Incidental Mutation 'R1816:Pcm1'
ID 204430
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 039844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1816 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41762574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1412 (S1412T)
Ref Sequence ENSEMBL: ENSMUSP00000147887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]
AlphaFold Q9R0L6
Predicted Effect probably damaging
Transcript: ENSMUST00000045218
AA Change: S1373T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: S1373T

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 damaging
Transcript: ENSMUST00000211247
AA Change: S1412T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.2055 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.9%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,644,222 (GRCm39) Y721* probably null Het
4933405L10Rik T A 8: 106,436,491 (GRCm39) V220E possibly damaging Het
4933434E20Rik T C 3: 89,960,398 (GRCm39) V13A possibly damaging Het
Adam1b T G 5: 121,639,788 (GRCm39) Q419P probably damaging Het
Ankib1 A G 5: 3,784,028 (GRCm39) V316A probably benign Het
Anks1 T A 17: 28,205,547 (GRCm39) D294E probably damaging Het
Atr T C 9: 95,748,747 (GRCm39) S431P probably benign Het
Bfsp1 C T 2: 143,683,599 (GRCm39) A242T probably benign Het
Bptf A T 11: 106,951,405 (GRCm39) V279E probably damaging Het
Camkk2 A G 5: 122,872,243 (GRCm39) L540P probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam12 T A 7: 17,805,690 (GRCm39) probably null Het
Cntnap5a G T 1: 116,356,618 (GRCm39) A823S probably benign Het
Cp T C 3: 20,022,384 (GRCm39) probably benign Het
Dhx58 A G 11: 100,593,978 (GRCm39) V163A probably damaging Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Disp1 T A 1: 182,880,139 (GRCm39) D288V probably damaging Het
Dnah7a A G 1: 53,670,901 (GRCm39) probably benign Het
Eaf2 T G 16: 36,628,371 (GRCm39) probably benign Het
Efna1 T C 3: 89,183,694 (GRCm39) N44S possibly damaging Het
Etnppl T C 3: 130,428,211 (GRCm39) I462T probably benign Het
Fam83d G T 2: 158,610,070 (GRCm39) A13S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Fstl1 A G 16: 37,647,086 (GRCm39) probably null Het
Gm14226 A T 2: 154,867,549 (GRCm39) D502V probably damaging Het
Gm5117 T A 8: 32,228,986 (GRCm39) noncoding transcript Het
Gm973 A G 1: 59,621,558 (GRCm39) N566S probably damaging Het
Grm7 A T 6: 111,472,752 (GRCm39) K16* probably null Het
Hbb-bh2 G A 7: 103,489,585 (GRCm39) T17I possibly damaging Het
Htt C T 5: 34,961,084 (GRCm39) A237V probably benign Het
Itga6 T C 2: 71,671,153 (GRCm39) V665A probably benign Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Mki67 T C 7: 135,309,116 (GRCm39) D445G possibly damaging Het
Myo10 T C 15: 25,800,286 (GRCm39) V1454A probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Odam A G 5: 88,037,329 (GRCm39) probably null Het
Or1e33 T C 11: 73,738,025 (GRCm39) K309E probably benign Het
Or2ag13 A T 7: 106,472,695 (GRCm39) Y252* probably null Het
Or4p18 T G 2: 88,232,943 (GRCm39) I112L possibly damaging Het
Or5g29 G T 2: 85,421,269 (GRCm39) K128N probably benign Het
Or5p80 T C 7: 108,229,364 (GRCm39) L55P probably damaging Het
Or8k33 A T 2: 86,384,011 (GRCm39) C152* probably null Het
Pgap1 A G 1: 54,531,216 (GRCm39) L753P probably damaging Het
Pi4k2b T C 5: 52,908,088 (GRCm39) S153P probably damaging Het
Pik3c2b C T 1: 133,029,108 (GRCm39) A1398V probably benign Het
Pkhd1l1 T C 15: 44,391,635 (GRCm39) I1567T possibly damaging Het
Rapgef6 G A 11: 54,585,314 (GRCm39) V1571I probably benign Het
Rfx2 C A 17: 57,115,305 (GRCm39) E5* probably null Het
Sh3tc1 C A 5: 35,857,928 (GRCm39) probably null Het
Slc22a12 G A 19: 6,592,683 (GRCm39) Q20* probably null Het
Slc4a1 A G 11: 102,242,056 (GRCm39) C861R probably damaging Het
Snrnp25 G A 11: 32,157,565 (GRCm39) V48I probably damaging Het
Spata1 G T 3: 146,186,962 (GRCm39) P211Q probably damaging Het
Srgap1 G A 10: 121,761,876 (GRCm39) Q91* probably null Het
Stab1 T C 14: 30,879,422 (GRCm39) D686G probably benign Het
Stx8 T A 11: 67,902,152 (GRCm39) M112K possibly damaging Het
Tfap2b A T 1: 19,279,436 (GRCm39) K15N probably damaging Het
Thbs2 C A 17: 14,890,975 (GRCm39) D1052Y probably benign Het
Thbs2 T A 17: 14,890,976 (GRCm39) E1051D probably benign Het
Thoc2l A G 5: 104,665,700 (GRCm39) D74G probably benign Het
Tlr2 T C 3: 83,745,516 (GRCm39) Y189C probably damaging Het
Tmem268 C A 4: 63,483,947 (GRCm39) P55T possibly damaging Het
Tnpo3 T C 6: 29,557,016 (GRCm39) H745R probably benign Het
Trappc14 A G 5: 138,258,603 (GRCm39) V548A possibly damaging Het
Ube2s T C 7: 4,814,554 (GRCm39) N2S probably damaging Het
Ulk1 A G 5: 110,935,697 (GRCm39) Y39H probably damaging Het
Vmn1r49 G T 6: 90,049,785 (GRCm39) D72E possibly damaging Het
Vmn2r27 C A 6: 124,207,330 (GRCm39) G104* probably null Het
Vmn2r92 A G 17: 18,386,939 (GRCm39) I93V probably damaging Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zfp958 A T 8: 4,679,147 (GRCm39) I391F possibly damaging 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
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
R5250:Pcm1 UTSW 8 41,765,242 (GRCm39) missense probably damaging 0.99
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'- CCATGAAGTACATACAGTTTTCCAGG -3'
(R):5'- TGCTTCACTTAAGGAGCTACCC -3'

Sequencing Primer
(F):5'- ATATAGTCCAAGCTGCTGGC -3'
(R):5'- CCCATATAGAAGCACTGAGTAAGCTG -3'
Posted On 2014-06-23