Incidental Mutation 'R4946:Pcnt'
ID 383428
Institutional Source Beutler Lab
Gene Symbol Pcnt
Ensembl Gene ENSMUSG00000001151
Gene Name pericentrin (kendrin)
Synonyms m275Asp, m239Asp, Pcnt2
MMRRC Submission 042543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 76187097-76278620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76192019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 2764 (R2764Q)
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: R2782Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: R2782Q

DomainStartEndE-ValueType
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: R2764Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219011
Predicted Effect unknown
Transcript: ENSMUST00000219243
AA Change: E150K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220395
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,977,300 (GRCm39) D98G probably damaging Het
Adgre1 G A 17: 57,750,918 (GRCm39) V531I probably benign Het
Aldoart2 A G 12: 55,612,801 (GRCm39) Q242R probably benign Het
Ank2 A T 3: 126,735,589 (GRCm39) probably benign Het
Ank3 C T 10: 69,733,947 (GRCm39) A737V probably damaging Het
Ankle2 A G 5: 110,401,704 (GRCm39) I789V probably benign Het
Ankrd13c T C 3: 157,711,410 (GRCm39) V510A probably damaging Het
Arid1b T A 17: 5,393,118 (GRCm39) M2216K probably damaging Het
Arrdc1 A G 2: 24,815,860 (GRCm39) V380A probably benign Het
B3galt1 C A 2: 67,948,913 (GRCm39) N209K possibly damaging Het
Cd300c2 A T 11: 114,887,731 (GRCm39) C224S probably benign Het
Cdk4 T C 10: 126,900,759 (GRCm39) probably null Het
Cdk5rap1 T C 2: 154,210,794 (GRCm39) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm39) R92* probably null Het
Cnga1 A G 5: 72,762,107 (GRCm39) V469A probably damaging Het
Ctns A G 11: 73,087,479 (GRCm39) F16L probably benign Het
Dlg5 A T 14: 24,204,429 (GRCm39) C1299S probably damaging Het
Dnah3 T A 7: 119,530,783 (GRCm39) Y3690F probably damaging Het
Dnah5 A G 15: 28,326,703 (GRCm39) M1971V probably damaging Het
Dnah5 G A 15: 28,388,050 (GRCm39) V3170M probably damaging Het
Dpp8 T C 9: 64,963,200 (GRCm39) Y485H probably benign Het
Dsc2 T C 18: 20,183,214 (GRCm39) D68G probably damaging Het
Eeig2 A G 3: 108,887,544 (GRCm39) V240A probably benign Het
Elavl1 A T 8: 4,351,752 (GRCm39) D121E probably benign Het
Ermap A G 4: 119,040,505 (GRCm39) V311A probably damaging Het
Fbxw11 C T 11: 32,689,226 (GRCm39) R437C probably damaging Het
Gas2l3 T C 10: 89,249,634 (GRCm39) M495V probably benign Het
Hacd1 C T 2: 14,049,948 (GRCm39) probably null Het
Itgav A G 2: 83,619,327 (GRCm39) R596G probably benign Het
Kars1 T C 8: 112,728,352 (GRCm39) H215R possibly damaging Het
Kif26a G A 12: 112,144,228 (GRCm39) R1494H probably damaging Het
Klf12 G A 14: 100,260,393 (GRCm39) S112L possibly damaging Het
Krt77 T C 15: 101,777,998 (GRCm39) Y19C unknown Het
Lrrc4c A G 2: 97,460,834 (GRCm39) T487A probably benign Het
Lrrn1 A G 6: 107,545,851 (GRCm39) M550V probably benign Het
Lsr C A 7: 30,657,634 (GRCm39) R442L probably benign Het
Lysmd2 A C 9: 75,542,728 (GRCm39) T112P probably damaging Het
Mctp2 A T 7: 71,909,017 (GRCm39) S99T probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mill2 T A 7: 18,590,608 (GRCm39) probably null Het
Mpp3 T C 11: 101,895,848 (GRCm39) N476D probably benign Het
Mtmr6 C T 14: 60,517,638 (GRCm39) P83L possibly damaging Het
Myh3 T C 11: 66,984,364 (GRCm39) I1067T probably benign Het
Myh9 C A 15: 77,657,540 (GRCm39) Q1068H probably damaging Het
Narf T A 11: 121,141,179 (GRCm39) H304Q possibly damaging Het
Nfatc2ip G T 7: 125,995,784 (GRCm39) P35Q possibly damaging Het
Npas3 C A 12: 54,112,618 (GRCm39) P426Q probably damaging Het
Or10aa3 T G 1: 173,878,400 (GRCm39) S154A possibly damaging Het
Or4e1 G A 14: 52,700,740 (GRCm39) T242I probably damaging Het
Or4f4b T C 2: 111,314,311 (GRCm39) Y207H possibly damaging Het
Or51i1 T A 7: 103,671,219 (GRCm39) Q102L probably damaging Het
Or5p5 A G 7: 107,414,589 (GRCm39) H266R possibly damaging Het
Pcdh10 A T 3: 45,333,917 (GRCm39) E77V probably damaging Het
Pgbd5 T C 8: 125,097,324 (GRCm39) D493G possibly damaging Het
Piezo2 G T 18: 63,290,333 (GRCm39) T142N probably benign Het
Plcb1 A G 2: 135,187,015 (GRCm39) I761V probably benign Het
Plekhg4 T G 8: 106,108,628 (GRCm39) D1196E probably null Het
Pparg A G 6: 115,427,989 (GRCm39) K159E probably damaging Het
Psmb1 A T 17: 15,718,478 (GRCm39) M16K probably benign Het
Ptprq T C 10: 107,361,595 (GRCm39) I2139V probably benign Het
Ralgapb T A 2: 158,282,887 (GRCm39) S239T probably damaging Het
Serpina11 A G 12: 103,950,923 (GRCm39) V266A probably damaging Het
Sf3a2 C G 10: 80,639,947 (GRCm39) probably benign Het
Smim18 T C 8: 34,232,587 (GRCm39) T11A possibly damaging Het
Snx6 G A 12: 54,817,528 (GRCm39) T7I probably damaging Het
Srcin1 T A 11: 97,442,768 (GRCm39) D75V probably damaging Het
Srsf12 T A 4: 33,231,174 (GRCm39) S223T probably damaging Het
Taf4b G T 18: 14,946,599 (GRCm39) C474F probably damaging Het
Tango6 T A 8: 107,444,722 (GRCm39) C542* probably null Het
Tbc1d24 A G 17: 24,427,510 (GRCm39) S151P possibly damaging Het
Tssk6 T C 8: 70,355,714 (GRCm39) S253P probably benign Het
Ttc39c G A 18: 12,857,999 (GRCm39) W300* probably null Het
Ttc6 T A 12: 57,689,926 (GRCm39) W539R probably benign Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ttn C A 2: 76,749,053 (GRCm39) E3999* probably null Het
Vill T G 9: 118,897,508 (GRCm39) L261R probably damaging Het
Vmn1r20 T C 6: 57,409,159 (GRCm39) S162P probably damaging Het
Zfp516 T C 18: 82,974,219 (GRCm39) I139T probably benign Het
Other mutations in Pcnt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATGGCTTTCCTGGCAAATGG -3'
(R):5'- GCTGTACCTGCACTATCTGAG -3'

Sequencing Primer
(F):5'- CCAGGGACAGCATGAATCTGTTTC -3'
(R):5'- AAACGCTCTCCATGATCG -3'
Posted On 2016-04-27