Incidental Mutation 'R0049:Pcnt'
ID 15962
Institutional Source Beutler Lab
Gene Symbol Pcnt
Ensembl Gene ENSMUSG00000001151
Gene Name pericentrin (kendrin)
Synonyms m239Asp, m275Asp, Pcnt2
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0049 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 76351263-76442786 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 76369821 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001179] [ENSMUST00000217838]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000001179
SMART Domains Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151

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 benign
Transcript: ENSMUST00000217838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218747
Predicted Effect probably benign
Transcript: ENSMUST00000219243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220395
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.7%
  • 10x: 82.4%
  • 20x: 74.6%
Validation Efficiency 89% (108/122)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,638,308 (GRCm38) H9L possibly damaging Het
Aars T A 8: 111,052,451 (GRCm38) I739K possibly damaging Het
Acod1 T A 14: 103,055,207 (GRCm38) I389K possibly damaging Het
Akap1 C A 11: 88,839,624 (GRCm38) probably null Het
Anxa7 T C 14: 20,462,610 (GRCm38) D285G probably damaging Het
Arhgap1 T C 2: 91,670,169 (GRCm38) Y308H probably damaging Het
Arhgef11 T A 3: 87,729,193 (GRCm38) probably null Het
Atp6v0a4 G A 6: 38,082,081 (GRCm38) R256C probably damaging Het
Camsap3 C A 8: 3,598,772 (GRCm38) S163R probably benign Het
Ccdc110 A T 8: 45,942,626 (GRCm38) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm38) probably null Het
Ccnt1 T C 15: 98,565,079 (GRCm38) M71V probably benign Het
Celsr2 T A 3: 108,397,254 (GRCm38) Y2263F probably benign Het
Cfap69 T C 5: 5,613,734 (GRCm38) T498A probably benign Het
Clstn3 T A 6: 124,459,853 (GRCm38) I132F possibly damaging Het
Cnot4 A G 6: 35,051,277 (GRCm38) V468A probably benign Het
Crmp1 T G 5: 37,265,273 (GRCm38) D141E possibly damaging Het
Cryz C A 3: 154,611,552 (GRCm38) A136D probably damaging Het
Dcst2 T C 3: 89,371,606 (GRCm38) V550A probably benign Het
Dph6 A G 2: 114,523,044 (GRCm38) V221A probably benign Het
Ecm2 A T 13: 49,524,446 (GRCm38) K403* probably null Het
Eif3d T C 15: 77,959,724 (GRCm38) N474S probably benign Het
F12 T C 13: 55,426,317 (GRCm38) D34G probably benign Het
Fam214b A T 4: 43,036,441 (GRCm38) S97T probably benign Het
Fam228b A T 12: 4,748,117 (GRCm38) F200Y probably damaging Het
Fgl2 T A 5: 21,375,663 (GRCm38) D334E possibly damaging Het
Fras1 T A 5: 96,776,622 (GRCm38) F3641I probably benign Het
Gabrb2 T G 11: 42,593,847 (GRCm38) Y244D probably damaging Het
Gcc1 A T 6: 28,421,269 (GRCm38) D16E probably benign Het
Gm10648 T C 7: 28,861,777 (GRCm38) probably benign Het
Gm6614 T C 6: 141,990,421 (GRCm38) T313A probably benign Het
Gorasp2 T C 2: 70,690,723 (GRCm38) S346P possibly damaging Het
Htt A C 5: 34,908,662 (GRCm38) K3060N probably damaging Het
Ibsp C T 5: 104,302,158 (GRCm38) L8F probably damaging Het
Kif27 A T 13: 58,303,564 (GRCm38) D983E probably damaging Het
Kif3a T A 11: 53,590,733 (GRCm38) probably benign Het
Kif3c A C 12: 3,367,090 (GRCm38) K370N possibly damaging Het
Loxhd1 T C 18: 77,380,560 (GRCm38) probably benign Het
Maz A T 7: 127,024,586 (GRCm38) D74E probably damaging Het
Med21 T C 6: 146,650,234 (GRCm38) S128P probably damaging Het
Mms19 A C 19: 41,955,168 (GRCm38) M374R probably damaging Het
Mrpl3 T C 9: 105,055,673 (GRCm38) V111A probably benign Het
Mtfr2 T A 10: 20,348,412 (GRCm38) Y31N probably damaging Het
Neb A C 2: 52,170,467 (GRCm38) M2286R possibly damaging Het
Ngf A T 3: 102,520,345 (GRCm38) R137* probably null Het
Nr1i3 T A 1: 171,214,413 (GRCm38) V22E probably damaging Het
Nxpe5 T C 5: 138,251,304 (GRCm38) V452A probably damaging Het
Olfr743 A T 14: 50,533,694 (GRCm38) K94M probably damaging Het
Pax3 A G 1: 78,103,504 (GRCm38) L415P probably damaging Het
Peg3 G T 7: 6,711,673 (GRCm38) D183E possibly damaging Het
Pglyrp1 G T 7: 18,889,388 (GRCm38) G120V probably damaging Het
Pomt1 T A 2: 32,252,011 (GRCm38) H584Q possibly damaging Het
Prkcq G A 2: 11,283,832 (GRCm38) G532E probably benign Het
Pwp1 A G 10: 85,885,616 (GRCm38) T361A possibly damaging Het
Rab4a A T 8: 123,827,342 (GRCm38) H5L probably damaging Het
Ramp1 T C 1: 91,196,870 (GRCm38) I51T possibly damaging Het
Raph1 G T 1: 60,525,899 (GRCm38) T143K probably benign Het
Rhpn1 A G 15: 75,709,239 (GRCm38) E110G possibly damaging Het
Rnf168 A T 16: 32,298,469 (GRCm38) T283S possibly damaging Het
Ros1 T A 10: 52,101,761 (GRCm38) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,921,434 (GRCm38) Q223R probably null Het
Rtp4 G T 16: 23,612,929 (GRCm38) M70I probably benign Het
Sag C A 1: 87,834,618 (GRCm38) T335K probably damaging Het
Sgo1 C T 17: 53,679,663 (GRCm38) D167N probably damaging Het
St6gal1 G T 16: 23,321,141 (GRCm38) A21S probably damaging Het
Stard9 C A 2: 120,699,819 (GRCm38) L2186I probably damaging Het
Sun2 T A 15: 79,727,609 (GRCm38) probably benign Het
Taf4 G A 2: 179,924,091 (GRCm38) T849M probably damaging Het
Taok2 G A 7: 126,866,411 (GRCm38) H404Y possibly damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm38) I72V probably damaging Het
Trav1 T A 14: 52,428,698 (GRCm38) S52T probably damaging Het
Trim30a C T 7: 104,429,352 (GRCm38) probably null Het
Tro T C X: 150,654,569 (GRCm38) N364S possibly damaging Het
Tshz3 A G 7: 36,770,109 (GRCm38) T508A probably damaging Het
Ttc21b A G 2: 66,223,564 (GRCm38) L757P probably damaging Het
Vmn1r218 C T 13: 23,137,055 (GRCm38) Q111* probably null Het
Vmn2r75 G A 7: 86,148,101 (GRCm38) Q835* probably null Het
Xcr1 T A 9: 123,855,875 (GRCm38) D274V possibly damaging Het
Ypel5 C T 17: 72,846,337 (GRCm38) T12I probably benign Het
Other mutations in Pcnt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-01-08