Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Pcnt'

659208

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m239Asp, m275Asp, Pcnt2

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76351263-76442786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76420205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 734 (R734W)

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: R734W

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

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: R734W

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: R734W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,338,502 (GRCm38)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,948,631 (GRCm38)	S1154T	probably benign	Het
Bsn	G	A	9: 108,111,452 (GRCm38)	A2367V	probably benign	Het
Cd163l1	G	A	7: 140,224,721 (GRCm38)	V546M	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm38)	S2434T	possibly damaging	Het
Crybg2	T	C	4: 134,081,203 (GRCm38)	S1372P	probably damaging	Het
Dock5	A	G	14: 67,793,976 (GRCm38)	Y1002H	probably benign	Het
Dst	T	C	1: 34,186,001 (GRCm38)	S1163P	probably damaging	Het
Dusp27	T	C	1: 166,101,161 (GRCm38)	D294G	probably benign	Het
Fah	A	T	7: 84,601,097 (GRCm38)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,454,546 (GRCm38)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm38)	L37F	probably damaging	Het
Gm10750	A	G	2: 149,015,968 (GRCm38)	V121A	unknown	Het
Klhl25	G	A	7: 75,866,095 (GRCm38)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,819,515 (GRCm38)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,435,154 (GRCm38)	D353V	probably damaging	Het
Myh8	G	A	11: 67,278,915 (GRCm38)	R20Q	probably damaging	Het
Olfr1262	G	A	2: 90,003,167 (GRCm38)	V254M	probably benign	Het
Olfr764-ps1	T	C	10: 129,034,023 (GRCm38)	Y273C	probably damaging	Het
Pkn3	A	T	2: 30,079,924 (GRCm38)		probably null	Het
Ptpn21	T	A	12: 98,680,026 (GRCm38)	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,949,088 (GRCm38)		probably null	Het
Sardh	T	A	2: 27,239,645 (GRCm38)	I263F	probably damaging	Het
Sh3bp5	A	G	14: 31,417,418 (GRCm38)	V66A	probably benign	Het
Taf4b	T	A	18: 14,822,138 (GRCm38)	S583T	probably damaging	Het
Tbcb	G	A	7: 30,226,996 (GRCm38)	P132L	probably benign	Het
Tcirg1	A	G	19: 3,896,324 (GRCm38)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,181,826 (GRCm38)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 60,970,968 (GRCm38)	E368G	probably benign	Het
Trdv2-1	T	A	14: 53,946,515 (GRCm38)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,540,371 (GRCm38)	T1849I	probably benign	Het
Vav2	G	A	2: 27,271,829 (GRCm38)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm38)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 14,903,537 (GRCm38)	T558I	possibly damaging	Het
Yeats2	C	T	16: 20,159,176 (GRCm38)	R137W	probably 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
IGL01576:Pcnt	APN	10	76,368,822 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCACTCATTTCCATTCTCAG -3'
(R):5'- ATGCCTTTCTTCGAGACGCC -3'

Sequencing Primer
(F):5'- CAGGCTATCTCTTACGGACTGAAG -3'
(R):5'- CTCTGAGGATGGAGCTTGAAACC -3'

Posted On

2021-01-18