Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01576:Pcnt'

91255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01576

Quality Score

Status

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76368822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 2583 (D2583A)

Ref Sequence

ENSEMBL: ENSMUSP00000001179 (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: D2583A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D2583A

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: D2565A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218747

Predicted Effect

unknown
Transcript: ENSMUST00000219243
AA Change: D4A

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,554,330 (GRCm38)		probably benign	Het
Ank3	A	G	10: 69,980,291 (GRCm38)	E541G	probably damaging	Het
Arhgef5	A	T	6: 43,274,028 (GRCm38)	D571V	probably benign	Het
Birc6	A	G	17: 74,677,370 (GRCm38)	N4459S	possibly damaging	Het
Brsk2	T	C	7: 141,981,555 (GRCm38)	I38T	possibly damaging	Het
Cacna2d4	A	T	6: 119,281,641 (GRCm38)	R563*	probably null	Het
Car7	T	A	8: 104,549,548 (GRCm38)		probably null	Het
Chml	T	C	1: 175,687,705 (GRCm38)	T217A	probably benign	Het
Dnah7b	T	G	1: 46,268,653 (GRCm38)	N3042K	probably damaging	Het
Efcab2	T	G	1: 178,437,392 (GRCm38)		probably benign	Het
Espn	T	C	4: 152,123,717 (GRCm38)	E397G	probably damaging	Het
Fam20c	A	G	5: 138,807,339 (GRCm38)	T443A	probably damaging	Het
Fam221b	T	C	4: 43,666,227 (GRCm38)	E128G	probably benign	Het
Fat4	A	G	3: 38,888,947 (GRCm38)	D663G	probably damaging	Het
Fndc10	T	A	4: 155,694,976 (GRCm38)	V159D	probably benign	Het
Gm14496	A	G	2: 181,991,371 (GRCm38)	Y49C	possibly damaging	Het
Gpr63	G	T	4: 25,008,445 (GRCm38)	D390Y	possibly damaging	Het
Herc2	G	A	7: 56,226,661 (GRCm38)		probably null	Het
Igdcc3	A	G	9: 65,177,870 (GRCm38)	T199A	probably damaging	Het
Ireb2	T	C	9: 54,892,510 (GRCm38)	Y412H	probably damaging	Het
Lpin3	T	C	2: 160,897,127 (GRCm38)	V285A	probably benign	Het
Mdga1	T	C	17: 29,843,127 (GRCm38)	S443G	possibly damaging	Het
Med22	C	T	2: 26,908,992 (GRCm38)		probably null	Het
Mpp6	G	A	6: 50,163,492 (GRCm38)	R164Q	probably benign	Het
Olfr1356	G	T	10: 78,847,373 (GRCm38)	L181I	possibly damaging	Het
Pkn3	G	A	2: 30,087,042 (GRCm38)	R598Q	probably damaging	Het
Pnpla7	T	C	2: 25,016,563 (GRCm38)	V646A	probably damaging	Het
Podxl	A	T	6: 31,524,384 (GRCm38)	V412D	probably damaging	Het
Rad51ap1	A	T	6: 126,928,160 (GRCm38)	S129R	probably damaging	Het
Relb	T	C	7: 19,612,601 (GRCm38)	I349V	probably benign	Het
Rorb	C	T	19: 18,957,334 (GRCm38)	G224D	probably damaging	Het
Slc40a1	T	A	1: 45,909,597 (GRCm38)	I508F	probably damaging	Het
Tanc1	G	A	2: 59,797,735 (GRCm38)	V619M	probably damaging	Het
Tgm7	A	T	2: 121,101,033 (GRCm38)	D216E	probably damaging	Het
Tmem132e	A	G	11: 82,438,374 (GRCm38)	D493G	probably damaging	Het
Zfp110	T	A	7: 12,849,671 (GRCm38)	C749S	probably damaging	Het
Zscan4d	T	C	7: 11,162,592 (GRCm38)	N284D	possibly damaging	Het

Other mutations in Pcnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Pcnt	APN	10	76,422,904 (GRCm38)	nonsense	probably null
IGL01307:Pcnt	APN	10	76,411,588 (GRCm38)	missense	probably damaging	1.00
IGL01549:Pcnt	APN	10	76,367,486 (GRCm38)	splice site	probably null
IGL01611:Pcnt	APN	10	76,436,424 (GRCm38)	critical splice donor site	probably null
IGL01630:Pcnt	APN	10	76,420,246 (GRCm38)	missense	probably damaging	0.99
IGL01647:Pcnt	APN	10	76,370,001 (GRCm38)	nonsense	probably null
IGL01689:Pcnt	APN	10	76,411,653 (GRCm38)	missense	probably damaging	1.00
IGL01690:Pcnt	APN	10	76,392,775 (GRCm38)	missense	probably damaging	1.00
IGL01723:Pcnt	APN	10	76,418,499 (GRCm38)	missense	possibly damaging	0.63
IGL01920:Pcnt	APN	10	76,404,528 (GRCm38)	missense	probably damaging	1.00
IGL01958:Pcnt	APN	10	76,433,679 (GRCm38)	missense	probably damaging	0.96
IGL02210:Pcnt	APN	10	76,389,219 (GRCm38)	missense	possibly damaging	0.95
IGL02225:Pcnt	APN	10	76,389,474 (GRCm38)	missense	probably benign	0.00
IGL02228:Pcnt	APN	10	76,389,474 (GRCm38)	missense	probably benign	0.00
IGL02237:Pcnt	APN	10	76,352,984 (GRCm38)	missense	probably damaging	1.00
IGL02279:Pcnt	APN	10	76,403,765 (GRCm38)	missense	probably damaging	1.00
IGL02303:Pcnt	APN	10	76,442,559 (GRCm38)	splice site	probably benign
IGL02355:Pcnt	APN	10	76,375,162 (GRCm38)	nonsense	probably null
IGL02362:Pcnt	APN	10	76,375,162 (GRCm38)	nonsense	probably null
IGL02428:Pcnt	APN	10	76,429,256 (GRCm38)	missense	probably damaging	0.99
IGL02536:Pcnt	APN	10	76,380,229 (GRCm38)	missense	possibly damaging	0.68
IGL02715:Pcnt	APN	10	76,368,722 (GRCm38)	splice site	probably benign
IGL02800:Pcnt	APN	10	76,412,583 (GRCm38)	nonsense	probably null
IGL03395:Pcnt	APN	10	76,436,491 (GRCm38)	missense	possibly damaging	0.95
IGL02799:Pcnt	UTSW	10	76,412,583 (GRCm38)	nonsense	probably null
PIT4520001:Pcnt	UTSW	10	76,420,235 (GRCm38)	missense	probably damaging	0.99
R0049:Pcnt	UTSW	10	76,369,821 (GRCm38)	unclassified	probably benign
R0049:Pcnt	UTSW	10	76,369,821 (GRCm38)	unclassified	probably benign
R0109:Pcnt	UTSW	10	76,389,196 (GRCm38)	missense	probably benign	0.00
R0117:Pcnt	UTSW	10	76,408,727 (GRCm38)	nonsense	probably null
R0254:Pcnt	UTSW	10	76,392,580 (GRCm38)	missense	probably benign	0.10
R0392:Pcnt	UTSW	10	76,384,826 (GRCm38)	missense	probably benign
R0511:Pcnt	UTSW	10	76,404,595 (GRCm38)	missense	possibly damaging	0.66
R0570:Pcnt	UTSW	10	76,412,107 (GRCm38)	missense	probably damaging	1.00
R0614:Pcnt	UTSW	10	76,420,316 (GRCm38)	missense	probably damaging	1.00
R0635:Pcnt	UTSW	10	76,404,585 (GRCm38)	missense	probably damaging	1.00
R0707:Pcnt	UTSW	10	76,420,541 (GRCm38)	missense	probably damaging	1.00
R0749:Pcnt	UTSW	10	76,381,364 (GRCm38)	missense	probably damaging	1.00
R0969:Pcnt	UTSW	10	76,427,951 (GRCm38)	missense	probably damaging	1.00
R1172:Pcnt	UTSW	10	76,393,044 (GRCm38)	splice site	probably null
R1174:Pcnt	UTSW	10	76,393,044 (GRCm38)	splice site	probably null
R1175:Pcnt	UTSW	10	76,393,044 (GRCm38)	splice site	probably null
R1512:Pcnt	UTSW	10	76,404,662 (GRCm38)	splice site	probably null
R1542:Pcnt	UTSW	10	76,401,386 (GRCm38)	missense	probably benign	0.02
R1542:Pcnt	UTSW	10	76,389,387 (GRCm38)	missense	probably benign	0.08
R1558:Pcnt	UTSW	10	76,422,922 (GRCm38)	missense	possibly damaging	0.53
R1562:Pcnt	UTSW	10	76,367,330 (GRCm38)	missense	probably benign	0.02
R1762:Pcnt	UTSW	10	76,355,137 (GRCm38)	critical splice acceptor site	probably null
R1779:Pcnt	UTSW	10	76,408,796 (GRCm38)	missense	probably damaging	0.99
R1869:Pcnt	UTSW	10	76,379,906 (GRCm38)	missense	probably null	0.94
R1911:Pcnt	UTSW	10	76,368,816 (GRCm38)	missense	possibly damaging	0.94
R1985:Pcnt	UTSW	10	76,380,337 (GRCm38)	missense	possibly damaging	0.95
R1995:Pcnt	UTSW	10	76,392,799 (GRCm38)	nonsense	probably null
R2073:Pcnt	UTSW	10	76,380,380 (GRCm38)	missense	possibly damaging	0.92
R2111:Pcnt	UTSW	10	76,420,526 (GRCm38)	missense	probably damaging	0.99
R2112:Pcnt	UTSW	10	76,420,526 (GRCm38)	missense	probably damaging	0.99
R2309:Pcnt	UTSW	10	76,442,626 (GRCm38)	start gained	probably benign
R2902:Pcnt	UTSW	10	76,375,230 (GRCm38)	missense	probably damaging	0.98
R3623:Pcnt	UTSW	10	76,433,750 (GRCm38)	missense	probably benign	0.23
R4088:Pcnt	UTSW	10	76,428,014 (GRCm38)	missense	probably damaging	1.00
R4300:Pcnt	UTSW	10	76,367,391 (GRCm38)	missense	probably benign	0.40
R4402:Pcnt	UTSW	10	76,392,393 (GRCm38)	missense	probably benign	0.00
R4407:Pcnt	UTSW	10	76,374,870 (GRCm38)	missense	possibly damaging	0.90
R4483:Pcnt	UTSW	10	76,401,483 (GRCm38)	missense	probably damaging	1.00
R4647:Pcnt	UTSW	10	76,354,213 (GRCm38)	missense	probably benign	0.01
R4734:Pcnt	UTSW	10	76,437,206 (GRCm38)	missense	probably benign	0.25
R4747:Pcnt	UTSW	10	76,436,465 (GRCm38)	missense	possibly damaging	0.91
R4782:Pcnt	UTSW	10	76,409,577 (GRCm38)	missense	possibly damaging	0.62
R4795:Pcnt	UTSW	10	76,370,024 (GRCm38)	missense	probably benign	0.21
R4831:Pcnt	UTSW	10	76,412,501 (GRCm38)	missense	probably damaging	0.96
R4873:Pcnt	UTSW	10	76,369,854 (GRCm38)	missense	probably benign	0.03
R4875:Pcnt	UTSW	10	76,369,854 (GRCm38)	missense	probably benign	0.03
R4946:Pcnt	UTSW	10	76,356,185 (GRCm38)	missense	probably damaging	1.00
R5032:Pcnt	UTSW	10	76,355,077 (GRCm38)	missense	probably benign	0.00
R5033:Pcnt	UTSW	10	76,399,945 (GRCm38)	missense	possibly damaging	0.95
R5106:Pcnt	UTSW	10	76,401,444 (GRCm38)	missense	probably damaging	1.00
R5118:Pcnt	UTSW	10	76,412,168 (GRCm38)	missense	probably damaging	0.98
R5167:Pcnt	UTSW	10	76,420,424 (GRCm38)	missense	probably damaging	0.97
R5199:Pcnt	UTSW	10	76,418,544 (GRCm38)	missense	probably benign	0.09
R5223:Pcnt	UTSW	10	76,380,272 (GRCm38)	missense	probably damaging	0.99
R5241:Pcnt	UTSW	10	76,433,617 (GRCm38)	missense	probably benign	0.26
R5308:Pcnt	UTSW	10	76,356,325 (GRCm38)	nonsense	probably null
R5328:Pcnt	UTSW	10	76,411,719 (GRCm38)	missense	probably damaging	1.00
R5454:Pcnt	UTSW	10	76,389,547 (GRCm38)	splice site	probably null
R5543:Pcnt	UTSW	10	76,412,052 (GRCm38)	missense	probably benign	0.01
R5588:Pcnt	UTSW	10	76,442,611 (GRCm38)	missense	possibly damaging	0.74
R5647:Pcnt	UTSW	10	76,385,841 (GRCm38)	missense	probably benign	0.17
R5668:Pcnt	UTSW	10	76,409,500 (GRCm38)	missense	probably benign	0.16
R5712:Pcnt	UTSW	10	76,429,271 (GRCm38)	missense	probably damaging	0.96
R5714:Pcnt	UTSW	10	76,420,491 (GRCm38)	missense	probably damaging	1.00
R5797:Pcnt	UTSW	10	76,392,756 (GRCm38)	missense	probably benign	0.00
R5946:Pcnt	UTSW	10	76,382,063 (GRCm38)	missense	possibly damaging	0.91
R5955:Pcnt	UTSW	10	76,411,622 (GRCm38)	missense	possibly damaging	0.45
R6024:Pcnt	UTSW	10	76,420,037 (GRCm38)	missense	possibly damaging	0.87
R6267:Pcnt	UTSW	10	76,385,798 (GRCm38)	missense	probably benign	0.02
R6485:Pcnt	UTSW	10	76,389,330 (GRCm38)	nonsense	probably null
R6605:Pcnt	UTSW	10	76,429,198 (GRCm38)	critical splice donor site	probably null
R6877:Pcnt	UTSW	10	76,434,017 (GRCm38)	missense	possibly damaging	0.94
R6882:Pcnt	UTSW	10	76,427,828 (GRCm38)	missense	probably benign	0.00
R6919:Pcnt	UTSW	10	76,385,798 (GRCm38)	missense	probably benign	0.02
R7025:Pcnt	UTSW	10	76,403,835 (GRCm38)	missense	probably damaging	1.00
R7098:Pcnt	UTSW	10	76,384,839 (GRCm38)	missense	probably benign
R7109:Pcnt	UTSW	10	76,369,904 (GRCm38)	missense	probably damaging	1.00
R7121:Pcnt	UTSW	10	76,427,927 (GRCm38)	missense	possibly damaging	0.73
R7143:Pcnt	UTSW	10	76,389,060 (GRCm38)	missense	possibly damaging	0.47
R7152:Pcnt	UTSW	10	76,411,360 (GRCm38)	splice site	probably null
R7213:Pcnt	UTSW	10	76,408,904 (GRCm38)	missense	probably damaging	1.00
R7368:Pcnt	UTSW	10	76,400,001 (GRCm38)	missense	probably benign
R7453:Pcnt	UTSW	10	76,389,450 (GRCm38)	missense	probably benign
R7486:Pcnt	UTSW	10	76,418,437 (GRCm38)	missense	probably benign
R7486:Pcnt	UTSW	10	76,418,436 (GRCm38)	missense	probably benign	0.03
R7538:Pcnt	UTSW	10	76,399,939 (GRCm38)	missense	probably benign
R7575:Pcnt	UTSW	10	76,389,252 (GRCm38)	missense	probably benign	0.32
R7662:Pcnt	UTSW	10	76,387,522 (GRCm38)	missense	probably benign	0.27
R7685:Pcnt	UTSW	10	76,422,808 (GRCm38)	missense	probably benign	0.14
R7764:Pcnt	UTSW	10	76,354,248 (GRCm38)	missense	probably benign	0.33
R7802:Pcnt	UTSW	10	76,375,303 (GRCm38)	splice site	probably null
R8432:Pcnt	UTSW	10	76,420,205 (GRCm38)	missense	probably damaging	1.00
R8439:Pcnt	UTSW	10	76,420,205 (GRCm38)	missense	probably damaging	1.00
R8493:Pcnt	UTSW	10	76,403,623 (GRCm38)	critical splice donor site	probably null
R8530:Pcnt	UTSW	10	76,420,205 (GRCm38)	missense	probably damaging	1.00
R8535:Pcnt	UTSW	10	76,420,205 (GRCm38)	missense	probably damaging	1.00
R8830:Pcnt	UTSW	10	76,382,174 (GRCm38)	missense	probably benign	0.03
R8878:Pcnt	UTSW	10	76,408,841 (GRCm38)	missense	probably damaging	1.00
R8911:Pcnt	UTSW	10	76,387,525 (GRCm38)	missense	probably damaging	0.98
R8988:Pcnt	UTSW	10	76,409,573 (GRCm38)	nonsense	probably null
R9084:Pcnt	UTSW	10	76,399,992 (GRCm38)	missense	probably benign	0.09
R9169:Pcnt	UTSW	10	76,385,738 (GRCm38)	missense	possibly damaging	0.95
R9372:Pcnt	UTSW	10	76,423,126 (GRCm38)	missense	probably damaging	1.00
R9411:Pcnt	UTSW	10	76,423,062 (GRCm38)	missense	probably damaging	0.96
R9448:Pcnt	UTSW	10	76,420,526 (GRCm38)	missense	probably damaging	0.99
R9459:Pcnt	UTSW	10	76,392,738 (GRCm38)	missense	probably damaging	1.00
R9479:Pcnt	UTSW	10	76,382,129 (GRCm38)	missense	probably benign	0.00
R9503:Pcnt	UTSW	10	76,428,048 (GRCm38)	missense	possibly damaging	0.59
R9561:Pcnt	UTSW	10	76,381,294 (GRCm38)	nonsense	probably null
R9618:Pcnt	UTSW	10	76,352,960 (GRCm38)	missense	probably damaging	1.00
R9648:Pcnt	UTSW	10	76,354,255 (GRCm38)	missense	probably benign	0.32
R9733:Pcnt	UTSW	10	76,401,480 (GRCm38)	missense	probably benign	0.01
Z1176:Pcnt	UTSW	10	76,382,157 (GRCm38)	nonsense	probably null
Z1177:Pcnt	UTSW	10	76,399,968 (GRCm38)	missense	probably benign	0.00

Posted On

2013-12-09