Incidental Mutation 'R5668:Pcnt'
ID 442455
Institutional Source Beutler Lab
Gene Symbol Pcnt
Ensembl Gene ENSMUSG00000001151
Gene Name pericentrin (kendrin)
Synonyms m275Asp, m239Asp, Pcnt2
MMRRC Submission 043311-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5668 (G1)
Quality Score 169
Status Validated
Chromosome 10
Chromosomal Location 76187097-76278620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76245334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1101 (D1101G)
Ref Sequence ENSEMBL: ENSMUSP00000151534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001179] [ENSMUST00000217838]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000001179
AA Change: D1101G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: D1101G

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
AA Change: D1101G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220395
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (84/85)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,603,975 (GRCm39) W429R probably damaging Het
Afg1l C T 10: 42,236,236 (GRCm39) C272Y probably damaging Het
Agrn T C 4: 156,251,770 (GRCm39) T1831A probably damaging Het
Aifm2 T C 10: 61,561,696 (GRCm39) V14A probably damaging Het
Angptl3 A T 4: 98,920,321 (GRCm39) probably null Het
Arfgap1 A T 2: 180,615,912 (GRCm39) D197V possibly damaging Het
Atp1a3 T C 7: 24,678,294 (GRCm39) probably benign Het
Brwd1 T C 16: 95,817,350 (GRCm39) I1387M probably damaging Het
Cavin4 A G 4: 48,672,499 (GRCm39) T315A probably benign Het
Cep128 T C 12: 90,966,410 (GRCm39) T1066A probably benign Het
Cln3 T C 7: 126,171,558 (GRCm39) T376A probably benign Het
Cntn4 A T 6: 106,656,397 (GRCm39) silent Het
Colec12 T A 18: 9,848,963 (GRCm39) D380E probably damaging Het
Csmd3 T C 15: 47,559,151 (GRCm39) I2371V possibly damaging Het
Cspg4b A G 13: 113,453,701 (GRCm39) S55G possibly damaging Het
Cxcl3 T C 5: 90,935,299 (GRCm39) S99P unknown Het
Ddx60 A G 8: 62,453,612 (GRCm39) R1244G probably benign Het
Dhx38 T C 8: 110,280,048 (GRCm39) D914G probably damaging Het
Dlc1 T G 8: 37,404,655 (GRCm39) probably benign Het
Eif4a3l1 A T 6: 136,306,393 (GRCm39) I264F probably benign Het
Fam161b A G 12: 84,403,124 (GRCm39) S169P probably damaging Het
Fastkd1 A G 2: 69,537,725 (GRCm39) S286P possibly damaging Het
Fmn2 A T 1: 174,409,603 (GRCm39) E612V unknown Het
Foxb1 T A 9: 69,667,528 (GRCm39) M1L probably damaging Het
Gm14412 A T 2: 177,007,402 (GRCm39) C164* probably null Het
Gm43302 T A 5: 105,423,678 (GRCm39) M432L probably benign Het
Gm4353 C A 7: 115,682,913 (GRCm39) A223S probably damaging Het
Gpatch8 T C 11: 102,391,693 (GRCm39) K143R unknown Het
Gpr15 A G 16: 58,538,013 (GRCm39) S359P probably damaging Het
Gucy2e A G 11: 69,119,207 (GRCm39) L649P probably damaging Het
H2-M10.5 C A 17: 37,085,473 (GRCm39) H211N probably damaging Het
Hs6st1 T C 1: 36,142,970 (GRCm39) Y302H probably damaging Het
Khdrbs2 A T 1: 32,506,851 (GRCm39) D165V probably damaging Het
Klra13-ps T G 6: 130,281,246 (GRCm39) noncoding transcript Het
Lrrc37 T A 11: 103,507,880 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,391,001 (GRCm39) T1475S probably benign Het
Ly75 A G 2: 60,184,844 (GRCm39) S437P probably damaging Het
Maz C T 7: 126,624,494 (GRCm39) C342Y probably damaging Het
Mcf2l C A 8: 13,063,812 (GRCm39) S1008* probably null Het
Mcmbp T C 7: 128,314,478 (GRCm39) D246G probably benign Het
Mipol1 G A 12: 57,372,346 (GRCm39) R135H possibly damaging Het
Mycbp2 T A 14: 103,357,955 (GRCm39) Y4613F possibly damaging Het
Nup188 G A 2: 30,226,336 (GRCm39) A1118T probably damaging Het
Or10g6 A T 9: 39,933,964 (GRCm39) I92F probably damaging Het
Or2k2 T A 4: 58,785,489 (GRCm39) I78F probably benign Het
Or4a76 G A 2: 89,460,688 (GRCm39) L185F probably damaging Het
Or4c121 A T 2: 89,024,170 (GRCm39) D69E possibly damaging Het
Or4z4 A G 19: 12,076,290 (GRCm39) S238P probably damaging Het
Or51f1e A T 7: 102,747,103 (GRCm39) S52C probably benign Het
Or51h7 T C 7: 102,591,128 (GRCm39) K219E probably benign Het
P3h1 T A 4: 119,101,243 (GRCm39) I460N possibly damaging Het
Phlpp2 C A 8: 110,655,205 (GRCm39) Q667K possibly damaging Het
Plec A G 15: 76,074,666 (GRCm39) F434L possibly damaging Het
Ppp6r2 T A 15: 89,164,602 (GRCm39) I602N probably damaging Het
Rdh8 A C 9: 20,736,475 (GRCm39) I181L probably benign Het
Rnf181 A G 6: 72,338,505 (GRCm39) M1T probably null Het
Rpl29-ps2 A G 13: 4,664,221 (GRCm39) noncoding transcript Het
Sart3 A G 5: 113,883,217 (GRCm39) probably null Het
Sec14l2 A C 11: 4,059,189 (GRCm39) L160R probably damaging Het
Senp1 C T 15: 97,946,236 (GRCm39) R503H probably damaging Het
Shoc1 A G 4: 59,047,399 (GRCm39) S1407P probably benign Het
Slc22a2 T C 17: 12,827,296 (GRCm39) V316A probably benign Het
Slc34a1 A T 13: 55,556,898 (GRCm39) I365F possibly damaging Het
Spag5 T C 11: 78,195,542 (GRCm39) V283A possibly damaging Het
Srebf2 C T 15: 82,076,456 (GRCm39) T702I probably benign Het
Sun3 A G 11: 8,981,433 (GRCm39) probably null Het
Syt6 A G 3: 103,528,217 (GRCm39) Y312C probably damaging Het
Tas2r121 T A 6: 132,677,756 (GRCm39) Y72F possibly damaging Het
Tfrc A G 16: 32,442,194 (GRCm39) Y473C probably damaging Het
Trp63 C T 16: 25,684,935 (GRCm39) A274V possibly damaging Het
Trpm5 T C 7: 142,626,966 (GRCm39) D1085G probably benign Het
Ttn A G 2: 76,745,008 (GRCm39) V5347A probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vma21-ps T A 4: 52,496,946 (GRCm39) Q100L possibly damaging Het
Vmn2r22 T C 6: 123,614,873 (GRCm39) N239S probably benign Het
Wfdc8 T C 2: 164,439,339 (GRCm39) probably benign Het
Xkr4 T A 1: 3,741,258 (GRCm39) Y105F probably damaging Het
Xpo7 C T 14: 70,920,286 (GRCm39) V627I possibly damaging Het
Zfp606 T C 7: 12,226,479 (GRCm39) V200A probably benign Het
Zfp936 A T 7: 42,839,858 (GRCm39) S441C possibly damaging 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
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
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'- AAGGTCTGGTTAAGCAGTTTGC -3'
(R):5'- GTGACTCAGATATTAACAAGTTCCCC -3'

Sequencing Primer
(F):5'- GCAGTTTGCTGTTAAAGACCC -3'
(R):5'- ACCCTCTGTATCTTCCTGTATGTAG -3'
Posted On 2016-11-09