Incidental Mutation 'R8169:Pcm1'
ID 633970
Institutional Source Beutler Lab
Gene Symbol Pcm1
Ensembl Gene ENSMUSG00000031592
Gene Name pericentriolar material 1
Synonyms 9430077F19Rik, C030044G17Rik, 2600002H09Rik
MMRRC Submission 067595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8169 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41763153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1460 (S1460R)
Ref Sequence ENSEMBL: ENSMUSP00000039709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]
AlphaFold Q9R0L6
Predicted Effect possibly damaging
Transcript: ENSMUST00000045218
AA Change: S1460R

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: S1460R

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: S1499R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.3394 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (80/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik C A 5: 139,349,812 (GRCm39) G79V probably damaging Het
4930562C15Rik T A 16: 4,684,082 (GRCm39) Y226N probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Bach1 G A 16: 87,519,390 (GRCm39) C560Y possibly damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Casq2 G T 3: 102,017,628 (GRCm39) A103S possibly damaging Het
Cfap100 A G 6: 90,394,656 (GRCm39) F57S Het
Clca3a2 A T 3: 144,783,653 (GRCm39) L654Q probably damaging Het
Cntnap5c T A 17: 58,411,765 (GRCm39) probably null Het
Cplane2 A G 4: 140,945,530 (GRCm39) H127R probably damaging Het
Crtc2 G C 3: 90,170,883 (GRCm39) G652A probably damaging Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Dars1 T C 1: 128,304,002 (GRCm39) N242D probably null Het
Dnah10 T C 5: 124,877,946 (GRCm39) L2677P probably damaging Het
Dnal1 G A 12: 84,171,330 (GRCm39) A3T probably benign Het
Dpep2 C T 8: 106,722,849 (GRCm39) V60I Het
Eeig1 T C 2: 32,453,760 (GRCm39) I203T probably benign Het
Ehmt2 T A 17: 35,122,339 (GRCm39) I302N probably benign Het
Eif3a C T 19: 60,750,628 (GRCm39) R1309Q unknown Het
Eno4 T A 19: 58,935,084 (GRCm39) Y100N probably benign Het
Ephx2 A T 14: 66,349,602 (GRCm39) probably null Het
Fbxw14 A T 9: 109,106,284 (GRCm39) I251K probably benign Het
Fcgbp T C 7: 27,784,919 (GRCm39) probably null Het
Foxm1 A C 6: 128,348,671 (GRCm39) probably null Het
Fscn3 T A 6: 28,430,328 (GRCm39) I166N possibly damaging Het
Gdpd4 G T 7: 97,621,335 (GRCm39) V193L probably benign Het
Gnpat T G 8: 125,606,869 (GRCm39) C352G probably benign Het
H2-Q7 T A 17: 35,658,910 (GRCm39) Y120* probably null Het
Klri1 G A 6: 129,694,070 (GRCm39) R6C probably benign Het
Kmo T C 1: 175,476,729 (GRCm39) V154A probably benign Het
Kmt2c A G 5: 25,559,685 (GRCm39) L1031P probably damaging Het
Lrrc14b T G 13: 74,511,286 (GRCm39) T265P possibly damaging Het
Lrrc2 C T 9: 110,809,954 (GRCm39) T330I probably benign Het
Lyn T A 4: 3,783,050 (GRCm39) S428T probably damaging Het
Lypd10 T A 7: 24,412,000 (GRCm39) M60K probably benign Het
Mfsd8 T A 3: 40,791,550 (GRCm39) M59L probably benign Het
Mok T A 12: 110,774,799 (GRCm39) Q341L probably benign Het
Muc21 T C 17: 35,932,072 (GRCm39) T705A unknown Het
Myh3 C A 11: 66,979,856 (GRCm39) N598K probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp4e A G 7: 23,019,931 (GRCm39) I139M probably benign Het
Or11g25 T C 14: 50,723,692 (GRCm39) V259A probably benign Het
Or3a10 T A 11: 73,935,707 (GRCm39) Q131L possibly damaging Het
Or4b13 G A 2: 90,082,442 (GRCm39) R297* probably null Het
Or51g2 A G 7: 102,622,545 (GRCm39) L218P probably damaging Het
Or52n2b A T 7: 104,565,619 (GRCm39) Y295N possibly damaging Het
Osbpl7 G A 11: 96,945,676 (GRCm39) S312N probably damaging Het
Paxip1 A G 5: 27,977,093 (GRCm39) L323P unknown Het
Pcdh18 T A 3: 49,699,684 (GRCm39) H926L probably damaging Het
Pdha2 A G 3: 140,917,155 (GRCm39) S118P possibly damaging Het
Pdss1 A T 2: 22,791,824 (GRCm39) Y86F probably benign Het
Ppargc1a A T 5: 51,631,026 (GRCm39) D534E probably benign Het
Prune2 A G 19: 17,102,455 (GRCm39) K2538R probably benign Het
Ptprq A T 10: 107,418,351 (GRCm39) I1675N probably damaging Het
Rgma C T 7: 73,025,630 (GRCm39) P3L probably benign Het
Ros1 A G 10: 51,940,768 (GRCm39) probably null Het
Sema4g C T 19: 44,987,410 (GRCm39) R519W probably damaging Het
Serpinc1 T A 1: 160,820,971 (GRCm39) F139L probably damaging Het
Slc22a29 A G 19: 8,184,696 (GRCm39) I198T probably damaging Het
Slc4a5 T C 6: 83,280,373 (GRCm39) V1007A probably benign Het
Sptbn1 T C 11: 30,147,783 (GRCm39) Y17C possibly damaging Het
Tex261 C A 6: 83,751,999 (GRCm39) probably null Het
Timmdc1 T A 16: 38,331,148 (GRCm39) T128S probably benign Het
Tmem120b C A 5: 123,237,999 (GRCm39) Y96* probably null Het
Tmem196 T A 12: 119,982,311 (GRCm39) F182I possibly damaging Het
Tnxb G A 17: 34,918,181 (GRCm39) V2365M possibly damaging Het
Tph1 T C 7: 46,303,233 (GRCm39) silent Het
Trmt9b A T 8: 36,978,857 (GRCm39) K153N probably damaging Het
Trpc1 G A 9: 95,592,323 (GRCm39) Q551* probably null Het
Tubgcp3 T C 8: 12,666,099 (GRCm39) N828D probably benign Het
Unc13a C A 8: 72,108,933 (GRCm39) G478W probably damaging Het
Usp15 T A 10: 122,961,798 (GRCm39) T627S Het
Vmn1r115 A T 7: 20,578,144 (GRCm39) I256N probably damaging Het
Vmn2r6 T A 3: 64,447,310 (GRCm39) K585N probably benign Het
Vsir G T 10: 60,194,047 (GRCm39) probably null Het
Xirp2 A G 2: 67,343,543 (GRCm39) D1928G probably benign Het
Xylt1 A G 7: 117,249,846 (GRCm39) Y672C probably damaging Het
Yrdc A G 4: 124,744,880 (GRCm39) S105G probably benign Het
Zfc3h1 T A 10: 115,254,616 (GRCm39) N1403K probably damaging Het
Zfp160 A T 17: 21,247,298 (GRCm39) H616L probably damaging Het
Zfp637 T A 6: 117,822,252 (GRCm39) F127I probably damaging Het
Zfp69 G T 4: 120,787,731 (GRCm39) A528D probably damaging Het
Zpr1 T A 9: 46,189,645 (GRCm39) L342Q 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
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
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'- GCCACTGCTTTGAAGTTTGTCAC -3'
(R):5'- AAGTTTTCTGACTTGACCACTCTTTGG -3'

Sequencing Primer
(F):5'- CGTATCCAGACACATTTCTG -3'
(R):5'- CACTCTTTGGTCTAACTAATCTTCTG -3'
Posted On 2020-07-13