Incidental Mutation 'R5970:Cfap52'
ID 470811
Institutional Source Beutler Lab
Gene Symbol Cfap52
Ensembl Gene ENSMUSG00000020904
Gene Name cilia and flagella associated protein 52
Synonyms Wdr16, 4933417B11Rik, 1700019F09Rik
MMRRC Submission 044153-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.772) question?
Stock # R5970 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67815632-67856477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67821570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 486 (I486T)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287]
AlphaFold Q5F201
Predicted Effect probably damaging
Transcript: ENSMUST00000021287
AA Change: I486T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: I486T

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
WD40 321 360 6.6e1 SMART
WD40 363 402 8.56e0 SMART
WD40 405 445 2.27e-3 SMART
WD40 450 489 3.14e-6 SMART
WD40 492 530 9.21e0 SMART
WD40 533 573 6.19e-5 SMART
WD40 576 615 2.15e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142929
Meta Mutation Damage Score 0.4705 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 G A 6: 90,574,028 (GRCm39) probably benign Het
Ambn T C 5: 88,615,810 (GRCm39) V413A possibly damaging Het
Amotl1 T A 9: 14,507,824 (GRCm39) D41V probably damaging Het
Arhgef26 T C 3: 62,247,468 (GRCm39) V184A probably benign Het
Birc6 G T 17: 74,925,497 (GRCm39) G936V possibly damaging Het
Ccser1 T A 6: 61,288,226 (GRCm39) S130T possibly damaging Het
Cecr2 A G 6: 120,697,868 (GRCm39) I56V probably damaging Het
Col4a3 A G 1: 82,694,050 (GRCm39) I1557V possibly damaging Het
Col6a5 T A 9: 105,823,046 (GRCm39) I104F unknown Het
Cry2 A G 2: 92,243,312 (GRCm39) S510P probably benign Het
Csmd2 G C 4: 128,439,944 (GRCm39) A3133P probably benign Het
Cyld G T 8: 89,459,621 (GRCm39) A611S probably damaging Het
Dennd4c G A 4: 86,743,749 (GRCm39) G1197E probably damaging Het
Dnah10 T C 5: 124,885,793 (GRCm39) F2969L probably benign Het
Dnai1 A G 4: 41,625,281 (GRCm39) K415R probably benign Het
Dnmbp T A 19: 43,842,610 (GRCm39) T1253S probably benign Het
Dsp T C 13: 38,379,678 (GRCm39) L1542P possibly damaging Het
Duox1 T A 2: 122,170,682 (GRCm39) L1234Q probably damaging Het
Efr3b T A 12: 4,018,590 (GRCm39) R585S possibly damaging Het
Gpt A G 15: 76,583,552 (GRCm39) probably null Het
Heatr6 G A 11: 83,644,544 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,930 (GRCm39) D431G probably benign Het
Kdm3b A G 18: 34,962,342 (GRCm39) N1543D probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mical3 G A 6: 120,935,232 (GRCm39) Q893* probably null Het
Morc3 C T 16: 93,663,341 (GRCm39) H515Y possibly damaging Het
Mprip A T 11: 59,648,547 (GRCm39) R750S probably damaging Het
Mroh1 G A 15: 76,335,691 (GRCm39) V1436M probably benign Het
Muc5ac C T 7: 141,344,406 (GRCm39) R69* probably null Het
Muc5b A T 7: 141,410,449 (GRCm39) Y1274F unknown Het
Mybpc1 A G 10: 88,378,318 (GRCm39) L674P probably damaging Het
Mypn A G 10: 62,966,802 (GRCm39) V958A probably benign Het
Nipbl T C 15: 8,326,302 (GRCm39) T2436A probably benign Het
Or7g20 A G 9: 18,946,443 (GRCm39) D8G probably benign Het
Pcdhb5 T A 18: 37,454,826 (GRCm39) L402Q probably damaging Het
Pigp T A 16: 94,171,053 (GRCm39) probably null Het
Rp1 A G 1: 4,418,685 (GRCm39) L809P probably benign Het
Scn3a T A 2: 65,325,125 (GRCm39) probably benign Het
Sdf2 A T 11: 78,136,906 (GRCm39) M29L probably benign Het
Serpina3b T G 12: 104,100,350 (GRCm39) L311V possibly damaging Het
Snx31 A T 15: 36,523,634 (GRCm39) Y349* probably null Het
Spidr A C 16: 15,932,733 (GRCm39) C182W probably damaging Het
St13 A T 15: 81,261,999 (GRCm39) S146R probably damaging Het
St8sia4 A G 1: 95,581,307 (GRCm39) V145A probably damaging Het
Stradb T C 1: 59,019,175 (GRCm39) probably null Het
Tcp11l2 T A 10: 84,430,661 (GRCm39) probably benign Het
Tfdp2 C T 9: 96,199,627 (GRCm39) P74S unknown Het
Tmprss15 C T 16: 78,854,547 (GRCm39) R287H probably benign Het
Trav10d T C 14: 53,048,779 (GRCm39) Y57H probably damaging Het
Vmn2r104 A G 17: 20,249,733 (GRCm39) I846T probably benign Het
Ywhah T A 5: 33,184,292 (GRCm39) M165K possibly damaging Het
Zfp324 C A 7: 12,703,293 (GRCm39) P72T probably benign Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Cfap52 APN 11 67,844,406 (GRCm39) missense possibly damaging 0.67
IGL02034:Cfap52 APN 11 67,837,118 (GRCm39) splice site probably null
IGL02530:Cfap52 APN 11 67,845,007 (GRCm39) splice site probably benign
IGL02558:Cfap52 APN 11 67,844,964 (GRCm39) missense probably benign 0.31
IGL02873:Cfap52 APN 11 67,822,608 (GRCm39) missense probably damaging 1.00
IGL02887:Cfap52 APN 11 67,844,341 (GRCm39) missense probably damaging 1.00
IGL02956:Cfap52 APN 11 67,844,901 (GRCm39) missense probably benign
IGL03068:Cfap52 APN 11 67,826,682 (GRCm39) missense probably benign 0.11
IGL03216:Cfap52 APN 11 67,844,932 (GRCm39) missense possibly damaging 0.81
IGL03287:Cfap52 APN 11 67,826,802 (GRCm39) unclassified probably benign
IGL03370:Cfap52 APN 11 67,829,881 (GRCm39) missense probably damaging 0.98
chewbacca UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0244:Cfap52 UTSW 11 67,817,208 (GRCm39) missense possibly damaging 0.90
R0306:Cfap52 UTSW 11 67,844,896 (GRCm39) missense probably benign
R0364:Cfap52 UTSW 11 67,844,436 (GRCm39) missense possibly damaging 0.80
R0440:Cfap52 UTSW 11 67,844,914 (GRCm39) missense probably benign
R0565:Cfap52 UTSW 11 67,840,425 (GRCm39) missense probably benign 0.00
R1068:Cfap52 UTSW 11 67,829,830 (GRCm39) missense probably benign 0.10
R1082:Cfap52 UTSW 11 67,815,998 (GRCm39) missense probably damaging 0.99
R1509:Cfap52 UTSW 11 67,829,819 (GRCm39) missense probably benign 0.00
R1894:Cfap52 UTSW 11 67,844,445 (GRCm39) critical splice acceptor site probably null
R2994:Cfap52 UTSW 11 67,830,617 (GRCm39) missense probably benign
R3954:Cfap52 UTSW 11 67,821,691 (GRCm39) missense probably benign
R4611:Cfap52 UTSW 11 67,817,247 (GRCm39) missense probably damaging 0.99
R4922:Cfap52 UTSW 11 67,822,548 (GRCm39) critical splice donor site probably null
R5624:Cfap52 UTSW 11 67,818,184 (GRCm39) missense possibly damaging 0.92
R5762:Cfap52 UTSW 11 67,844,947 (GRCm39) missense possibly damaging 0.71
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6260:Cfap52 UTSW 11 67,829,780 (GRCm39) missense possibly damaging 0.85
R7401:Cfap52 UTSW 11 67,840,459 (GRCm39) missense probably benign 0.02
R7580:Cfap52 UTSW 11 67,837,146 (GRCm39) missense probably damaging 1.00
R7831:Cfap52 UTSW 11 67,826,782 (GRCm39) missense possibly damaging 0.89
R7966:Cfap52 UTSW 11 67,844,571 (GRCm39) splice site probably null
R8303:Cfap52 UTSW 11 67,830,621 (GRCm39) missense probably benign 0.00
R8998:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R8999:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R9074:Cfap52 UTSW 11 67,822,656 (GRCm39) missense probably benign 0.32
R9169:Cfap52 UTSW 11 67,844,860 (GRCm39) missense possibly damaging 0.67
R9394:Cfap52 UTSW 11 67,815,921 (GRCm39) makesense probably null
R9645:Cfap52 UTSW 11 67,837,179 (GRCm39) missense possibly damaging 0.68
R9683:Cfap52 UTSW 11 67,822,639 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTCTTCTCAGAACCTTTTACTG -3'
(R):5'- CAAAGTCCTGGGTTTGTGTTGC -3'

Sequencing Primer
(F):5'- TATAACTCCAACTGCAGGGGATCTG -3'
(R):5'- CCTGGGTTTGTGTTGCTAGCC -3'
Posted On 2017-03-31