Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Pcnt'

571936

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m275Asp, m239Asp, Pcnt2

MMRRC Submission

045452-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76187097-76278620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76235835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1382 (N1382S)

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: N1382S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: N1382S

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: N1382S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,659,639 (GRCm39)	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,094,765 (GRCm39)	V564I	probably damaging	Het
Apol9b	T	C	15: 77,620,134 (GRCm39)	I310T	possibly damaging	Het
Arhgef28	C	A	13: 98,133,370 (GRCm39)	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,254,773 (GRCm39)	T199I	possibly damaging	Het
Carmil2	C	T	8: 106,417,467 (GRCm39)	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,386,691 (GRCm39)	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,989 (GRCm39)	S239T	probably damaging	Het
Cyrib	A	T	15: 63,810,507 (GRCm39)		probably null	Het
Ddit3	G	A	10: 127,131,776 (GRCm39)	G108D	probably damaging	Het
Dnah3	T	C	7: 119,628,239 (GRCm39)	I1473V	probably benign	Het
Dscam	A	G	16: 96,445,131 (GRCm39)	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 106,615,037 (GRCm39)		probably benign	Het
Ednrb	T	A	14: 104,057,453 (GRCm39)	I370F	probably benign	Het
Ehd3	A	G	17: 74,134,457 (GRCm39)	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fkbp11	T	C	15: 98,622,307 (GRCm39)	K189E	unknown	Het
Frem1	T	A	4: 82,884,381 (GRCm39)	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,867,390 (GRCm39)	Y76*	probably null	Het
Gm11437	T	A	11: 84,058,298 (GRCm39)		probably benign	Het
Gm8947	C	A	1: 151,068,847 (GRCm39)	Q227K	probably benign	Het
Gm9195	A	G	14: 72,717,496 (GRCm39)	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,430,655 (GRCm39)	I42T	probably benign	Het
Hdac5	A	T	11: 102,088,207 (GRCm39)	V939E	probably null	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kitl	A	T	10: 99,851,943 (GRCm39)	I21F	probably benign	Het
Krt1	T	C	15: 101,755,307 (GRCm39)	D484G	probably damaging	Het
Larp1	C	A	11: 57,938,904 (GRCm39)	P527T	probably damaging	Het
Lrp5	A	G	19: 3,670,085 (GRCm39)	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,318 (GRCm39)	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	G	T	11: 60,381,741 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,424,384 (GRCm39)	K26E	possibly damaging	Het
Nek1	T	A	8: 61,542,741 (GRCm39)	I777N	probably benign	Het
Nlrc5	C	T	8: 95,203,021 (GRCm39)	R374*	probably null	Het
Nol8	T	C	13: 49,814,695 (GRCm39)	S268P	probably benign	Het
Nynrin	T	A	14: 56,107,968 (GRCm39)	L1025Q	probably damaging	Het
Or8h9	A	G	2: 86,789,602 (GRCm39)	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,325,078 (GRCm39)	L140H	probably damaging	Het
Pef1	T	A	4: 130,021,178 (GRCm39)	L244*	probably null	Het
Phf11a	T	C	14: 59,518,174 (GRCm39)	E191G	probably benign	Het
Polr3a	A	T	14: 24,517,144 (GRCm39)	D702E	probably damaging	Het
Ptch1	C	T	13: 63,659,798 (GRCm39)	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993 (GRCm39)	D566G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,033,992 (GRCm39)	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,067,685 (GRCm39)	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,512,256 (GRCm39)	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,078,430 (GRCm39)	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stra6	G	A	9: 58,058,543 (GRCm39)	R468Q	probably benign	Het
Taf3	T	C	2: 9,921,188 (GRCm39)	H924R	unknown	Het
Tbx18	C	A	9: 87,612,750 (GRCm39)	V50L	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Unc45b	C	T	11: 82,833,321 (GRCm39)	T845I	probably benign	Het
Usp15	T	C	10: 123,032,798 (GRCm39)	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,821,355 (GRCm39)	D1288E	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het
Zfp638	A	G	6: 83,906,437 (GRCm39)	N201D	possibly damaging	Het

Other mutations in Pcnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Pcnt	APN	10	76,258,738 (GRCm39)	nonsense	probably null
IGL01307:Pcnt	APN	10	76,247,422 (GRCm39)	missense	probably damaging	1.00
IGL01549:Pcnt	APN	10	76,203,320 (GRCm39)	splice site	probably null
IGL01576:Pcnt	APN	10	76,204,656 (GRCm39)	missense	probably damaging	0.99
IGL01611:Pcnt	APN	10	76,272,258 (GRCm39)	critical splice donor site	probably null
IGL01630:Pcnt	APN	10	76,256,080 (GRCm39)	missense	probably damaging	0.99
IGL01647:Pcnt	APN	10	76,205,835 (GRCm39)	nonsense	probably null
IGL01689:Pcnt	APN	10	76,247,487 (GRCm39)	missense	probably damaging	1.00
IGL01690:Pcnt	APN	10	76,228,609 (GRCm39)	missense	probably damaging	1.00
IGL01723:Pcnt	APN	10	76,254,333 (GRCm39)	missense	possibly damaging	0.63
IGL01920:Pcnt	APN	10	76,240,362 (GRCm39)	missense	probably damaging	1.00
IGL01958:Pcnt	APN	10	76,269,513 (GRCm39)	missense	probably damaging	0.96
IGL02210:Pcnt	APN	10	76,225,053 (GRCm39)	missense	possibly damaging	0.95
IGL02225:Pcnt	APN	10	76,225,308 (GRCm39)	missense	probably benign	0.00
IGL02228:Pcnt	APN	10	76,225,308 (GRCm39)	missense	probably benign	0.00
IGL02237:Pcnt	APN	10	76,188,818 (GRCm39)	missense	probably damaging	1.00
IGL02279:Pcnt	APN	10	76,239,599 (GRCm39)	missense	probably damaging	1.00
IGL02303:Pcnt	APN	10	76,278,393 (GRCm39)	splice site	probably benign
IGL02355:Pcnt	APN	10	76,210,996 (GRCm39)	nonsense	probably null
IGL02362:Pcnt	APN	10	76,210,996 (GRCm39)	nonsense	probably null
IGL02428:Pcnt	APN	10	76,265,090 (GRCm39)	missense	probably damaging	0.99
IGL02536:Pcnt	APN	10	76,216,063 (GRCm39)	missense	possibly damaging	0.68
IGL02715:Pcnt	APN	10	76,204,556 (GRCm39)	splice site	probably benign
IGL02800:Pcnt	APN	10	76,248,417 (GRCm39)	nonsense	probably null
IGL03395:Pcnt	APN	10	76,272,325 (GRCm39)	missense	possibly damaging	0.95
IGL02799:Pcnt	UTSW	10	76,248,417 (GRCm39)	nonsense	probably null
PIT4520001:Pcnt	UTSW	10	76,256,069 (GRCm39)	missense	probably damaging	0.99
R0049:Pcnt	UTSW	10	76,205,655 (GRCm39)	unclassified	probably benign
R0049:Pcnt	UTSW	10	76,205,655 (GRCm39)	unclassified	probably benign
R0109:Pcnt	UTSW	10	76,225,030 (GRCm39)	missense	probably benign	0.00
R0117:Pcnt	UTSW	10	76,244,561 (GRCm39)	nonsense	probably null
R0254:Pcnt	UTSW	10	76,228,414 (GRCm39)	missense	probably benign	0.10
R0392:Pcnt	UTSW	10	76,220,660 (GRCm39)	missense	probably benign
R0511:Pcnt	UTSW	10	76,240,429 (GRCm39)	missense	possibly damaging	0.66
R0570:Pcnt	UTSW	10	76,247,941 (GRCm39)	missense	probably damaging	1.00
R0614:Pcnt	UTSW	10	76,256,150 (GRCm39)	missense	probably damaging	1.00
R0635:Pcnt	UTSW	10	76,240,419 (GRCm39)	missense	probably damaging	1.00
R0707:Pcnt	UTSW	10	76,256,375 (GRCm39)	missense	probably damaging	1.00
R0749:Pcnt	UTSW	10	76,217,198 (GRCm39)	missense	probably damaging	1.00
R0969:Pcnt	UTSW	10	76,263,785 (GRCm39)	missense	probably damaging	1.00
R1172:Pcnt	UTSW	10	76,228,878 (GRCm39)	splice site	probably null
R1174:Pcnt	UTSW	10	76,228,878 (GRCm39)	splice site	probably null
R1175:Pcnt	UTSW	10	76,228,878 (GRCm39)	splice site	probably null
R1512:Pcnt	UTSW	10	76,240,496 (GRCm39)	splice site	probably null
R1542:Pcnt	UTSW	10	76,237,220 (GRCm39)	missense	probably benign	0.02
R1542:Pcnt	UTSW	10	76,225,221 (GRCm39)	missense	probably benign	0.08
R1558:Pcnt	UTSW	10	76,258,756 (GRCm39)	missense	possibly damaging	0.53
R1562:Pcnt	UTSW	10	76,203,164 (GRCm39)	missense	probably benign	0.02
R1762:Pcnt	UTSW	10	76,190,971 (GRCm39)	critical splice acceptor site	probably null
R1779:Pcnt	UTSW	10	76,244,630 (GRCm39)	missense	probably damaging	0.99
R1869:Pcnt	UTSW	10	76,215,740 (GRCm39)	missense	probably null	0.94
R1911:Pcnt	UTSW	10	76,204,650 (GRCm39)	missense	possibly damaging	0.94
R1985:Pcnt	UTSW	10	76,216,171 (GRCm39)	missense	possibly damaging	0.95
R1995:Pcnt	UTSW	10	76,228,633 (GRCm39)	nonsense	probably null
R2073:Pcnt	UTSW	10	76,216,214 (GRCm39)	missense	possibly damaging	0.92
R2111:Pcnt	UTSW	10	76,256,360 (GRCm39)	missense	probably damaging	0.99
R2112:Pcnt	UTSW	10	76,256,360 (GRCm39)	missense	probably damaging	0.99
R2309:Pcnt	UTSW	10	76,278,460 (GRCm39)	start gained	probably benign
R2902:Pcnt	UTSW	10	76,211,064 (GRCm39)	missense	probably damaging	0.98
R3623:Pcnt	UTSW	10	76,269,584 (GRCm39)	missense	probably benign	0.23
R4088:Pcnt	UTSW	10	76,263,848 (GRCm39)	missense	probably damaging	1.00
R4300:Pcnt	UTSW	10	76,203,225 (GRCm39)	missense	probably benign	0.40
R4402:Pcnt	UTSW	10	76,228,227 (GRCm39)	missense	probably benign	0.00
R4407:Pcnt	UTSW	10	76,210,704 (GRCm39)	missense	possibly damaging	0.90
R4483:Pcnt	UTSW	10	76,237,317 (GRCm39)	missense	probably damaging	1.00
R4647:Pcnt	UTSW	10	76,190,047 (GRCm39)	missense	probably benign	0.01
R4734:Pcnt	UTSW	10	76,273,040 (GRCm39)	missense	probably benign	0.25
R4747:Pcnt	UTSW	10	76,272,299 (GRCm39)	missense	possibly damaging	0.91
R4782:Pcnt	UTSW	10	76,245,411 (GRCm39)	missense	possibly damaging	0.62
R4795:Pcnt	UTSW	10	76,205,858 (GRCm39)	missense	probably benign	0.21
R4831:Pcnt	UTSW	10	76,248,335 (GRCm39)	missense	probably damaging	0.96
R4873:Pcnt	UTSW	10	76,205,688 (GRCm39)	missense	probably benign	0.03
R4875:Pcnt	UTSW	10	76,205,688 (GRCm39)	missense	probably benign	0.03
R4946:Pcnt	UTSW	10	76,192,019 (GRCm39)	missense	probably damaging	1.00
R5032:Pcnt	UTSW	10	76,190,911 (GRCm39)	missense	probably benign	0.00
R5033:Pcnt	UTSW	10	76,235,779 (GRCm39)	missense	possibly damaging	0.95
R5106:Pcnt	UTSW	10	76,237,278 (GRCm39)	missense	probably damaging	1.00
R5118:Pcnt	UTSW	10	76,248,002 (GRCm39)	missense	probably damaging	0.98
R5167:Pcnt	UTSW	10	76,256,258 (GRCm39)	missense	probably damaging	0.97
R5199:Pcnt	UTSW	10	76,254,378 (GRCm39)	missense	probably benign	0.09
R5223:Pcnt	UTSW	10	76,216,106 (GRCm39)	missense	probably damaging	0.99
R5241:Pcnt	UTSW	10	76,269,451 (GRCm39)	missense	probably benign	0.26
R5308:Pcnt	UTSW	10	76,192,159 (GRCm39)	nonsense	probably null
R5328:Pcnt	UTSW	10	76,247,553 (GRCm39)	missense	probably damaging	1.00
R5454:Pcnt	UTSW	10	76,225,381 (GRCm39)	splice site	probably null
R5543:Pcnt	UTSW	10	76,247,886 (GRCm39)	missense	probably benign	0.01
R5588:Pcnt	UTSW	10	76,278,445 (GRCm39)	missense	possibly damaging	0.74
R5647:Pcnt	UTSW	10	76,221,675 (GRCm39)	missense	probably benign	0.17
R5668:Pcnt	UTSW	10	76,245,334 (GRCm39)	missense	probably benign	0.16
R5712:Pcnt	UTSW	10	76,265,105 (GRCm39)	missense	probably damaging	0.96
R5714:Pcnt	UTSW	10	76,256,325 (GRCm39)	missense	probably damaging	1.00
R5797:Pcnt	UTSW	10	76,228,590 (GRCm39)	missense	probably benign	0.00
R5946:Pcnt	UTSW	10	76,217,897 (GRCm39)	missense	possibly damaging	0.91
R5955:Pcnt	UTSW	10	76,247,456 (GRCm39)	missense	possibly damaging	0.45
R6024:Pcnt	UTSW	10	76,255,871 (GRCm39)	missense	possibly damaging	0.87
R6267:Pcnt	UTSW	10	76,221,632 (GRCm39)	missense	probably benign	0.02
R6485:Pcnt	UTSW	10	76,225,164 (GRCm39)	nonsense	probably null
R6605:Pcnt	UTSW	10	76,265,032 (GRCm39)	critical splice donor site	probably null
R6877:Pcnt	UTSW	10	76,269,851 (GRCm39)	missense	possibly damaging	0.94
R6882:Pcnt	UTSW	10	76,263,662 (GRCm39)	missense	probably benign	0.00
R6919:Pcnt	UTSW	10	76,221,632 (GRCm39)	missense	probably benign	0.02
R7025:Pcnt	UTSW	10	76,239,669 (GRCm39)	missense	probably damaging	1.00
R7098:Pcnt	UTSW	10	76,220,673 (GRCm39)	missense	probably benign
R7109:Pcnt	UTSW	10	76,205,738 (GRCm39)	missense	probably damaging	1.00
R7121:Pcnt	UTSW	10	76,263,761 (GRCm39)	missense	possibly damaging	0.73
R7143:Pcnt	UTSW	10	76,224,894 (GRCm39)	missense	possibly damaging	0.47
R7152:Pcnt	UTSW	10	76,247,194 (GRCm39)	splice site	probably null
R7213:Pcnt	UTSW	10	76,244,738 (GRCm39)	missense	probably damaging	1.00
R7453:Pcnt	UTSW	10	76,225,284 (GRCm39)	missense	probably benign
R7486:Pcnt	UTSW	10	76,254,271 (GRCm39)	missense	probably benign
R7486:Pcnt	UTSW	10	76,254,270 (GRCm39)	missense	probably benign	0.03
R7538:Pcnt	UTSW	10	76,235,773 (GRCm39)	missense	probably benign
R7575:Pcnt	UTSW	10	76,225,086 (GRCm39)	missense	probably benign	0.32
R7662:Pcnt	UTSW	10	76,223,356 (GRCm39)	missense	probably benign	0.27
R7685:Pcnt	UTSW	10	76,258,642 (GRCm39)	missense	probably benign	0.14
R7764:Pcnt	UTSW	10	76,190,082 (GRCm39)	missense	probably benign	0.33
R7802:Pcnt	UTSW	10	76,211,137 (GRCm39)	splice site	probably null
R8432:Pcnt	UTSW	10	76,256,039 (GRCm39)	missense	probably damaging	1.00
R8439:Pcnt	UTSW	10	76,256,039 (GRCm39)	missense	probably damaging	1.00
R8493:Pcnt	UTSW	10	76,239,457 (GRCm39)	critical splice donor site	probably null
R8530:Pcnt	UTSW	10	76,256,039 (GRCm39)	missense	probably damaging	1.00
R8535:Pcnt	UTSW	10	76,256,039 (GRCm39)	missense	probably damaging	1.00
R8830:Pcnt	UTSW	10	76,218,008 (GRCm39)	missense	probably benign	0.03
R8878:Pcnt	UTSW	10	76,244,675 (GRCm39)	missense	probably damaging	1.00
R8911:Pcnt	UTSW	10	76,223,359 (GRCm39)	missense	probably damaging	0.98
R8988:Pcnt	UTSW	10	76,245,407 (GRCm39)	nonsense	probably null
R9084:Pcnt	UTSW	10	76,235,826 (GRCm39)	missense	probably benign	0.09
R9169:Pcnt	UTSW	10	76,221,572 (GRCm39)	missense	possibly damaging	0.95
R9372:Pcnt	UTSW	10	76,258,960 (GRCm39)	missense	probably damaging	1.00
R9411:Pcnt	UTSW	10	76,258,896 (GRCm39)	missense	probably damaging	0.96
R9448:Pcnt	UTSW	10	76,256,360 (GRCm39)	missense	probably damaging	0.99
R9459:Pcnt	UTSW	10	76,228,572 (GRCm39)	missense	probably damaging	1.00
R9479:Pcnt	UTSW	10	76,217,963 (GRCm39)	missense	probably benign	0.00
R9503:Pcnt	UTSW	10	76,263,882 (GRCm39)	missense	possibly damaging	0.59
R9561:Pcnt	UTSW	10	76,217,128 (GRCm39)	nonsense	probably null
R9618:Pcnt	UTSW	10	76,188,794 (GRCm39)	missense	probably damaging	1.00
R9648:Pcnt	UTSW	10	76,190,089 (GRCm39)	missense	probably benign	0.32
R9733:Pcnt	UTSW	10	76,237,314 (GRCm39)	missense	probably benign	0.01
Z1176:Pcnt	UTSW	10	76,217,991 (GRCm39)	nonsense	probably null
Z1177:Pcnt	UTSW	10	76,235,802 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTTATGCAGAAGGGCTCG -3'
(R):5'- AGTGTAAGCATGCTCAGGTAAG -3'

Sequencing Primer
(F):5'- AAGGGCTCGGGGTCATG -3'
(R):5'- CTCAGGTAAGCTCAGATATGTGC -3'

Posted On

2019-09-13