Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02237:Pcnt'

285935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m275Asp, m239Asp, Pcnt2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02237

Quality Score

Status

Chromosome

Chromosomal Location

76187097-76278620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76188818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 2861 (D2861Y)

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: D2879Y

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

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D2879Y

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 damaging
Transcript: ENSMUST00000217838
AA Change: D2861Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219011

Predicted Effect

probably benign
Transcript: ENSMUST00000219243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	A	2: 181,135,350 (GRCm39)	V84E	probably benign	Het
Adam39	A	T	8: 41,278,482 (GRCm39)	E291V	probably benign	Het
Ak5	T	A	3: 152,204,980 (GRCm39)	D372V	probably benign	Het
Brpf1	C	T	6: 113,287,336 (GRCm39)	P188L	probably damaging	Het
Cacna2d3	C	T	14: 29,068,954 (GRCm39)	V258I	probably benign	Het
Cd14	A	G	18: 36,858,912 (GRCm39)	F181S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cts6	A	T	13: 61,345,313 (GRCm39)	D261E	probably benign	Het
Daam1	A	G	12: 72,029,495 (GRCm39)	T897A	probably benign	Het
Ddx25	T	A	9: 35,453,365 (GRCm39)		probably benign	Het
Ddx55	A	G	5: 124,705,958 (GRCm39)	E461G	probably damaging	Het
Degs1	T	C	1: 182,107,253 (GRCm39)	K2R	probably damaging	Het
Drc7	C	T	8: 95,799,507 (GRCm39)	L561F	probably damaging	Het
Eif4enif1	A	T	11: 3,177,876 (GRCm39)	K423*	probably null	Het
Epha7	A	G	4: 28,949,325 (GRCm39)		probably null	Het
Erich5	A	C	15: 34,471,482 (GRCm39)	E237A	probably benign	Het
Ficd	A	G	5: 113,876,373 (GRCm39)	T183A	probably damaging	Het
Foxb2	T	C	19: 16,850,908 (GRCm39)	M33V	unknown	Het
Gja8	T	G	3: 96,827,249 (GRCm39)	S138R	probably benign	Het
Gm28042	T	G	2: 119,870,380 (GRCm39)	L743V	possibly damaging	Het
Gtf3c2	A	T	5: 31,316,397 (GRCm39)		probably benign	Het
Itga11	T	C	9: 62,663,057 (GRCm39)		probably null	Het
Kazn	A	T	4: 141,874,410 (GRCm39)	D315E	probably benign	Het
Kbtbd2	A	T	6: 56,756,033 (GRCm39)	S568T	possibly damaging	Het
Man1c1	A	C	4: 134,311,609 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,670,854 (GRCm39)	S463P	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Oog2	T	A	4: 143,923,016 (GRCm39)	F427Y	possibly damaging	Het
Pcmtd1	T	C	1: 7,233,601 (GRCm39)		probably null	Het
Pdzd7	C	T	19: 45,028,697 (GRCm39)	A149T	probably damaging	Het
Pebp4	A	T	14: 70,297,105 (GRCm39)	T215S	possibly damaging	Het
Pgm1	T	C	4: 99,820,707 (GRCm39)		probably benign	Het
Plekhh2	T	A	17: 84,883,213 (GRCm39)	D760E	probably benign	Het
Pomt1	T	C	2: 32,135,689 (GRCm39)	I351T	probably benign	Het
Ptpn21	C	T	12: 98,671,351 (GRCm39)		probably null	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Rsbn1l	A	T	5: 21,124,604 (GRCm39)	N399K	probably benign	Het
Sec31a	A	G	5: 100,509,914 (GRCm39)	V1191A	probably damaging	Het
Sema6c	C	T	3: 95,077,430 (GRCm39)	P414L	probably damaging	Het
Serpinb5	T	C	1: 106,808,056 (GRCm39)	S69P	probably benign	Het
Slc25a13	C	T	6: 6,042,646 (GRCm39)	R586H	probably damaging	Het
Spink5	T	A	18: 44,145,934 (GRCm39)	M776K	probably benign	Het
Srcap	A	G	7: 127,133,864 (GRCm39)		probably benign	Het
Stt3a	G	A	9: 36,660,933 (GRCm39)	Q293*	probably null	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tomm40l	C	T	1: 171,048,463 (GRCm39)	V97M	possibly damaging	Het
Trpc4	C	T	3: 54,129,783 (GRCm39)	S183F	probably damaging	Het
Ttn	C	T	2: 76,716,478 (GRCm39)		probably benign	Het
Ufl1	A	C	4: 25,269,082 (GRCm39)	S170A	probably benign	Het
Vmn2r66	G	A	7: 84,643,908 (GRCm39)	T834I	probably benign	Het
Vmn2r75	A	G	7: 85,814,786 (GRCm39)	S236P	possibly damaging	Het
Zfp345	A	T	2: 150,316,805 (GRCm39)		probably benign	Het
Zfp955b	T	C	17: 33,520,893 (GRCm39)	S121P	probably 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
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
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

Posted On

2015-04-16