Mutagenetix > Incidental Mutations

Incidental Mutation 'R4407:Pcnt'

327718

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

041689-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4407 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76374870 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2473 (E2473G)

Ref Sequence

ENSEMBL: ENSMUSP00000151534 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001179
AA Change: E2491G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: E2491G

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: E2473G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,532,055		noncoding transcript	Het
Bbs10	A	G	10: 111,299,859	T278A	probably benign	Het
BC053393	A	G	11: 46,577,380	T94A	probably damaging	Het
Bcl6b	A	G	11: 70,226,103	L450P	probably damaging	Het
Braf	T	G	6: 39,615,720	K674Q	probably damaging	Het
Cep112	C	T	11: 108,519,201	T481I	possibly damaging	Het
Cep135	T	A	5: 76,624,667	M633K	probably benign	Het
Cpped1	T	C	16: 11,805,421	Y278C	probably damaging	Het
Depdc5	T	A	5: 32,904,534		probably null	Het
Dolpp1	C	T	2: 30,396,452	A128V	possibly damaging	Het
E2f5	T	A	3: 14,603,763	D238E	probably benign	Het
Fat4	A	T	3: 38,958,540	D2328V	probably benign	Het
Fbln1	T	A	15: 85,231,556		probably null	Het
Fkbp3	T	C	12: 65,070,004	T53A	probably damaging	Het
Flg2	G	T	3: 93,214,869	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Glyctk	A	T	9: 106,157,108		probably benign	Het
Gm37596	C	A	3: 93,692,112	V317L	probably benign	Het
Gm6430	T	C	1: 97,025,572		noncoding transcript	Het
Golga1	C	A	2: 39,019,641		probably null	Het
Gucy2g	A	T	19: 55,237,837	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,313,884	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,212,128		probably benign	Het
Lemd3	A	T	10: 120,925,430	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,502,517	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,505,402	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,287,228	D665E	probably damaging	Het
Myof	A	G	19: 37,922,978	S1502P	probably damaging	Het
Olfr1178	A	T	2: 88,392,083	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,144,446	V160L	probably benign	Het
Pitpnm2	T	A	5: 124,152,615	I3L	possibly damaging	Het
Prkd3	C	A	17: 78,983,558	W176L	probably damaging	Het
Prpf39	C	T	12: 65,056,266	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,147,399	F655I	probably damaging	Het
Rrp12	T	C	19: 41,892,551	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,574,718	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,514,764	S115T	probably damaging	Het
Spg11	A	C	2: 122,075,332	D1277E	probably benign	Het
Sspo	A	G	6: 48,460,520	D1279G	probably damaging	Het
St18	T	C	1: 6,827,837	I621T	probably benign	Het
Tbc1d31	T	A	15: 57,920,042	D112E	possibly damaging	Het
Tgm4	A	T	9: 123,056,530	D379V	probably damaging	Het
Thyn1	A	T	9: 27,003,597	D15V	possibly damaging	Het
Tm4sf19	T	C	16: 32,407,894	V167A	possibly damaging	Het
Trim38	A	C	13: 23,791,491	Q471P	probably benign	Het
Trmt1	T	A	8: 84,697,755		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375	I1500V	probably benign	Het
Vgll4	C	T	6: 114,890,612		probably null	Het
Vmn1r173	T	A	7: 23,703,016	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,637,954	G226R	probably damaging	Het
Wnk3	C	A	X: 151,233,213	P555Q	probably benign	Het
Yes1	T	G	5: 32,640,585	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 104,560,688	R322*	probably null	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
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
Z1176:Pcnt	UTSW	10	76382157	nonsense	probably null
Z1177:Pcnt	UTSW	10	76399968	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGATCAGCTGCTGGAGGATCAG -3'
(R):5'- TCTCAGAGCTGCAGAAGAGC -3'

Sequencing Primer
(F):5'- AGGATTGCTCTCACCAGCGTC -3'
(R):5'- TCACTCGAGCTCTCAGAGG -3'

Posted On

2015-07-07