,070	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,573,636	R596C	probably damaging	Het
Cd163	A	G	6: 124,311,669	Y353C	probably damaging	Het
Cdon	T	C	9: 35,489,034	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,179,471	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,066,519	W190R	probably benign	Het
Ddx1	A	T	12: 13,223,992	I570N	probably damaging	Het
Duox1	G	A	2: 122,337,317	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,626,892	Q1198*	probably null	Het
Ecel1	G	A	1: 87,154,253	S246L	probably damaging	Het
Fam228b	T	G	12: 4,763,042	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245		probably benign	Het
Gm5346	T	C	8: 43,626,471	N239D	probably damaging	Het
Gm5592	A	G	7: 41,289,735	R814G	probably damaging	Het
Gmps	A	G	3: 63,990,325	K233E	probably benign	Het
Gramd1c	A	G	16: 43,990,663	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,802,033	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,783,181	I226V	probably benign	Het
Hc	T	C	2: 35,013,532	I1037V	probably benign	Het
Hspa4	T	G	11: 53,289,123	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,102,726	S508P	probably damaging	Het
Krt7	G	A	15: 101,412,547	R25H	probably benign	Het
Lhfp	T	A	3: 53,043,433	S43T	possibly damaging	Het
Lrrc7	T	A	3: 158,181,580	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,866,815	L28Q	probably damaging	Het
Mdc1	A	G	17: 35,850,589	E798G	probably benign	Het
Mta1	T	A	12: 113,133,525		probably null	Het
Mtg2	A	T	2: 180,083,390	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,206,048	E382*	probably null	Het
Myo3a	T	C	2: 22,282,602	L175P	probably damaging	Het
Nckap5	A	T	1: 125,977,049	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,389,055		probably null	Het
Nmt2	C	T	2: 3,284,392	P5L	probably benign	Het
Nsmf	T	C	2: 25,055,061		probably null	Het
Olfr635	A	T	7: 103,979,374	M61L	probably damaging	Het
Olfr76	T	A	19: 12,120,056	I219F	probably benign	Het
Oprl1	C	T	2: 181,719,002	R257C	probably damaging	Het
Pcdhgc3	T	A	18: 37,807,585	N346K	probably damaging	Het
Pdia3	A	G	2: 121,414,139	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,896,202	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,333,520	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,281,695	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,307,265	S845P	probably damaging	Het
Prdm2	A	T	4: 143,179,367	L50*	probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,003,141	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,937,367	N139K	probably damaging	Het
Rcn2	T	A	9: 56,053,016	M189K	probably damaging	Het
Rev1	A	T	1: 38,074,489		probably benign	Het
Rhbg	C	A	3: 88,245,134	G368C	probably damaging	Het
Rnf214	A	G	9: 45,899,744		probably null	Het
Sf3a3	T	C	4: 124,725,166	S307P	probably benign	Het
Slc6a18	T	A	13: 73,666,323	Y494F	probably damaging	Het
Son	T	C	16: 91,657,664	S1100P	probably damaging	Het
Spag16	T	G	1: 69,853,352	N97K	probably benign	Het
Tmem192	T	C	8: 64,959,511	V114A	possibly damaging	Het
Urb1	G	T	16: 90,756,171	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,600,709	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,308,851	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,525,670	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,670,016	V232E	probably 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
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
R4946:Pcnt	UTSW	10	76356185	missense	probably damaging	1.00
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'- ACTGAGGCTAAAGCAAGCAC -3'
(R):5'- ACAGCTAGTTGGCAGCTTG -3'

Sequencing Primer
(F):5'- CGGCACAAAGGAGAGCTCTC -3'
(R):5'- AGCTTGTTGGTGGACCCAC -3'

Posted On

2016-06-06