Incidental Mutation 'R7953:Poc5'
ID 649684
Institutional Source Beutler Lab
Gene Symbol Poc5
Ensembl Gene ENSMUSG00000021671
Gene Name POC5 centriolar protein
Synonyms 1200014M14Rik
MMRRC Submission 045997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7953 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96524767-96553719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96539408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 316 (N316K)
Ref Sequence ENSEMBL: ENSMUSP00000096898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099295]
AlphaFold Q9DBS8
Predicted Effect probably benign
Transcript: ENSMUST00000099295
AA Change: N316K

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671
AA Change: N316K

DomainStartEndE-ValueType
coiled coil region 175 206 N/A INTRINSIC
coiled coil region 300 341 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
low complexity region 418 433 N/A INTRINSIC
low complexity region 436 456 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,450,896 (GRCm39) R120G probably null Het
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Adrm1b A T 3: 92,336,637 (GRCm39) Y22N probably benign Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Caskin1 T G 17: 24,723,195 (GRCm39) L661R probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Col4a4 A G 1: 82,431,689 (GRCm39) S1532P unknown Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Dnajc27 T C 12: 4,147,270 (GRCm39) L151P possibly damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
Flnc C A 6: 29,447,828 (GRCm39) D1210E probably damaging Het
Fmn1 G A 2: 113,426,689 (GRCm39) M1233I probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Gas2l2 A G 11: 83,314,070 (GRCm39) V414A possibly damaging Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Gm16485 A T 9: 8,972,196 (GRCm39) N21Y unknown Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Ints8 T C 4: 11,227,128 (GRCm39) T582A probably benign Het
Irx2 A T 13: 72,777,343 (GRCm39) T55S probably benign Het
Lce1j A T 3: 92,696,390 (GRCm39) C129* probably null Het
Mettl25b T C 3: 87,834,955 (GRCm39) N115S possibly damaging Het
Mocs1 G A 17: 49,761,799 (GRCm39) G631E possibly damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Msrb2 A G 2: 19,399,166 (GRCm39) *176W probably null Het
Myh13 T A 11: 67,231,206 (GRCm39) L401Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Or9g20 A T 2: 85,630,239 (GRCm39) I125N probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plpp2 A C 10: 79,366,374 (GRCm39) L146R possibly damaging Het
Rad51ap2 A T 12: 11,512,593 (GRCm39) R947* probably null Het
Ralgapb A G 2: 158,307,803 (GRCm39) H1037R probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Scn7a A G 2: 66,587,670 (GRCm39) V11A possibly damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Smc2 T C 4: 52,470,911 (GRCm39) probably null Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Strc A T 2: 121,207,844 (GRCm39) F509Y probably damaging Het
Tas2r117 A C 6: 132,780,281 (GRCm39) T140P probably damaging Het
Tnxb T A 17: 34,928,509 (GRCm39) I2641N possibly damaging Het
Tnxb C A 17: 34,929,077 (GRCm39) P2707T probably benign Het
Vmn1r4 T A 6: 56,933,515 (GRCm39) N6K probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign Het
Other mutations in Poc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Poc5 APN 13 96,547,254 (GRCm39) missense probably damaging 1.00
IGL01377:Poc5 APN 13 96,538,139 (GRCm39) missense probably benign 0.35
IGL02981:Poc5 APN 13 96,538,265 (GRCm39) critical splice donor site probably null
IGL03031:Poc5 APN 13 96,538,123 (GRCm39) missense probably benign 0.00
R0348:Poc5 UTSW 13 96,535,374 (GRCm39) missense probably null 1.00
R1533:Poc5 UTSW 13 96,528,152 (GRCm39) missense probably damaging 0.96
R1881:Poc5 UTSW 13 96,535,239 (GRCm39) missense probably benign 0.21
R2171:Poc5 UTSW 13 96,547,257 (GRCm39) missense probably damaging 1.00
R2337:Poc5 UTSW 13 96,547,111 (GRCm39) missense probably damaging 0.98
R3419:Poc5 UTSW 13 96,540,925 (GRCm39) missense possibly damaging 0.88
R3736:Poc5 UTSW 13 96,533,324 (GRCm39) missense probably damaging 1.00
R4554:Poc5 UTSW 13 96,539,529 (GRCm39) missense probably benign 0.40
R5223:Poc5 UTSW 13 96,539,463 (GRCm39) missense probably benign 0.20
R5436:Poc5 UTSW 13 96,533,321 (GRCm39) missense probably damaging 1.00
R6089:Poc5 UTSW 13 96,533,179 (GRCm39) missense probably damaging 1.00
R6700:Poc5 UTSW 13 96,531,003 (GRCm39) missense probably benign 0.00
R7345:Poc5 UTSW 13 96,533,304 (GRCm39) missense probably damaging 1.00
R7354:Poc5 UTSW 13 96,531,033 (GRCm39) missense probably benign 0.02
R7363:Poc5 UTSW 13 96,540,925 (GRCm39) missense possibly damaging 0.88
R7454:Poc5 UTSW 13 96,537,340 (GRCm39) missense possibly damaging 0.93
R7773:Poc5 UTSW 13 96,547,143 (GRCm39) missense probably damaging 1.00
R7786:Poc5 UTSW 13 96,541,027 (GRCm39) missense possibly damaging 0.55
R8850:Poc5 UTSW 13 96,535,228 (GRCm39) missense possibly damaging 0.94
R9423:Poc5 UTSW 13 96,547,114 (GRCm39) missense probably damaging 1.00
R9723:Poc5 UTSW 13 96,551,026 (GRCm39) missense probably benign 0.00
X0019:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0024:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0034:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0035:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0036:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0037:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0038:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0039:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0040:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0052:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0053:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0054:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0058:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0060:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0061:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0062:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0063:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
Z1176:Poc5 UTSW 13 96,538,230 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- CTCTCAAAGGAATGTGGCTTG -3'
(R):5'- TTCTTAGCAGTATAGACCCAACC -3'

Sequencing Primer
(F):5'- ATCTATAATCTGAGCACTTGGGAGGC -3'
(R):5'- TCACTGATAGCCCCTCAAATTC -3'
Posted On 2020-09-15