Incidental Mutation 'R0498:Pcm1'
ID 40604
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 038694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0498 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41746806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1335 (S1335N)
Ref Sequence ENSEMBL: ENSMUSP00000147887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]
AlphaFold Q9R0L6
Predicted Effect probably benign
Transcript: ENSMUST00000045218
AA Change: S1296N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: S1296N

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: S1335N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,718 (GRCm39) D220V probably benign Het
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Ap1m2 T C 9: 21,207,129 (GRCm39) *426W probably null Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Fhod1 G A 8: 106,056,488 (GRCm39) R1101C probably damaging Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Kmt2e T A 5: 23,683,970 (GRCm39) Y373* probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Stard13 T A 5: 150,975,942 (GRCm39) Y742F probably damaging Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S probably 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
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
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'- CACACTTGCTGGGCTCTCTGATTAAAA -3'
(R):5'- GAAGCAGCTTTCTACAATGCCTGTAGAT -3'

Sequencing Primer
(F):5'- TTTTGGTAAGGAATCAGAAACAGCC -3'
(R):5'- GGCAAAGTAACAAGACCAAGGTTT -3'
Posted On 2013-05-23