Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03395:Pcnt'

421231

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 #

IGL03395

Quality Score

Status

Chromosome

Chromosomal Location

76187097-76278620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76272325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 177 (E177G)

Ref Sequence

ENSEMBL: ENSMUSP00000001179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001179] [ENSMUST00000217838]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001179
AA Change: E177G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: E177G

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

possibly damaging
Transcript: ENSMUST00000217838
AA Change: E177G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,746 (GRCm39)	D308G	probably damaging	Het
Adgrg3	A	T	8: 95,761,701 (GRCm39)	I155F	probably damaging	Het
Ado	T	C	10: 67,384,368 (GRCm39)	Y79C	probably benign	Het
Aox1	T	C	1: 58,107,884 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,734 (GRCm39)	D165E	probably damaging	Het
Ccdc124	A	C	8: 71,321,251 (GRCm39)	M163R	probably benign	Het
Ceacam5	T	C	7: 17,479,304 (GRCm39)		probably benign	Het
Cenpq	A	G	17: 41,234,449 (GRCm39)	L247P	probably damaging	Het
Crat	A	G	2: 30,294,978 (GRCm39)	V479A	probably benign	Het
Egfr	T	C	11: 16,860,261 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Emc9	C	T	14: 55,822,197 (GRCm39)	A72T	probably benign	Het
Fbxo5	G	A	10: 5,751,935 (GRCm39)	S226F	probably benign	Het
Gm42688	A	C	6: 83,085,352 (GRCm39)	E737D	possibly damaging	Het
Got1l1	G	T	8: 27,690,885 (GRCm39)	H54Q	probably benign	Het
Grid2	G	A	6: 63,886,053 (GRCm39)	V150I	possibly damaging	Het
Klc4	C	T	17: 46,943,789 (GRCm39)	V506M	probably damaging	Het
Lrrc8c	A	G	5: 105,754,495 (GRCm39)	N90S	probably benign	Het
Lrrk2	T	A	15: 91,681,617 (GRCm39)		probably null	Het
Mbd6	G	A	10: 127,119,286 (GRCm39)	R950C	probably damaging	Het
Nol11	A	G	11: 107,066,548 (GRCm39)	V414A	probably benign	Het
Or7e178	A	T	9: 20,225,847 (GRCm39)	M123K	probably damaging	Het
Pcnx2	G	T	8: 126,614,262 (GRCm39)	D396E	probably benign	Het
Pcyt2	A	T	11: 120,503,876 (GRCm39)		probably null	Het
Pds5a	T	C	5: 65,809,792 (GRCm39)	D390G	possibly damaging	Het
Pik3r2	T	C	8: 71,224,999 (GRCm39)	T155A	probably benign	Het
Rab31	T	A	17: 66,003,362 (GRCm39)	H95L	probably benign	Het
Rfx5	C	T	3: 94,865,113 (GRCm39)	R259*	probably null	Het
Slc6a17	T	C	3: 107,384,622 (GRCm39)	D285G	probably damaging	Het
Spats2l	A	T	1: 57,977,175 (GRCm39)	I318F	probably damaging	Het
Spef1l	G	T	7: 139,556,589 (GRCm39)		probably benign	Het
Tcf12	A	G	9: 71,783,304 (GRCm39)	S361P	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
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
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

2016-08-02