Mutagenetix > Incidental Mutation

Incidental Mutation 'R7764:Pcnt'

598133

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m275Asp, m239Asp, Pcnt2

MMRRC Submission

045820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76187097-76278620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76190082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2818 (D2818G)

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: D2836G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D2836G

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: D2818G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000219243

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,040 (GRCm39)	L93V	probably benign	Het
Adss2	A	C	1: 177,591,827 (GRCm39)	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,971,563 (GRCm39)	K102*	probably null	Het
Ccdc162	A	T	10: 41,566,109 (GRCm39)	V78D	possibly damaging	Het
Ccr3	T	C	9: 123,829,451 (GRCm39)	V262A	probably benign	Het
Cdk13	A	T	13: 17,895,890 (GRCm39)		probably null	Het
Cdyl	A	T	13: 36,000,126 (GRCm39)	T136S	possibly damaging	Het
Chd2	T	C	7: 73,121,567 (GRCm39)	D1015G	probably null	Het
Cntn2	C	A	1: 132,450,101 (GRCm39)	A598S	probably benign	Het
Cxxc4	G	T	3: 133,945,856 (GRCm39)	G146C	unknown	Het
Dnah2	G	A	11: 69,348,984 (GRCm39)	T2501I	probably benign	Het
Dock8	T	A	19: 25,074,899 (GRCm39)	I471N	probably benign	Het
Eaf2	A	G	16: 36,645,045 (GRCm39)	V59A	probably damaging	Het
Egflam	T	A	15: 7,347,736 (GRCm39)	I65F	probably damaging	Het
Exoc3l	A	G	8: 106,017,333 (GRCm39)	V577A	possibly damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fosb	T	C	7: 19,038,971 (GRCm39)	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,272,891 (GRCm39)	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,811,252 (GRCm39)	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,271,024 (GRCm39)	T143A	probably benign	Het
Grk2	A	T	19: 4,337,391 (GRCm39)	L632Q	probably damaging	Het
Hars1	A	T	18: 36,903,237 (GRCm39)	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,279,482 (GRCm39)	G154*	probably null	Het
Kif5c	T	C	2: 49,617,973 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,639,339 (GRCm39)	L800P	probably damaging	Het
Krt19	T	C	11: 100,032,218 (GRCm39)	N282S	probably benign	Het
Med23	T	G	10: 24,785,818 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,699,085 (GRCm39)	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842 (GRCm39)	S1106P	probably damaging	Het
Mprip	A	G	11: 59,655,242 (GRCm39)	T733A	probably damaging	Het
Mul1	G	A	4: 138,162,080 (GRCm39)	G4S	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	G	T	16: 34,742,553 (GRCm39)	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,454 (GRCm39)	N75K	probably damaging	Het
Nfib	A	G	4: 82,238,731 (GRCm39)	S492P	possibly damaging	Het
Notch2	A	T	3: 98,050,304 (GRCm39)	I1860F	probably damaging	Het
Or9i14	A	G	19: 13,792,111 (GRCm39)	I281T	probably benign	Het
Oxr1	T	C	15: 41,683,263 (GRCm39)	S298P	probably benign	Het
Pmpcb	G	A	5: 21,948,450 (GRCm39)	A244T	probably damaging	Het
Poln	A	G	5: 34,274,151 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,930,054 (GRCm39)	V914M	probably damaging	Het
Rab15	A	C	12: 76,851,215 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,876,747 (GRCm39)	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,229,134 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,613 (GRCm39)	G15W	probably damaging	Het
Scrib	T	C	15: 75,919,242 (GRCm39)	*1666W	probably null	Het
Setd1b	G	C	5: 123,284,622 (GRCm39)	R184P	unknown	Het
Sfxn2	A	T	19: 46,574,179 (GRCm39)	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,677,383 (GRCm39)	W262R	probably damaging	Het
Slc38a10	A	G	11: 119,995,905 (GRCm39)	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,181,416 (GRCm39)	S1077R	possibly damaging	Het
Them7	G	T	2: 105,128,171 (GRCm39)	E51*	probably null	Het
Ubc	A	G	5: 125,465,133 (GRCm39)	S65P	possibly damaging	Het
Ubqln3	A	T	7: 103,790,443 (GRCm39)	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,529 (GRCm39)	L228P	probably damaging	Het
Vmn2r60	A	G	7: 41,844,535 (GRCm39)	T633A	probably damaging	Het
Zfp382	T	C	7: 29,832,700 (GRCm39)	V117A	probably benign	Het
Zic1	C	T	9: 91,247,745 (GRCm39)		probably benign	Het
Zmym4	A	T	4: 126,819,409 (GRCm39)	F165I	probably benign	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
R7368:Pcnt	UTSW	10	76,235,835 (GRCm39)	missense	probably benign
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
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'- GCCGGTCAAAGACAGAATTG -3'
(R):5'- AGGGCCAGAGTCATTCAAGC -3'

Sequencing Primer
(F):5'- GTCAAACCAACATTTCTCTGGG -3'
(R):5'- GAGTCATTCAAGCAAAATGTAGGTC -3'

Posted On

2019-11-26