Incidental Mutation 'R5916:Cfap210'
ID 461306
Institutional Source Beutler Lab
Gene Symbol Cfap210
Ensembl Gene ENSMUSG00000070883
Gene Name cilia and flagella associated protein 210
Synonyms 4930578N16Rik, 4930525K21Rik, Ccdc173
MMRRC Submission 044113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5916 (G1)
Quality Score 148
Status Not validated
Chromosome 2
Chromosomal Location 69588377-69619919 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 69619806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000092548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028494] [ENSMUST00000094942] [ENSMUST00000112266] [ENSMUST00000151298] [ENSMUST00000180290]
AlphaFold A0JLY1
Predicted Effect probably benign
Transcript: ENSMUST00000028494
SMART Domains Protein: ENSMUSP00000028494
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 1.2e-98 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094942
AA Change: M1K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: M1K

DomainStartEndE-ValueType
coiled coil region 47 131 N/A INTRINSIC
Pfam:TPH 142 475 8.9e-22 PFAM
low complexity region 494 508 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112266
SMART Domains Protein: ENSMUSP00000107885
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 9.3e-99 PFAM
Pfam:HAD_2 5 128 8.9e-7 PFAM
Pfam:HAD 5 187 3.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131100
Predicted Effect probably benign
Transcript: ENSMUST00000151298
SMART Domains Protein: ENSMUSP00000118021
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 51 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180290
SMART Domains Protein: ENSMUSP00000136471
Gene: ENSMUSG00000027088

DomainStartEndE-ValueType
Pfam:Put_Phosphatase 3 239 9.3e-99 PFAM
Pfam:HAD_2 5 128 8.9e-7 PFAM
Pfam:HAD 5 187 3.2e-15 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.2%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,349,550 (GRCm39) N269I possibly damaging Het
Abcc1 G T 16: 14,283,006 (GRCm39) V1161F possibly damaging Het
Adam3 A T 8: 25,174,555 (GRCm39) probably null Het
Agt A T 8: 125,290,597 (GRCm39) S237T possibly damaging Het
Ano3 A T 2: 110,512,181 (GRCm39) F674L probably benign Het
Asb2 G T 12: 103,290,135 (GRCm39) A504E probably damaging Het
Atp13a1 T A 8: 70,259,748 (GRCm39) I1113N probably damaging Het
Atxn7l2 T C 3: 108,112,978 (GRCm39) probably null Het
Bambi A G 18: 3,511,463 (GRCm39) T95A probably benign Het
Clrn1 T C 3: 58,753,783 (GRCm39) T193A probably benign Het
Colgalt2 T A 1: 152,379,873 (GRCm39) D437E probably damaging Het
Dchs1 C A 7: 105,408,373 (GRCm39) A1820S probably damaging Het
Dnah12 T A 14: 26,428,073 (GRCm39) I233N possibly damaging Het
Dsc3 T C 18: 20,120,077 (GRCm39) N194D probably damaging Het
Dync2h1 A G 9: 7,102,309 (GRCm39) probably null Het
Erich3 A T 3: 154,401,460 (GRCm39) R36S probably damaging Het
Fam243 T A 16: 92,117,559 (GRCm39) E243V probably damaging Het
Fmnl3 A T 15: 99,219,709 (GRCm39) C680S probably damaging Het
Focad T C 4: 88,275,778 (GRCm39) L1129P unknown Het
Fzd3 G A 14: 65,440,178 (GRCm39) T664I probably benign Het
Glb1l3 T C 9: 26,766,032 (GRCm39) I129V probably benign Het
Heatr1 T C 13: 12,449,352 (GRCm39) F1950S probably damaging Het
Herc6 G A 6: 57,623,188 (GRCm39) G597E probably benign Het
Hmcn2 T A 2: 31,286,151 (GRCm39) V2101D probably damaging Het
Il17re T A 6: 113,447,084 (GRCm39) C612S probably damaging Het
Il36g T G 2: 24,082,806 (GRCm39) *194E probably null Het
Junb T C 8: 85,704,505 (GRCm39) Y185C probably benign Het
Lrriq1 G A 10: 103,057,243 (GRCm39) Q186* probably null Het
Lrrn2 T A 1: 132,865,538 (GRCm39) V201E probably damaging Het
Ly6l A T 15: 75,323,027 (GRCm39) T68S probably benign Het
Marchf1 G T 8: 66,839,763 (GRCm39) R182L possibly damaging Het
Megf6 A G 4: 154,333,882 (GRCm39) probably null Het
Mga T A 2: 119,794,793 (GRCm39) S2708T probably benign Het
Mx1 T C 16: 97,252,933 (GRCm39) T396A probably benign Het
Naip5 A C 13: 100,359,209 (GRCm39) S676A probably benign Het
Npepl1 G T 2: 173,963,337 (GRCm39) W456C probably benign Het
Ntrk2 A G 13: 58,956,543 (GRCm39) M1V probably null Het
Nufip1 T C 14: 76,372,340 (GRCm39) *485Q probably null Het
Ocln T G 13: 100,642,687 (GRCm39) D216A possibly damaging Het
Or10x1 A T 1: 174,196,698 (GRCm39) T72S probably damaging Het
Or1o11 C T 17: 37,756,570 (GRCm39) L53F probably benign Het
Or4f57 A G 2: 111,791,175 (GRCm39) M81T probably damaging Het
Or55b4 G A 7: 102,133,586 (GRCm39) S247F probably damaging Het
Ptprq A T 10: 107,359,374 (GRCm39) M2243K probably damaging Het
Rad51b C T 12: 79,371,856 (GRCm39) Q190* probably null Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rfx8 T C 1: 39,727,779 (GRCm39) Y182C probably benign Het
Rpgrip1l C A 8: 91,979,541 (GRCm39) R967L possibly damaging Het
Scube2 A G 7: 109,430,931 (GRCm39) Y423H possibly damaging Het
Sipa1l2 A T 8: 126,195,312 (GRCm39) Y809N probably damaging Het
Slc35f1 C A 10: 52,809,317 (GRCm39) Y101* probably null Het
Tbc1d22a A G 15: 86,098,809 (GRCm39) K12E possibly damaging Het
Tent2 T C 13: 93,312,055 (GRCm39) D215G probably damaging Het
Tmcc2 C T 1: 132,285,429 (GRCm39) V646M probably damaging Het
Tpp1 A T 7: 105,398,587 (GRCm39) M243K probably damaging Het
Trappc12 A G 12: 28,741,513 (GRCm39) L732P probably damaging Het
U2af2 A T 7: 5,082,179 (GRCm39) probably null Het
Utrn T A 10: 12,540,795 (GRCm39) N1877Y probably damaging Het
Vsir C T 10: 60,193,816 (GRCm39) T93I probably damaging Het
Zkscan5 T A 5: 145,142,112 (GRCm39) M3K possibly damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Cfap210
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Cfap210 APN 2 69,602,328 (GRCm39) missense probably benign
IGL01768:Cfap210 APN 2 69,612,471 (GRCm39) splice site probably benign
IGL01801:Cfap210 APN 2 69,606,623 (GRCm39) splice site probably benign
R0553:Cfap210 UTSW 2 69,619,785 (GRCm39) missense probably damaging 1.00
R1226:Cfap210 UTSW 2 69,617,553 (GRCm39) missense possibly damaging 0.63
R1867:Cfap210 UTSW 2 69,612,181 (GRCm39) splice site probably null
R4821:Cfap210 UTSW 2 69,612,452 (GRCm39) missense possibly damaging 0.76
R5309:Cfap210 UTSW 2 69,617,602 (GRCm39) missense possibly damaging 0.92
R5312:Cfap210 UTSW 2 69,617,602 (GRCm39) missense possibly damaging 0.92
R6072:Cfap210 UTSW 2 69,602,402 (GRCm39) missense probably benign 0.31
R6232:Cfap210 UTSW 2 69,602,398 (GRCm39) missense possibly damaging 0.64
R6236:Cfap210 UTSW 2 69,588,385 (GRCm39) splice site probably null
R6909:Cfap210 UTSW 2 69,612,192 (GRCm39) splice site probably null
R7497:Cfap210 UTSW 2 69,588,792 (GRCm39) missense probably benign 0.04
R7502:Cfap210 UTSW 2 69,606,488 (GRCm39) missense probably benign
R7786:Cfap210 UTSW 2 69,612,092 (GRCm39) missense probably damaging 1.00
R7934:Cfap210 UTSW 2 69,612,450 (GRCm39) nonsense probably null
R8316:Cfap210 UTSW 2 69,612,287 (GRCm39) critical splice donor site probably null
R8905:Cfap210 UTSW 2 69,612,104 (GRCm39) missense probably benign 0.01
R8977:Cfap210 UTSW 2 69,617,643 (GRCm39) missense possibly damaging 0.55
R9117:Cfap210 UTSW 2 69,612,103 (GRCm39) nonsense probably null
R9163:Cfap210 UTSW 2 69,606,510 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CTGGGACTGCTTTCGACTTG -3'
(R):5'- ACGTAACAACTGACAGGGTC -3'

Sequencing Primer
(F):5'- GACTGCTTTCGACTTGGTTAAAGCC -3'
(R):5'- TTACGCAGCCGGTGAACTG -3'
Posted On 2017-02-28