Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Pcnt'

591652

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

045737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7662 (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 76387522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1942 (D1942G)

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: D1942G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D1942G

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: D1942G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	C	11: 58,447,443	N41S	probably benign	Het
4930563M21Rik	G	A	9: 55,978,715	S48L	probably benign	Het
5830411N06Rik	T	C	7: 140,294,812	V401A	possibly damaging	Het
Abi3bp	A	G	16: 56,617,323		probably null	Het
Adssl1	T	A	12: 112,639,738	V456E	probably damaging	Het
Aimp1	A	T	3: 132,674,066	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694	R270C	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Asb15	T	A	6: 24,566,090	D347E	probably benign	Het
Axin2	T	A	11: 108,942,456	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,357,890		probably benign	Het
BC003331	T	C	1: 150,382,294	S197G	probably benign	Het
Cdc6	T	A	11: 98,910,612	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,917,010	L443P	probably benign	Het
Celf2	C	A	2: 6,553,917	G393C	probably damaging	Het
Cep290	T	A	10: 100,537,803	M1315K	probably benign	Het
Cntn5	A	T	9: 9,661,385	M887K	probably benign	Het
Col17a1	T	C	19: 47,681,501	I71V	probably benign	Het
Crot	T	C	5: 8,969,072	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,636,869	V246D	probably damaging	Het
Cyb5r4	A	G	9: 87,027,038	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,493,103	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,852,431	I273V	probably damaging	Het
Dkk2	A	G	3: 132,177,868		probably null	Het
Dnaja2	A	C	8: 85,539,276	D393E	probably benign	Het
Dscc1	T	A	15: 55,076,165	I461F	possibly damaging	Het
Dspp	A	T	5: 104,177,870	S700C	unknown	Het
Ect2	T	A	3: 27,131,798	H512L	probably damaging	Het
Eif1b	A	G	9: 120,494,211	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,507,565	D182E	probably damaging	Het
Fez1	C	A	9: 36,870,500	P347H	probably damaging	Het
Fgd5	G	A	6: 92,049,931		probably null	Het
Flad1	T	A	3: 89,403,451	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,940,892	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,199,407	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,846,852	S16Y	unknown	Het
Gm5624	T	C	14: 44,561,933	R56G	possibly damaging	Het
Gpatch11	A	C	17: 78,839,055	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,166,435	T409A	probably benign	Het
Hmcn2	T	C	2: 31,382,345	I1279T	probably benign	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Itih3	T	A	14: 30,917,330	N429Y	probably benign	Het
Lrp5	A	G	19: 3,686,353		probably null	Het
Lrrc34	T	A	3: 30,643,303	Y93F	probably benign	Het
Malrd1	T	A	2: 15,871,454	V1404D	unknown	Het
Med1	T	C	11: 98,155,392	N1526S	unknown	Het
Myt1l	A	G	12: 29,826,869	D173G	unknown	Het
Nckap1l	A	T	15: 103,462,585	H197L	probably damaging	Het
Nipa1	T	C	7: 55,979,624	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,642,178	R132*	probably null	Het
Nrap	G	T	19: 56,320,283	A1700E	probably benign	Het
Olfr1340	T	A	4: 118,726,307	F20Y	probably damaging	Het
Olfr951	A	T	9: 39,394,093	M98L	probably benign	Het
Padi6	T	C	4: 140,728,995	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,498,735	E528K	probably damaging	Het
Pcnx2	C	T	8: 125,818,771	W1167*	probably null	Het
Pkp3	C	T	7: 141,078,379	T19I	probably benign	Het
Plekhg5	T	C	4: 152,104,298	L199P	probably damaging	Het
Rasal1	A	G	5: 120,662,184	T171A	probably benign	Het
Rgsl1	T	C	1: 153,825,479	I410V	probably benign	Het
Sftpa1	C	A	14: 41,134,212	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,877,540	*686R	probably null	Het
Smap1	A	T	1: 23,877,774	N91K	probably damaging	Het
Tenm3	A	G	8: 48,335,727	S695P	probably benign	Het
Thoc3	A	T	13: 54,463,804	H223Q	probably damaging	Het
Tmco4	T	C	4: 139,010,561	F156L	probably benign	Het
Tmem30a	C	T	9: 79,775,231	V188I	probably benign	Het
Trim27	T	A	13: 21,192,158	C359S	probably benign	Het
Trrap	A	G	5: 144,832,511	T2609A	probably benign	Het
Ttn	A	G	2: 76,862,400	V446A		Het
Vat1l	T	A	8: 114,282,344	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,360,627	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,331,562	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,811,284	L606*	probably null	Het
Vmn2r93	G	T	17: 18,305,369	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304	N466K	probably damaging	Het
Zfp507	A	T	7: 35,787,804	Y746*	probably null	Het
Zfp521	A	C	18: 13,844,116	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,953,853		probably null	Het
Zfp831	G	A	2: 174,646,141	A870T	possibly damaging	Het
Zfp936	A	T	7: 43,189,912	K268*	probably null	Het
Zhx2	C	A	15: 57,822,176	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679	K654*	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
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
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
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'- GGACCTGGTGGAACCTTTGTAG -3'
(R):5'- GGGGTATACATGTTATCTAAGATACCC -3'

Sequencing Primer
(F):5'- GTGGAACCTTTGTAGTATCCTGAAC -3'
(R):5'- AGTTTACACCCAGGTTGTCAAGC -3'

Posted On

2019-11-12