Incidental Mutation 'R8303:Pcm1'
ID 639323
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 067715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8303 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41736758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 875 (T875A)
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: T875A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: T875A

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: T914A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,966 (GRCm39) D149E probably benign Het
Aars2 T C 17: 45,818,523 (GRCm39) C103R probably damaging Het
Aass T C 6: 23,092,367 (GRCm39) D591G probably benign Het
Arhgap32 A G 9: 32,172,205 (GRCm39) T1662A probably benign Het
Arhgap42 A T 9: 9,009,327 (GRCm39) I520N probably damaging Het
Arhgef3 T C 14: 27,116,095 (GRCm39) I279T probably damaging Het
Arid4b A G 13: 14,294,808 (GRCm39) K30R probably damaging Het
Asxl3 C T 18: 22,657,473 (GRCm39) R1828W probably benign Het
Bid T C 6: 120,877,200 (GRCm39) Y47C probably benign Het
Card6 T C 15: 5,134,847 (GRCm39) T119A probably benign Het
Cbr1 T C 16: 93,406,905 (GRCm39) I207T probably damaging Het
Cep135 T C 5: 76,759,575 (GRCm39) L443P probably damaging Het
Cfap251 T A 5: 123,460,650 (GRCm39) V1204E probably damaging Het
Cfap43 T A 19: 47,754,274 (GRCm39) R1017* probably null Het
Cfap52 T A 11: 67,830,621 (GRCm39) S280C probably benign Het
Cntnap5b T C 1: 100,069,022 (GRCm39) F81L probably damaging Het
Cyp4a12a A G 4: 115,186,130 (GRCm39) D430G probably damaging Het
Cyp4f37 G A 17: 32,853,152 (GRCm39) probably null Het
Dclre1a A G 19: 56,531,121 (GRCm39) S742P probably damaging Het
Ddx54 T C 5: 120,759,855 (GRCm39) F414S probably damaging Het
Dsp A G 13: 38,381,319 (GRCm39) N2688S probably benign Het
Elovl4 A T 9: 83,670,320 (GRCm39) probably null Het
Erbin A C 13: 103,966,694 (GRCm39) probably null Het
Fsip2 A G 2: 82,818,724 (GRCm39) D4819G probably benign Het
Gapvd1 G A 2: 34,602,212 (GRCm39) P645L probably damaging Het
Gbp9 T C 5: 105,229,171 (GRCm39) E492G possibly damaging Het
Gpc5 T A 14: 115,665,667 (GRCm39) I497K probably benign Het
Hlx A G 1: 184,459,905 (GRCm39) L411P probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ice1 A T 13: 70,754,526 (GRCm39) I520N probably benign Het
Ist1 T C 8: 110,410,412 (GRCm39) probably null Het
Itga3 T C 11: 94,953,466 (GRCm39) D292G probably benign Het
Kif21a T C 15: 90,855,399 (GRCm39) N655S probably damaging Het
Lrrtm1 A G 6: 77,221,662 (GRCm39) H373R probably benign Het
Ngdn A T 14: 55,260,602 (GRCm39) H270L probably benign Het
Nol4 G A 18: 23,173,231 (GRCm39) probably benign Het
Nup50l T C 6: 96,142,702 (GRCm39) E114G probably benign Het
Nxpe5 G A 5: 138,239,264 (GRCm39) probably benign Het
Or1j18 A G 2: 36,624,467 (GRCm39) I45V probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or8d1 A C 9: 38,766,837 (GRCm39) T160P probably damaging Het
Or8g30 A C 9: 39,230,689 (GRCm39) S74A probably damaging Het
Pask C A 1: 93,248,286 (GRCm39) R1005L probably benign Het
Pdrg1 A T 2: 152,851,587 (GRCm39) I130N probably damaging Het
Plec A T 15: 76,073,466 (GRCm39) M448K unknown Het
R3hdml T G 2: 163,341,832 (GRCm39) V204G probably damaging Het
Rasa4 G A 5: 136,118,235 (GRCm39) V32M possibly damaging Het
Scaf8 T C 17: 3,198,827 (GRCm39) V44A unknown Het
Smad3 G T 9: 63,574,760 (GRCm39) P177T probably benign Het
Smpd4 T A 16: 17,457,195 (GRCm39) F384L probably damaging Het
Sycp2l G C 13: 41,283,275 (GRCm39) L170F probably damaging Het
Tas2r107 T C 6: 131,636,585 (GRCm39) S155G probably benign Het
Tmem143 T A 7: 45,565,994 (GRCm39) M439K probably benign Het
Ttc41 A T 10: 86,555,494 (GRCm39) T317S probably benign Het
Umps A G 16: 33,784,240 (GRCm39) V71A possibly damaging Het
Usp17lc G A 7: 103,067,389 (GRCm39) G228D possibly damaging Het
Usp17ld C T 7: 102,900,023 (GRCm39) C303Y probably damaging Het
Vmn2r65 C A 7: 84,589,391 (GRCm39) E842* probably null Het
Vmn2r94 A G 17: 18,464,433 (GRCm39) F619S probably damaging Het
Vps13a T C 19: 16,594,270 (GRCm39) T3154A probably benign Het
Vps13b C T 15: 35,640,063 (GRCm39) T1311I probably damaging Het
Xpot A T 10: 121,447,405 (GRCm39) Y353* probably null Het
Zfp319 A T 8: 96,055,765 (GRCm39) L146Q probably damaging Het
Zfp422 T A 6: 116,603,612 (GRCm39) H129L probably damaging Het
Zzef1 T C 11: 72,808,015 (GRCm39) F2709L 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
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
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
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'- AAGGCTTCATTCAGCAAATCC -3'
(R):5'- CCATTTGATCAAGTACCAGAGTAAC -3'

Sequencing Primer
(F):5'- TCAGCAAATCCAAATATTTTCTTGAC -3'
(R):5'- ACTGTAGAATAGAAAGTGGCTAATTG -3'
Posted On 2020-07-28