Incidental Mutation 'R0708:Poc1b'
ID 63862
Institutional Source Beutler Lab
Gene Symbol Poc1b
Ensembl Gene ENSMUSG00000019952
Gene Name POC1 centriolar protein B
Synonyms Wdr51b, 4933430F16Rik
MMRRC Submission 038891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0708 (G1)
Quality Score 88
Status Not validated
Chromosome 10
Chromosomal Location 98942918-99033936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98990992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 291 (D291G)
Ref Sequence ENSEMBL: ENSMUSP00000124144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]
AlphaFold Q8BHD1
Predicted Effect probably null
Transcript: ENSMUST00000020113
AA Change: D291G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: D291G

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: ENSMUST00000159043
SMART Domains Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952

DomainStartEndE-ValueType
WD40 2 38 5.95e-7 SMART
Blast:WD40 41 75 9e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000159228
AA Change: D291G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: D291G

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 null
Transcript: ENSMUST00000159990
AA Change: D249G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: D249G

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: D291G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt A T 5: 107,506,766 (GRCm39) K450* probably null Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Col9a1 A T 1: 24,276,342 (GRCm39) Q750L possibly damaging Het
Dnah6 A T 6: 73,189,605 (GRCm39) S14R probably benign Het
Enox1 A G 14: 77,830,352 (GRCm39) N319S probably benign Het
Frs2 G A 10: 116,909,997 (GRCm39) T455M probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gmppa T C 1: 75,419,218 (GRCm39) F375S probably damaging Het
Hectd4 G A 5: 121,424,526 (GRCm39) probably null Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Insc T A 7: 114,444,381 (GRCm39) V456E probably damaging Het
Ints14 G A 9: 64,891,266 (GRCm39) V416I probably benign Het
Klk1b11 T C 7: 43,647,152 (GRCm39) F29L possibly damaging Het
Ogfod1 C T 8: 94,765,673 (GRCm39) L79F possibly damaging Het
Or8d2b T A 9: 38,788,571 (GRCm39) V33E probably damaging Het
Orc3 A T 4: 34,597,368 (GRCm39) I224N probably damaging Het
Papss2 T C 19: 32,614,616 (GRCm39) F111L probably damaging Het
Prl8a8 A T 13: 27,695,528 (GRCm39) M72K possibly damaging Het
Ptpn7 C A 1: 135,062,285 (GRCm39) T77K probably damaging Het
Ptpro T C 6: 137,363,251 (GRCm39) S462P probably benign Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Sema4d A G 13: 51,866,755 (GRCm39) V245A probably benign Het
Sgcb A T 5: 73,798,225 (GRCm39) probably null Het
Slc24a1 T A 9: 64,855,172 (GRCm39) K578N unknown Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Tecr A T 8: 84,299,738 (GRCm39) I101N probably damaging Het
Tectb T C 19: 55,179,984 (GRCm39) F277L probably benign Het
Tgs1 T A 4: 3,586,152 (GRCm39) L343H probably benign Het
Thbs4 C A 13: 92,909,694 (GRCm39) G368W probably damaging Het
Zfp558 T C 9: 18,368,123 (GRCm39) S222G possibly 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
R0723:Poc1b UTSW 10 98,965,457 (GRCm39) missense probably damaging 1.00
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'- TGGTTAAATCCAAGCCAGGACGC -3'
(R):5'- TCAGGCACTAACTCAGGCAAAAGG -3'

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