Mutagenetix > Incidental Mutation

Incidental Mutation 'R5118:Pcnt'

392751

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

042706-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76412168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 931 (A931T)

Ref Sequence

ENSEMBL: ENSMUSP00000001179 (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: A931T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: A931T

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: A931T

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Meta Mutation Damage Score

0.1199

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

96% (52/54)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Adamts2	A	G	11: 50,781,869	E648G	probably damaging	Het
Ankrd55	A	G	13: 112,355,939	S187G	probably benign	Het
BC080695	T	C	4: 143,571,127	L39P	probably damaging	Het
C87414	T	A	5: 93,637,797	D208V	probably benign	Het
Cd44	C	A	2: 102,865,370	E52D	probably damaging	Het
Col6a5	T	A	9: 105,937,005	I603F	unknown	Het
Dmxl2	C	A	9: 54,460,987	R233L	probably damaging	Het
Dopey1	T	C	9: 86,506,259	F429L	probably damaging	Het
Epsti1	T	G	14: 77,986,682		probably null	Het
Erfe	G	T	1: 91,370,716		probably null	Het
Galnt5	A	G	2: 58,015,003	D526G	probably damaging	Het
Gm1330	T	C	2: 149,002,986		probably benign	Het
Gm6181	G	A	7: 52,755,616		noncoding transcript	Het
Irak2	T	A	6: 113,665,811	V68D	probably benign	Het
Kdm1a	A	G	4: 136,557,358		probably benign	Het
Kidins220	C	A	12: 24,992,297	Q198K	probably damaging	Het
Lgr5	A	G	10: 115,452,339	V728A	possibly damaging	Het
Micall2	G	A	5: 139,716,447	T347M	probably damaging	Het
Mrap2	T	C	9: 87,182,703	F166L	possibly damaging	Het
Msh3	A	T	13: 92,309,434		probably benign	Het
Mul1	T	A	4: 138,439,349	L238Q	probably damaging	Het
Nuak1	G	T	10: 84,374,984	H413Q	probably benign	Het
Olfr1408	T	C	1: 173,130,917	Q100R	possibly damaging	Het
Pddc1	A	T	7: 141,406,806		probably benign	Het
Psmb4	T	C	3: 94,884,942	Y223C	probably damaging	Het
Rbm15b	G	T	9: 106,886,102	A289E	possibly damaging	Het
Reg3b	T	A	6: 78,372,128	V79E	probably damaging	Het
Rsl1	A	G	13: 67,181,981	I164M	probably damaging	Het
Rtp1	T	C	16: 23,431,535	F217L	probably benign	Het
Sfmbt1	T	C	14: 30,790,770	L360P	probably damaging	Het
Sorbs2	T	C	8: 45,795,785	V611A	probably damaging	Het
Tenm4	T	A	7: 96,893,086	D1935E	probably damaging	Het
Tep1	T	C	14: 50,855,587		probably null	Het
Tmppe	T	G	9: 114,405,481	S283A	probably benign	Het
Tmtc1	A	G	6: 148,269,987		probably benign	Het
Trp63	T	C	16: 25,889,010	I552T	unknown	Het
Tspan2	C	A	3: 102,749,835	D45E	probably benign	Het
Ubr1	T	C	2: 120,882,264	E1396G	probably benign	Het
Usp17lc	A	T	7: 103,418,661	T388S	probably benign	Het
Wdr46	T	C	17: 33,948,837	V508A	possibly damaging	Het
Zcchc11	T	A	4: 108,520,292	D966E	possibly damaging	Het
Zfp462	T	A	4: 55,010,667	Y878N	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het
Zfp954	T	A	7: 7,115,715	T277S	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
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
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'- GGGCGTTCTCAGCATAATGG -3'
(R):5'- CCCCATTTTACCAGAGAGCATG -3'

Sequencing Primer
(F):5'- GGATACACTGCGCTAATACAGGC -3'
(R):5'- CCAGAGAGCATGTTTTTATTGAAGCC -3'

Posted On

2016-06-15