Incidental Mutation 'R1566:Pcm1'
ID 175275
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41743810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1152 (N1152K)
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: N1152K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: N1152K

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: N1191K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S 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
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'- gccgtctctctgccTGTAAAACTTCT -3'
(R):5'- TGTGCTGTGTCACAAAGTGAATCGT -3'

Sequencing Primer
(F):5'- tgcccgtagagaccagag -3'
(R):5'- gcagagagataacctacgcc -3'
Posted On 2014-04-24