Incidental Mutation 'R7632:Cep83'
ID 589708
Institutional Source Beutler Lab
Gene Symbol Cep83
Ensembl Gene ENSMUSG00000020024
Gene Name centrosomal protein 83
Synonyms Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik
MMRRC Submission 045720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 94524476-94626201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94586502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 433 (R433W)
Ref Sequence ENSEMBL: ENSMUSP00000020212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020212]
AlphaFold Q9D5R3
Predicted Effect probably damaging
Transcript: ENSMUST00000020212
AA Change: R433W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: R433W

DomainStartEndE-ValueType
coiled coil region 31 100 N/A INTRINSIC
coiled coil region 121 602 N/A INTRINSIC
coiled coil region 656 689 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
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 centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Ghrhr G T 6: 55,361,727 (GRCm39) G298V probably benign Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Kat2a G A 11: 100,599,422 (GRCm39) Q523* probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pcdhb8 A T 18: 37,488,648 (GRCm39) I109L probably benign Het
Pde2a A G 7: 101,133,801 (GRCm39) D104G possibly damaging Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plod1 T C 4: 148,011,481 (GRCm39) K248R probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K probably benign Het
Other mutations in Cep83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Cep83 APN 10 94,625,626 (GRCm39) missense possibly damaging 0.77
IGL00912:Cep83 APN 10 94,573,728 (GRCm39) nonsense probably null
IGL01141:Cep83 APN 10 94,624,619 (GRCm39) missense probably benign 0.39
R0358:Cep83 UTSW 10 94,555,593 (GRCm39) missense probably benign
R0530:Cep83 UTSW 10 94,555,450 (GRCm39) splice site probably benign
R0579:Cep83 UTSW 10 94,584,915 (GRCm39) missense possibly damaging 0.58
R1140:Cep83 UTSW 10 94,573,752 (GRCm39) missense probably damaging 1.00
R1573:Cep83 UTSW 10 94,624,525 (GRCm39) missense probably damaging 1.00
R1756:Cep83 UTSW 10 94,586,129 (GRCm39) missense probably damaging 1.00
R3121:Cep83 UTSW 10 94,622,700 (GRCm39) missense probably damaging 1.00
R3684:Cep83 UTSW 10 94,622,687 (GRCm39) missense probably benign 0.01
R5115:Cep83 UTSW 10 94,604,751 (GRCm39) missense probably benign
R5325:Cep83 UTSW 10 94,573,768 (GRCm39) missense probably damaging 0.98
R5439:Cep83 UTSW 10 94,625,600 (GRCm39) missense probably benign 0.03
R5782:Cep83 UTSW 10 94,584,894 (GRCm39) missense probably damaging 1.00
R5891:Cep83 UTSW 10 94,561,537 (GRCm39) missense probably benign 0.12
R7229:Cep83 UTSW 10 94,555,527 (GRCm39) missense probably damaging 1.00
R7953:Cep83 UTSW 10 94,573,804 (GRCm39) missense probably damaging 0.99
R8043:Cep83 UTSW 10 94,573,804 (GRCm39) missense probably damaging 0.99
R8167:Cep83 UTSW 10 94,564,579 (GRCm39) missense possibly damaging 0.56
R8171:Cep83 UTSW 10 94,604,797 (GRCm39) missense possibly damaging 0.83
R8409:Cep83 UTSW 10 94,573,839 (GRCm39) nonsense probably null
R9079:Cep83 UTSW 10 94,564,541 (GRCm39) missense possibly damaging 0.62
R9195:Cep83 UTSW 10 94,604,801 (GRCm39) missense possibly damaging 0.90
R9522:Cep83 UTSW 10 94,586,184 (GRCm39) missense probably damaging 1.00
R9604:Cep83 UTSW 10 94,554,939 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ACCAGAAACTCATGGTCTTACAAG -3'
(R):5'- TCTCAAGATACAGTGAGGGCAG -3'

Sequencing Primer
(F):5'- TGTGCAAACATTGTATTCTCAGATC -3'
(R):5'- AAAGTGAAATGGGTTTGGTTTATTG -3'
Posted On 2019-10-24