Incidental Mutation 'R5250:Pcm1'
ID 398946
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 042821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5250 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41765242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1484 (E1484D)
Ref Sequence ENSEMBL: ENSMUSP00000039709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]
AlphaFold Q9R0L6
Predicted Effect probably damaging
Transcript: ENSMUST00000045218
AA Change: E1484D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: E1484D

DomainStartEndE-ValueType
coiled coil region 218 238 N/A INTRINSIC
coiled coil region 270 301 N/A INTRINSIC
coiled coil region 399 426 N/A INTRINSIC
coiled coil region 492 520 N/A INTRINSIC
low complexity region 527 548 N/A INTRINSIC
low complexity region 622 647 N/A INTRINSIC
coiled coil region 652 683 N/A INTRINSIC
coiled coil region 724 772 N/A INTRINSIC
coiled coil region 822 856 N/A INTRINSIC
coiled coil region 988 1017 N/A INTRINSIC
low complexity region 1021 1033 N/A INTRINSIC
low complexity region 1287 1301 N/A INTRINSIC
Pfam:PCM1_C 1369 1999 3.6e-295 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211247
AA Change: E1523D

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,135,182 (GRCm39) K236* probably null Het
Adgre5 A G 8: 84,460,069 (GRCm39) V109A probably benign Het
Adora2a T C 10: 75,161,882 (GRCm39) I7T probably damaging Het
Ankrd6 A G 4: 32,860,335 (GRCm39) V36A probably damaging Het
Arhgef2 T C 3: 88,540,955 (GRCm39) probably null Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg2b G A 12: 105,602,024 (GRCm39) R1651W probably damaging Het
Atp6v0a1 T A 11: 100,933,870 (GRCm39) V553D possibly damaging Het
Bard1 G A 1: 71,113,722 (GRCm39) L420F probably damaging Het
Bcat1 C G 6: 144,993,165 (GRCm39) probably null Het
Bpifb5 A T 2: 154,066,881 (GRCm39) N45Y probably benign Het
Btbd17 G T 11: 114,682,234 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Col11a1 A G 3: 114,010,819 (GRCm39) probably benign Het
Cspg4b A G 13: 113,456,305 (GRCm39) N784D possibly damaging Het
Dhx38 A T 8: 110,283,152 (GRCm39) V555D probably damaging Het
Dixdc1 T G 9: 50,595,035 (GRCm39) E230A possibly damaging Het
Dnah7b T G 1: 46,412,514 (GRCm39) V4041G probably damaging Het
Dnhd1 A T 7: 105,334,968 (GRCm39) I1021L probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Flt4 T A 11: 49,521,227 (GRCm39) I412N possibly damaging Het
Gabrb1 A G 5: 72,026,922 (GRCm39) I141V possibly damaging Het
Gpc2 A G 5: 138,277,230 (GRCm39) Y66H probably damaging Het
Hoxd3 C T 2: 74,574,650 (GRCm39) Q99* probably null Het
Inpp5d T C 1: 87,637,397 (GRCm39) V781A probably damaging Het
Larp4b T C 13: 9,221,013 (GRCm39) probably benign Het
Lrrfip1 T A 1: 91,043,618 (GRCm39) S674R possibly damaging Het
Megf6 A G 4: 154,340,467 (GRCm39) T561A possibly damaging Het
Mpo A T 11: 87,694,259 (GRCm39) Q83L probably benign Het
Mucl2 T C 15: 103,927,733 (GRCm39) N75D possibly damaging Het
Myh13 C T 11: 67,218,085 (GRCm39) Q53* probably null Het
Myot T A 18: 44,479,137 (GRCm39) D291E probably damaging Het
Nae1 A G 8: 105,257,023 (GRCm39) probably null Het
Ncoa2 A T 1: 13,294,913 (GRCm39) S2R probably damaging Het
Nktr T A 9: 121,578,858 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,842,869 (GRCm39) probably benign Het
Or10aa3 T G 1: 173,878,838 (GRCm39) F300V probably benign Het
Or14j4 A G 17: 37,920,851 (GRCm39) S264P probably damaging Het
Or5an1b T C 19: 12,299,430 (GRCm39) T254A probably benign Het
P2rx2 T C 5: 110,489,454 (GRCm39) E160G probably damaging Het
Pcdhga11 A T 18: 37,890,990 (GRCm39) D666V probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Potefam1 T G 2: 111,058,422 (GRCm39) T124P possibly damaging Het
Ppm1e T C 11: 87,121,744 (GRCm39) I738V probably benign Het
Ppp1r13b G T 12: 111,811,394 (GRCm39) R165S probably benign Het
Rasgrp2 T C 19: 6,454,343 (GRCm39) W129R probably damaging Het
Smurf2 A G 11: 106,747,005 (GRCm39) probably null Het
Spmap1 C A 11: 97,663,553 (GRCm39) W99L possibly damaging Het
Ubr2 G T 17: 47,241,368 (GRCm39) Q1729K probably benign Het
Zfp260 T A 7: 29,804,392 (GRCm39) H97Q probably damaging Het
Zfp429 G T 13: 67,538,638 (GRCm39) R269S probably benign Het
Zfp568 T C 7: 29,716,655 (GRCm39) V185A probably benign Het
Other mutations in Pcm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Pcm1 APN 8 41,727,314 (GRCm39) missense probably damaging 1.00
IGL00852:Pcm1 APN 8 41,740,858 (GRCm39) missense probably damaging 1.00
IGL00896:Pcm1 APN 8 41,729,160 (GRCm39) missense possibly damaging 0.70
IGL00927:Pcm1 APN 8 41,740,918 (GRCm39) missense probably damaging 1.00
IGL01085:Pcm1 APN 8 41,762,640 (GRCm39) missense probably damaging 1.00
IGL01684:Pcm1 APN 8 41,710,960 (GRCm39) missense probably benign 0.00
IGL01888:Pcm1 APN 8 41,710,993 (GRCm39) missense probably damaging 0.98
IGL02349:Pcm1 APN 8 41,741,192 (GRCm39) critical splice donor site probably null
IGL02562:Pcm1 APN 8 41,778,405 (GRCm39) missense probably damaging 1.00
IGL02807:Pcm1 APN 8 41,783,919 (GRCm39) missense probably damaging 1.00
IGL03081:Pcm1 APN 8 41,728,097 (GRCm39) missense probably damaging 1.00
R0090_Pcm1_148 UTSW 8 41,709,078 (GRCm39) missense probably damaging 0.99
R1534_pcm1_826 UTSW 8 41,740,738 (GRCm39) missense probably benign
R8169_pcm1_970 UTSW 8 41,763,153 (GRCm39) missense possibly damaging 0.58
shaved UTSW 8 41,741,193 (GRCm39) critical splice donor site probably null
D3080:Pcm1 UTSW 8 41,728,976 (GRCm39) missense probably damaging 1.00
P0045:Pcm1 UTSW 8 41,741,134 (GRCm39) missense probably damaging 0.99
R0090:Pcm1 UTSW 8 41,709,078 (GRCm39) missense probably damaging 0.99
R0109:Pcm1 UTSW 8 41,710,974 (GRCm39) missense possibly damaging 0.88
R0373:Pcm1 UTSW 8 41,729,148 (GRCm39) nonsense probably null
R0386:Pcm1 UTSW 8 41,769,060 (GRCm39) missense probably damaging 1.00
R0452:Pcm1 UTSW 8 41,778,942 (GRCm39) missense probably benign 0.25
R0498:Pcm1 UTSW 8 41,746,806 (GRCm39) missense probably benign 0.01
R0528:Pcm1 UTSW 8 41,768,967 (GRCm39) missense probably damaging 1.00
R0587:Pcm1 UTSW 8 41,739,088 (GRCm39) missense probably damaging 0.99
R0635:Pcm1 UTSW 8 41,720,216 (GRCm39) splice site probably benign
R0725:Pcm1 UTSW 8 41,740,848 (GRCm39) missense probably damaging 1.00
R0762:Pcm1 UTSW 8 41,714,057 (GRCm39) missense probably damaging 1.00
R0848:Pcm1 UTSW 8 41,735,720 (GRCm39) missense probably damaging 1.00
R1027:Pcm1 UTSW 8 41,746,482 (GRCm39) splice site probably benign
R1056:Pcm1 UTSW 8 41,774,937 (GRCm39) missense probably damaging 1.00
R1534:Pcm1 UTSW 8 41,740,738 (GRCm39) missense probably benign
R1566:Pcm1 UTSW 8 41,743,810 (GRCm39) missense probably damaging 1.00
R1595:Pcm1 UTSW 8 41,762,672 (GRCm39) missense probably damaging 1.00
R1719:Pcm1 UTSW 8 41,766,396 (GRCm39) missense possibly damaging 0.62
R1816:Pcm1 UTSW 8 41,762,574 (GRCm39) missense probably damaging 0.99
R2177:Pcm1 UTSW 8 41,729,002 (GRCm39) missense probably benign
R2495:Pcm1 UTSW 8 41,746,616 (GRCm39) missense probably benign
R3737:Pcm1 UTSW 8 41,714,080 (GRCm39) nonsense probably null
R3747:Pcm1 UTSW 8 41,785,041 (GRCm39) missense probably benign 0.44
R3763:Pcm1 UTSW 8 41,733,114 (GRCm39) missense probably damaging 1.00
R3764:Pcm1 UTSW 8 41,783,919 (GRCm39) missense probably damaging 1.00
R3798:Pcm1 UTSW 8 41,711,051 (GRCm39) missense possibly damaging 0.66
R3968:Pcm1 UTSW 8 41,778,867 (GRCm39) missense probably damaging 1.00
R4760:Pcm1 UTSW 8 41,740,775 (GRCm39) missense probably damaging 0.99
R4798:Pcm1 UTSW 8 41,746,715 (GRCm39) missense probably damaging 1.00
R5062:Pcm1 UTSW 8 41,712,297 (GRCm39) missense probably damaging 0.99
R5221:Pcm1 UTSW 8 41,741,193 (GRCm39) critical splice donor site probably null
R5466:Pcm1 UTSW 8 41,725,499 (GRCm39) critical splice donor site probably null
R5470:Pcm1 UTSW 8 41,740,720 (GRCm39) missense probably damaging 1.00
R5958:Pcm1 UTSW 8 41,782,016 (GRCm39) missense probably damaging 1.00
R6043:Pcm1 UTSW 8 41,781,815 (GRCm39) missense possibly damaging 0.54
R6179:Pcm1 UTSW 8 41,736,669 (GRCm39) missense probably damaging 0.99
R6186:Pcm1 UTSW 8 41,746,830 (GRCm39) missense probably benign 0.23
R6227:Pcm1 UTSW 8 41,783,862 (GRCm39) missense probably damaging 0.99
R6368:Pcm1 UTSW 8 41,746,581 (GRCm39) missense probably benign 0.09
R6438:Pcm1 UTSW 8 41,778,418 (GRCm39) missense possibly damaging 0.94
R6459:Pcm1 UTSW 8 41,714,073 (GRCm39) missense probably damaging 1.00
R7399:Pcm1 UTSW 8 41,746,547 (GRCm39) missense probably benign 0.11
R7401:Pcm1 UTSW 8 41,762,568 (GRCm39) missense probably damaging 1.00
R7478:Pcm1 UTSW 8 41,714,410 (GRCm39) missense probably benign 0.17
R7570:Pcm1 UTSW 8 41,720,381 (GRCm39) missense possibly damaging 0.64
R7648:Pcm1 UTSW 8 41,728,736 (GRCm39) missense probably damaging 0.99
R7773:Pcm1 UTSW 8 41,762,610 (GRCm39) nonsense probably null
R7779:Pcm1 UTSW 8 41,782,061 (GRCm39) missense probably damaging 1.00
R7842:Pcm1 UTSW 8 41,780,621 (GRCm39) missense possibly damaging 0.54
R7863:Pcm1 UTSW 8 41,714,163 (GRCm39) missense probably damaging 0.99
R8169:Pcm1 UTSW 8 41,763,153 (GRCm39) missense possibly damaging 0.58
R8210:Pcm1 UTSW 8 41,766,974 (GRCm39) missense probably damaging 1.00
R8303:Pcm1 UTSW 8 41,736,758 (GRCm39) missense probably damaging 1.00
R8397:Pcm1 UTSW 8 41,736,616 (GRCm39) missense probably damaging 1.00
R8489:Pcm1 UTSW 8 41,766,437 (GRCm39) missense probably benign 0.19
R8519:Pcm1 UTSW 8 41,728,976 (GRCm39) missense probably damaging 1.00
R9136:Pcm1 UTSW 8 41,732,825 (GRCm39) missense probably benign 0.19
R9245:Pcm1 UTSW 8 41,732,877 (GRCm39) missense probably damaging 0.99
R9263:Pcm1 UTSW 8 41,732,790 (GRCm39) missense probably benign 0.00
R9406:Pcm1 UTSW 8 41,728,722 (GRCm39) missense probably damaging 0.99
R9412:Pcm1 UTSW 8 41,740,788 (GRCm39) missense probably damaging 1.00
R9541:Pcm1 UTSW 8 41,780,616 (GRCm39) missense probably benign 0.09
R9698:Pcm1 UTSW 8 41,723,541 (GRCm39) missense possibly damaging 0.95
R9716:Pcm1 UTSW 8 41,728,168 (GRCm39) missense probably damaging 0.98
R9747:Pcm1 UTSW 8 41,757,135 (GRCm39) missense probably benign 0.00
R9781:Pcm1 UTSW 8 41,720,398 (GRCm39) missense probably damaging 0.99
X0025:Pcm1 UTSW 8 41,783,679 (GRCm39) missense probably damaging 1.00
Z1177:Pcm1 UTSW 8 41,740,781 (GRCm39) missense probably damaging 0.99
Z1177:Pcm1 UTSW 8 41,727,208 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTGAGTAGAGTTCTCATTGCAAC -3'
(R):5'- TTGCCCCAAGTCAAGGAATG -3'

Sequencing Primer
(F):5'- GAGTTCTCATTGCAACTTTTTAGTG -3'
(R):5'- AAGAGTCATGGATTTGGACTGATG -3'
Posted On 2016-07-06