Mutagenetix > Incidental Mutation

Incidental Mutation 'R5714:Pcnt'

451056

Institutional Source

Beutler Lab

Gene Symbol

Pcnt

Ensembl Gene

ENSMUSG00000001151

Gene Name

pericentrin (kendrin)

Synonyms

m275Asp, m239Asp, Pcnt2

MMRRC Submission

043186-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76187097-76278620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76256325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 638 (D638E)

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: D638E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D638E

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: D638E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220395

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	T	18: 65,438,532 (GRCm39)	Q1421K	possibly damaging	Het
Ankub1	G	A	3: 57,580,258 (GRCm39)	T133M	probably benign	Het
Bcar3	G	A	3: 122,248,736 (GRCm39)	V112M	possibly damaging	Het
Cacna1s	A	G	1: 136,039,804 (GRCm39)	K1476R	probably benign	Het
Cdc42ep1	C	A	15: 78,733,977 (GRCm39)	A359E	possibly damaging	Het
Cemip	T	A	7: 83,624,387 (GRCm39)	D483V	probably damaging	Het
Cyp4f39	G	A	17: 32,700,799 (GRCm39)	R156H	probably damaging	Het
Dpys	T	A	15: 39,720,553 (GRCm39)	H69L	probably damaging	Het
Fbxl21	A	G	13: 56,674,885 (GRCm39)	I79V	probably benign	Het
Fgf9	T	C	14: 58,347,022 (GRCm39)	L205P	probably damaging	Het
Fkbp14	A	G	6: 54,562,835 (GRCm39)	F144L	probably damaging	Het
Flnb	A	C	14: 7,929,073 (GRCm38)	D1934A	probably damaging	Het
Garre1	G	A	7: 33,939,941 (GRCm39)	Q717*	probably null	Het
Glul	T	C	1: 153,782,243 (GRCm39)		probably benign	Het
Helz	T	A	11: 107,517,347 (GRCm39)		probably null	Het
Kap	A	G	6: 133,828,956 (GRCm39)	Y42H	probably benign	Het
Kcnh8	T	C	17: 53,285,150 (GRCm39)	V1040A	probably benign	Het
Kptn	A	G	7: 15,854,683 (GRCm39)		probably null	Het
Lypd3	A	G	7: 24,338,494 (GRCm39)	T182A	possibly damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mios	T	A	6: 8,215,434 (GRCm39)	I210K	probably damaging	Het
Nat8f2	A	G	6: 85,844,891 (GRCm39)	V157A	probably benign	Het
Or1e16	T	A	11: 73,286,187 (GRCm39)		probably null	Het
Pard3b	C	A	1: 62,677,075 (GRCm39)	A1140E	probably null	Het
Pdgfra	T	C	5: 75,346,673 (GRCm39)	I834T	probably damaging	Het
Phyhd1	T	A	2: 30,169,994 (GRCm39)	L162H	probably damaging	Het
Polg	C	A	7: 79,101,739 (GRCm39)	A1026S	possibly damaging	Het
Prl7c1	A	T	13: 27,962,949 (GRCm39)	L18*	probably null	Het
Rars2	T	A	4: 34,645,779 (GRCm39)	M232K	probably benign	Het
Rtl1	A	G	12: 109,560,114 (GRCm39)	V575A	probably damaging	Het
Slc18b1	A	T	10: 23,674,664 (GRCm39)	T40S	probably benign	Het
Slc22a19	T	C	19: 7,688,387 (GRCm39)	T58A	probably damaging	Het
Slc27a6	A	T	18: 58,731,625 (GRCm39)	E325V	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Srd5a3	T	A	5: 76,301,413 (GRCm39)	F214Y	probably benign	Het
Tgfbr2	A	T	9: 116,004,092 (GRCm39)	L5Q	probably damaging	Het
Tmem94	C	A	11: 115,684,016 (GRCm39)	Q779K	probably benign	Het
Ttn	G	A	2: 76,652,837 (GRCm39)	P216S	probably benign	Het
Ush2a	A	T	1: 188,132,454 (GRCm39)	Q892L	probably benign	Het
Vgll4	A	T	6: 114,867,737 (GRCm39)	M38K	possibly damaging	Het
Vmn2r109	A	G	17: 20,773,121 (GRCm39)	I500T	probably damaging	Het
Vps33a	T	C	5: 123,707,563 (GRCm39)	I135V	probably benign	Het
Wscd1	T	C	11: 71,675,261 (GRCm39)		probably null	Het
Zfp457	C	A	13: 67,444,490 (GRCm39)	M4I	possibly damaging	Het
Zfp532	G	A	18: 65,756,606 (GRCm39)	G180R	possibly damaging	Het
Zfp97	A	G	17: 17,365,871 (GRCm39)	T457A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCGCTAATTTCAGCATTGTG -3'
(R):5'- TCTGAGGGAAGGTTCAAATCCAG -3'

Sequencing Primer
(F):5'- AGCATTGTGTTTTACCTGCAGC -3'
(R):5'- TTCAAATCCAGGATTGAGGCAGC -3'

Posted On

2017-01-03