Incidental Mutation 'R0723:Poc1b'
ID 63623
Institutional Source Beutler Lab
Gene Symbol Poc1b
Ensembl Gene ENSMUSG00000019952
Gene Name POC1 centriolar protein B
Synonyms Wdr51b, 4933430F16Rik
MMRRC Submission 038905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0723 (G1)
Quality Score 91
Status Validated
Chromosome 10
Chromosomal Location 98942918-99033936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98965457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 129 (W129R)
Ref Sequence ENSEMBL: ENSMUSP00000151221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000060761] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]
AlphaFold Q8BHD1
Predicted Effect probably damaging
Transcript: ENSMUST00000020113
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: W129R

DomainStartEndE-ValueType
WD40 7 46 1.71e-7 SMART
WD40 49 88 8.68e-9 SMART
WD40 91 130 2.71e-10 SMART
WD40 133 172 2.43e-12 SMART
WD40 175 214 2.07e-6 SMART
WD40 217 256 1.71e-7 SMART
WD40 259 298 7.55e-9 SMART
coiled coil region 428 468 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060761
Predicted Effect probably damaging
Transcript: ENSMUST00000159043
AA Change: W37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952
AA Change: W37R

DomainStartEndE-ValueType
WD40 2 38 5.95e-7 SMART
Blast:WD40 41 75 9e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000159228
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: W129R

DomainStartEndE-ValueType
WD40 7 46 1.71e-7 SMART
WD40 49 88 8.68e-9 SMART
WD40 91 130 2.71e-10 SMART
WD40 133 172 2.43e-12 SMART
WD40 175 214 2.07e-6 SMART
WD40 217 256 1.71e-7 SMART
WD40 259 298 7.55e-9 SMART
coiled coil region 401 441 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159990
AA Change: W87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: W87R

DomainStartEndE-ValueType
WD40 7 46 8.68e-9 SMART
WD40 49 88 2.71e-10 SMART
WD40 91 130 2.43e-12 SMART
WD40 133 172 2.07e-6 SMART
WD40 175 214 1.71e-7 SMART
WD40 217 256 7.55e-9 SMART
coiled coil region 386 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219884
AA Change: W129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9695 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acbd5 T G 2: 22,959,608 (GRCm39) V54G probably damaging Het
Acin1 A T 14: 54,902,908 (GRCm39) S255T probably damaging Het
Adcy2 A G 13: 69,147,248 (GRCm39) L56P probably damaging Het
Akap6 G T 12: 53,188,685 (GRCm39) C2033F probably damaging Het
Ano5 A G 7: 51,237,506 (GRCm39) I777V probably benign Het
Arhgef28 A G 13: 98,075,987 (GRCm39) V1349A probably benign Het
Atosa G A 9: 74,916,733 (GRCm39) G444E probably damaging Het
Bank1 T C 3: 135,760,164 (GRCm39) probably null Het
C2cd5 T C 6: 142,987,281 (GRCm39) probably benign Het
Cadps2 A G 6: 23,287,697 (GRCm39) V1161A probably damaging Het
Car8 A T 4: 8,169,703 (GRCm39) D268E probably benign Het
Ciao3 G A 17: 26,000,795 (GRCm39) V406M probably damaging Het
Ckap5 T A 2: 91,385,676 (GRCm39) S175T probably damaging Het
Clk4 T A 11: 51,166,320 (GRCm39) Y67* probably null Het
Copg2 T C 6: 30,792,917 (GRCm39) I473V possibly damaging Het
Cstdc1 T C 2: 148,625,282 (GRCm39) I72T probably damaging Het
Cyp2s1 C T 7: 25,508,973 (GRCm39) V43I probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Efemp2 T C 19: 5,530,078 (GRCm39) S140P probably damaging Het
Fat1 C A 8: 45,479,786 (GRCm39) T2944K probably damaging Het
Fgfr1 T A 8: 26,047,784 (GRCm39) D43E probably damaging Het
Fry G A 5: 150,419,825 (GRCm39) A996T probably damaging Het
Fyb2 G A 4: 104,873,063 (GRCm39) V784I probably benign Het
Gm6507 T A 6: 89,162,144 (GRCm39) noncoding transcript Het
Gm7964 T C 7: 83,405,374 (GRCm39) noncoding transcript Het
Gucy2c T C 6: 136,704,799 (GRCm39) probably null Het
Hdac10 A T 15: 89,010,621 (GRCm39) L259Q probably damaging Het
Hoxd9 A T 2: 74,529,172 (GRCm39) D258V probably damaging Het
Hs3st3b1 T C 11: 63,812,401 (GRCm39) T105A probably benign Het
Hsd17b7 A G 1: 169,783,595 (GRCm39) L271P probably damaging Het
Ifnlr1 T A 4: 135,428,524 (GRCm39) probably benign Het
Kif22 A T 7: 126,633,078 (GRCm39) M121K probably damaging Het
Kl G A 5: 150,876,566 (GRCm39) D129N probably damaging Het
Mettl13 A T 1: 162,361,999 (GRCm39) I648N probably damaging Het
Mlh1 C T 9: 111,100,540 (GRCm39) R18H probably damaging Het
Mtmr14 T C 6: 113,247,473 (GRCm39) probably benign Het
Myo15a C A 11: 60,369,803 (GRCm39) N854K possibly damaging Het
Myo1h T C 5: 114,457,741 (GRCm39) I84T probably benign Het
Myo9a A T 9: 59,778,383 (GRCm39) S1380C probably benign Het
Myof A G 19: 37,969,708 (GRCm39) V318A probably damaging Het
N4bp2l2 A G 5: 150,585,897 (GRCm39) S28P probably damaging Het
Nbr1 C T 11: 101,467,145 (GRCm39) Q570* probably null Het
Nhp2 C T 11: 51,510,750 (GRCm39) Q36* probably null Het
Or1e17 T G 11: 73,831,096 (GRCm39) V8G probably benign Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Potegl T C 2: 23,146,936 (GRCm39) probably benign Het
Rapgef2 C T 3: 78,986,481 (GRCm39) E1018K probably benign Het
Rgs12 T C 5: 35,181,710 (GRCm39) probably benign Het
Rufy2 G A 10: 62,833,873 (GRCm39) V280I probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Spag5 C A 11: 78,210,410 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,971,691 (GRCm39) N341K probably damaging Het
Stxbp5 A T 10: 9,644,617 (GRCm39) I961N probably damaging Het
Tet2 T C 3: 133,173,045 (GRCm39) E1739G probably benign Het
Tmod2 A G 9: 75,502,337 (GRCm39) F50S possibly damaging Het
Tnfsf13b T G 8: 10,057,166 (GRCm39) probably null Het
Ttn T C 2: 76,616,679 (GRCm39) K16525E possibly damaging Het
Txnrd2 T C 16: 18,259,629 (GRCm39) probably benign Het
Ubr1 A T 2: 120,711,582 (GRCm39) Y1437* probably null Het
Vwf C A 6: 125,543,225 (GRCm39) D170E probably benign Het
Wdr95 C G 5: 149,497,513 (GRCm39) I230M probably damaging Het
Xirp2 C T 2: 67,342,559 (GRCm39) S1600F probably damaging Het
Zfp12 A G 5: 143,230,638 (GRCm39) K322E probably damaging Het
Other mutations in Poc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Poc1b APN 10 98,965,514 (GRCm39) missense probably benign 0.29
IGL01314:Poc1b APN 10 98,965,503 (GRCm39) missense probably damaging 1.00
IGL02503:Poc1b APN 10 98,980,210 (GRCm39) splice site probably benign
IGL02839:Poc1b APN 10 98,980,460 (GRCm39) splice site probably benign
IGL02966:Poc1b APN 10 98,980,176 (GRCm39) missense probably damaging 1.00
R0708:Poc1b UTSW 10 98,990,992 (GRCm39) missense probably null 0.99
R1423:Poc1b UTSW 10 98,988,725 (GRCm39) missense probably damaging 1.00
R4383:Poc1b UTSW 10 98,992,161 (GRCm39) missense probably damaging 1.00
R4426:Poc1b UTSW 10 98,991,001 (GRCm39) critical splice donor site probably null
R4427:Poc1b UTSW 10 98,991,001 (GRCm39) critical splice donor site probably null
R5076:Poc1b UTSW 10 98,943,703 (GRCm39) missense probably damaging 0.98
R6355:Poc1b UTSW 10 98,965,436 (GRCm39) missense probably damaging 1.00
R6731:Poc1b UTSW 10 98,988,733 (GRCm39) missense probably null 1.00
R6833:Poc1b UTSW 10 99,028,666 (GRCm39) missense probably benign 0.16
R6834:Poc1b UTSW 10 99,028,666 (GRCm39) missense probably benign 0.16
R7184:Poc1b UTSW 10 98,970,199 (GRCm39) missense probably benign 0.01
R7794:Poc1b UTSW 10 98,965,460 (GRCm39) missense possibly damaging 0.67
R7982:Poc1b UTSW 10 99,000,764 (GRCm39) missense probably benign 0.28
R8172:Poc1b UTSW 10 98,980,338 (GRCm39) splice site probably null
R8182:Poc1b UTSW 10 98,991,005 (GRCm39) splice site probably null
R8544:Poc1b UTSW 10 98,960,770 (GRCm39) nonsense probably null
R8679:Poc1b UTSW 10 99,000,728 (GRCm39) splice site probably benign
R8772:Poc1b UTSW 10 98,992,219 (GRCm39) splice site probably benign
R8931:Poc1b UTSW 10 99,028,861 (GRCm39) critical splice donor site probably null
R9021:Poc1b UTSW 10 98,980,183 (GRCm39) missense possibly damaging 0.50
R9761:Poc1b UTSW 10 98,965,356 (GRCm39) missense probably benign 0.03
Z1177:Poc1b UTSW 10 98,980,375 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCACATGGCCTTCACATACTTTCTTA -3'
(R):5'- AAAATGGCACAGAAGTACTGCTGTCATA -3'

Sequencing Primer
(F):5'- AGCTGTTTAAGTTTCTACTACTGCG -3'
(R):5'- cacacatacacacacacacac -3'
Posted On 2013-07-30