Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Pcnt'

577912

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76389450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1740 (H1740R)

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: H1740R

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

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: H1740R

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: H1740R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 156,003,389	S32P	possibly damaging	Het
Acaca	T	C	11: 84,245,310	V497A	probably benign	Het
Acox1	T	C	11: 116,180,961	T214A	probably benign	Het
Adgrb2	G	A	4: 130,014,637		probably null	Het
Adh1	G	A	3: 138,289,941		probably null	Het
Angptl1	G	T	1: 156,844,851	M82I	probably benign	Het
Arg1	A	G	10: 24,915,776	L269P	probably damaging	Het
Arid2	T	G	15: 96,370,724	V906G	probably benign	Het
Arid5b	A	T	10: 68,243,164	H114Q	probably benign	Het
Atad5	T	C	11: 80,119,143		probably null	Het
AU040320	G	A	4: 126,835,700		probably null	Het
B230104I21Rik	A	T	4: 154,347,728	T44S	unknown	Het
BC024063	G	A	10: 82,110,157	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,453,107	L177Q	probably damaging	Het
Birc5	C	A	11: 117,852,681	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,264,695	L382P	probably damaging	Het
Ces2c	A	T	8: 104,849,670	N105I	probably benign	Het
Cflar	G	A	1: 58,753,797	V441M		Het
Ckap4	A	G	10: 84,528,599	V200A	probably damaging	Het
Clec16a	C	A	16: 10,644,822	T668N	probably damaging	Het
Cntrl	A	C	2: 35,155,409	E1376D	possibly damaging	Het
Col18a1	A	T	10: 77,085,210		probably null	Het
Coq2	T	C	5: 100,663,586	Y179C	probably benign	Het
Cpne6	A	G	14: 55,512,016	E11G	probably benign	Het
Cr2	A	C	1: 195,165,257		probably null	Het
Csf2rb2	C	T	15: 78,285,291	D555N	probably benign	Het
Cyp2j12	A	T	4: 96,102,126	V401D	possibly damaging	Het
Dbp	C	T	7: 45,705,703	A27V	probably benign	Het
Dll1	C	A	17: 15,374,889	R42L	probably benign	Het
Dst	C	A	1: 34,191,358	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,681,467	V283F	possibly damaging	Het
Enah	C	T	1: 181,961,905	C7Y	unknown	Het
Fam193a	A	T	5: 34,464,116	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,320,959	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,597,690	V91A	probably damaging	Het
Fn1	T	A	1: 71,590,880	D2343V	probably damaging	Het
Galk2	T	C	2: 125,887,861	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,202,706	Y193F	probably damaging	Het
Gm45861	G	T	8: 27,541,658	R867L	unknown	Het
Grin2b	T	C	6: 135,740,949	D715G	possibly damaging	Het
Hltf	A	T	3: 20,082,752	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,614,967	M111T	probably damaging	Het
Idua	A	G	5: 108,681,496	T388A	probably benign	Het
Kat14	T	C	2: 144,380,734	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,990		probably null	Het
Klra10	A	G	6: 130,280,364	V59A	probably damaging	Het
Limk1	T	A	5: 134,669,237	I223F	probably damaging	Het
Lrp10	G	A	14: 54,468,456	G368S	probably damaging	Het
Lrrc7	T	C	3: 158,185,409	R374G	probably benign	Het
Lypd1	T	A	1: 125,873,566	M66L	probably benign	Het
Maats1	A	G	16: 38,321,479	S364P	possibly damaging	Het
Mast4	C	T	13: 102,804,641		probably null	Het
Mbp	C	T	18: 82,554,643	H155Y	probably damaging	Het
Micu3	G	A	8: 40,335,898	C150Y	probably benign	Het
Mras	C	T	9: 99,389,740	V174I	probably benign	Het
Mroh1	T	A	15: 76,433,545	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,225,662	G101*	probably null	Het
Mylk2	A	T	2: 152,912,433	K149M	probably damaging	Het
Myom3	T	A	4: 135,801,035	L1064I	probably damaging	Het
Naa30	A	G	14: 49,187,687	*365W	probably null	Het
Ncoa1	C	T	12: 4,259,307	G1330R	probably damaging	Het
Nhlh1	T	A	1: 172,054,279	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882	Q110R	probably benign	Het
Nostrin	T	C	2: 69,183,896	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,509,511	T263K	possibly damaging	Het
Nup153	T	C	13: 46,681,181	T1456A	probably damaging	Het
Olfr116	G	T	17: 37,624,385	D83E	probably benign	Het
Olfr154	T	A	2: 85,664,180	M85L	probably benign	Het
Olfr558	T	A	7: 102,709,517	I86N	probably damaging	Het
Olfr67	T	A	7: 103,787,672	I202F	possibly damaging	Het
Olfr933	A	T	9: 38,976,204	H176L	probably damaging	Het
Olfr97	T	C	17: 37,231,980	Y130C	probably damaging	Het
Pan3	G	A	5: 147,526,681		probably null	Het
Pcdhgb2	C	T	18: 37,691,015	T353I	probably damaging	Het
Pcif1	A	T	2: 164,888,364	H339L	probably damaging	Het
Pcif1	A	G	2: 164,889,630	H501R	possibly damaging	Het
Polr1b	T	A	2: 129,125,663	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,927,830	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,462,342	F388L	probably damaging	Het
Ptpre	G	T	7: 135,538,074	R4L	unknown	Het
Pzp	G	T	6: 128,486,916	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,556,476	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,917,660	P481S	probably damaging	Het
Rgs9	T	A	11: 109,227,268	R579W	probably damaging	Het
Rhot1	T	C	11: 80,248,540		probably null	Het
Rnf123	T	A	9: 108,070,408		probably null	Het
Rreb1	T	G	13: 37,941,569	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,909,293	E400G	probably benign	Het
Rufy4	T	A	1: 74,129,334		probably null	Het
S100pbp	A	G	4: 129,182,085	L149P	probably damaging	Het
Sall3	T	C	18: 80,972,040	D891G	probably benign	Het
Scn10a	C	T	9: 119,638,552	V841I	probably benign	Het
Scn5a	T	A	9: 119,522,590	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,809,796		probably null	Het
Slc24a1	A	T	9: 64,949,301	M108K	unknown	Het
Spata22	T	A	11: 73,335,990		probably null	Het
Stk4	A	G	2: 164,086,602	N118S	probably benign	Het
Stt3a	A	T	9: 36,747,970	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,950,995	F531I	probably damaging	Het
Tfrc	A	G	16: 32,619,049	T307A	probably damaging	Het
Thegl	A	G	5: 77,060,786	H387R	probably damaging	Het
Tnpo2	T	C	8: 85,055,022	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,767	Y230C	probably damaging	Het
Ttll13	A	G	7: 80,260,434	D775G	probably benign	Het
Ttn	T	C	2: 76,944,929	K1969R	unknown	Het
Ube2s	G	A	7: 4,810,436	R110*	probably null	Het
Ubxn11	G	A	4: 134,126,229	R364Q	probably benign	Het
Unc13d	T	C	11: 116,067,871	Q773R	probably benign	Het
Ush2a	T	C	1: 188,553,111	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,592,761	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Vmn2r71	A	T	7: 85,624,089	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,313,318	S495T	probably benign	Het
Wiz	T	A	17: 32,379,075	I102F	probably benign	Het
Zan	A	C	5: 137,466,002	L514V	probably damaging	Het
Zfp106	T	A	2: 120,510,527	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,545,919		probably null	Het
Zfp738	T	C	13: 67,670,355	T506A	probably benign	Het
Zfp934	T	C	13: 62,518,703	N53S	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
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
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'- TCTGGCATTTCAACTTGGACC -3'
(R):5'- ACCCAACTTTCAAGCTTTAGTTCTG -3'

Sequencing Primer
(F):5'- TTTCAACTTGGACCAACAAATCCTG -3'
(R):5'- AAGCTTTAGTTCTGTTTTCTATGCC -3'

Posted On

2019-10-07