Incidental Mutation 'R2261:Cfap69'
ID 243788
Institutional Source Beutler Lab
Gene Symbol Cfap69
Ensembl Gene ENSMUSG00000040473
Gene Name cilia and flagella associated protein 69
Synonyms A330021E22Rik
MMRRC Submission 040261-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2261 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 5629284-5714232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5646018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 561 (V561F)
Ref Sequence ENSEMBL: ENSMUSP00000117518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148347] [ENSMUST00000196165]
AlphaFold Q8BH53
Predicted Effect probably damaging
Transcript: ENSMUST00000054865
AA Change: V561F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: V561F

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 847 860 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061008
AA Change: V504F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: V504F

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132510
SMART Domains Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135252
AA Change: V561F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: V561F

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148347
AA Change: V143F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: V143F

DomainStartEndE-ValueType
low complexity region 383 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196165
SMART Domains Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 676 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199314
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (60/61)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit faster response kinetics and stimuli integration to olfactory stimulation and impaired olfaction a buried food pellet test with a background of the same odor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,288 (GRCm39) M1384L probably benign Het
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Arhgap31 T A 16: 38,429,639 (GRCm39) Q412L probably damaging Het
Arsi T C 18: 61,049,737 (GRCm39) Y207H probably damaging Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Cacna1g T A 11: 94,347,961 (GRCm39) H709L probably benign Het
Cacna1h T C 17: 25,652,139 (GRCm39) T2A possibly damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Ces2h T A 8: 105,743,191 (GRCm39) M142K probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fam184a A G 10: 53,523,666 (GRCm39) probably null Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Flt3 G A 5: 147,284,873 (GRCm39) P748L probably benign Het
Gbp2b G A 3: 142,312,496 (GRCm39) S293N probably benign Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Gm12874 G A 4: 122,487,533 (GRCm39) noncoding transcript Het
Golgb1 T A 16: 36,713,722 (GRCm39) F234L probably damaging Het
Gpr65 A T 12: 98,241,494 (GRCm39) N49I probably damaging Het
Grip1 G A 10: 119,821,489 (GRCm39) V385M probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mast4 A G 13: 102,934,715 (GRCm39) probably benign Het
Mia3 A G 1: 183,115,647 (GRCm39) Y295H probably benign Het
Morc3 T A 16: 93,650,109 (GRCm39) probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Npy2r A G 3: 82,448,346 (GRCm39) V30A possibly damaging Het
Nsd2 A T 5: 34,042,871 (GRCm39) Q1045L probably damaging Het
Or51t4 T C 7: 102,598,464 (GRCm39) F254S probably damaging Het
Or5d40 T A 2: 88,015,965 (GRCm39) I248N probably damaging Het
Otub1 T A 19: 7,176,861 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhm2 C T 4: 141,370,043 (GRCm39) E29K probably damaging Het
Ralgapa2 T C 2: 146,184,603 (GRCm39) N1468S probably damaging Het
Rnf111 T C 9: 70,383,673 (GRCm39) S87G probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc20a1 A G 2: 129,048,394 (GRCm39) R260G possibly damaging Het
Slk T C 19: 47,625,791 (GRCm39) I1090T probably damaging Het
Spr-ps1 G T 6: 85,132,945 (GRCm39) noncoding transcript Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
St18 T A 1: 6,915,796 (GRCm39) C814S probably damaging Het
Stmn2 T C 3: 8,606,955 (GRCm39) F25S probably damaging Het
Taar3 A G 10: 23,826,053 (GRCm39) I200V probably benign Het
Tmem184c A G 8: 78,323,672 (GRCm39) Y397H probably damaging Het
Tmem184c T C 8: 78,323,804 (GRCm39) T353A probably damaging Het
Tuba1c A G 15: 98,935,757 (GRCm39) H406R probably damaging Het
Ubr4 T C 4: 139,140,773 (GRCm39) S1231P probably damaging Het
Ubr5 A T 15: 37,988,528 (GRCm39) D2143E probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q probably damaging Het
Zmym2 G A 14: 57,165,719 (GRCm39) E681K probably damaging Het
Other mutations in Cfap69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cfap69 APN 5 5,634,682 (GRCm39) missense probably damaging 1.00
IGL00234:Cfap69 APN 5 5,667,295 (GRCm39) missense probably benign 0.03
IGL00658:Cfap69 APN 5 5,675,857 (GRCm39) missense probably damaging 1.00
IGL00901:Cfap69 APN 5 5,669,162 (GRCm39) splice site probably benign
IGL01410:Cfap69 APN 5 5,696,979 (GRCm39) missense probably damaging 1.00
IGL01415:Cfap69 APN 5 5,696,979 (GRCm39) missense probably damaging 1.00
IGL01839:Cfap69 APN 5 5,676,027 (GRCm39) nonsense probably null
IGL01993:Cfap69 APN 5 5,631,284 (GRCm39) missense probably damaging 0.99
IGL02821:Cfap69 APN 5 5,714,017 (GRCm39) missense probably benign 0.01
IGL03212:Cfap69 APN 5 5,707,849 (GRCm39) critical splice acceptor site probably null
IGL03339:Cfap69 APN 5 5,636,436 (GRCm39) splice site probably benign
IGL03052:Cfap69 UTSW 5 5,639,206 (GRCm39) missense probably damaging 0.97
R0049:Cfap69 UTSW 5 5,663,734 (GRCm39) missense probably benign 0.45
R0049:Cfap69 UTSW 5 5,663,734 (GRCm39) missense probably benign 0.45
R0387:Cfap69 UTSW 5 5,639,303 (GRCm39) missense probably damaging 0.98
R0433:Cfap69 UTSW 5 5,699,853 (GRCm39) missense probably damaging 0.99
R0690:Cfap69 UTSW 5 5,713,951 (GRCm39) missense probably damaging 0.99
R0702:Cfap69 UTSW 5 5,694,465 (GRCm39) missense probably benign 0.27
R0718:Cfap69 UTSW 5 5,671,924 (GRCm39) missense probably damaging 1.00
R1525:Cfap69 UTSW 5 5,690,230 (GRCm39) splice site probably null
R1670:Cfap69 UTSW 5 5,636,409 (GRCm39) missense probably benign 0.27
R1677:Cfap69 UTSW 5 5,632,457 (GRCm39) missense probably damaging 1.00
R1857:Cfap69 UTSW 5 5,632,518 (GRCm39) missense possibly damaging 0.92
R1916:Cfap69 UTSW 5 5,713,970 (GRCm39) missense probably damaging 0.99
R1937:Cfap69 UTSW 5 5,643,818 (GRCm39) missense probably damaging 1.00
R2029:Cfap69 UTSW 5 5,654,306 (GRCm39) missense probably damaging 1.00
R2106:Cfap69 UTSW 5 5,645,979 (GRCm39) missense probably benign 0.05
R2177:Cfap69 UTSW 5 5,675,803 (GRCm39) missense probably damaging 1.00
R2939:Cfap69 UTSW 5 5,694,432 (GRCm39) missense probably damaging 0.99
R3706:Cfap69 UTSW 5 5,663,843 (GRCm39) nonsense probably null
R3876:Cfap69 UTSW 5 5,634,645 (GRCm39) splice site probably benign
R3893:Cfap69 UTSW 5 5,631,245 (GRCm39) missense probably damaging 1.00
R4033:Cfap69 UTSW 5 5,654,389 (GRCm39) missense possibly damaging 0.87
R4760:Cfap69 UTSW 5 5,696,939 (GRCm39) missense probably damaging 1.00
R4787:Cfap69 UTSW 5 5,696,934 (GRCm39) critical splice donor site probably null
R4932:Cfap69 UTSW 5 5,675,820 (GRCm39) missense probably damaging 1.00
R5215:Cfap69 UTSW 5 5,639,133 (GRCm39) missense possibly damaging 0.82
R5258:Cfap69 UTSW 5 5,654,271 (GRCm39) splice site probably null
R5596:Cfap69 UTSW 5 5,676,020 (GRCm39) missense probably damaging 1.00
R5673:Cfap69 UTSW 5 5,646,027 (GRCm39) missense possibly damaging 0.66
R5752:Cfap69 UTSW 5 5,639,204 (GRCm39) missense probably damaging 1.00
R5933:Cfap69 UTSW 5 5,690,183 (GRCm39) missense probably damaging 1.00
R6148:Cfap69 UTSW 5 5,713,996 (GRCm39) missense probably benign 0.03
R6511:Cfap69 UTSW 5 5,667,220 (GRCm39) missense probably damaging 0.98
R6550:Cfap69 UTSW 5 5,631,220 (GRCm39) missense probably benign 0.03
R6870:Cfap69 UTSW 5 5,671,958 (GRCm39) missense probably benign 0.26
R7455:Cfap69 UTSW 5 5,675,873 (GRCm39) missense possibly damaging 0.92
R7544:Cfap69 UTSW 5 5,645,936 (GRCm39) missense not run
R7547:Cfap69 UTSW 5 5,654,290 (GRCm39) missense possibly damaging 0.88
R7787:Cfap69 UTSW 5 5,639,260 (GRCm39) missense probably damaging 1.00
R8049:Cfap69 UTSW 5 5,669,085 (GRCm39) intron probably benign
R8110:Cfap69 UTSW 5 5,632,515 (GRCm39) missense possibly damaging 0.79
R8128:Cfap69 UTSW 5 5,646,034 (GRCm39) missense probably benign
R8306:Cfap69 UTSW 5 5,654,287 (GRCm39) missense probably benign 0.01
R9028:Cfap69 UTSW 5 5,696,958 (GRCm39) missense probably benign 0.02
R9106:Cfap69 UTSW 5 5,690,190 (GRCm39) missense possibly damaging 0.92
R9179:Cfap69 UTSW 5 5,676,064 (GRCm39) missense probably benign 0.30
R9199:Cfap69 UTSW 5 5,668,952 (GRCm39) missense possibly damaging 0.87
R9422:Cfap69 UTSW 5 5,699,851 (GRCm39) missense probably benign 0.00
R9585:Cfap69 UTSW 5 5,631,269 (GRCm39) missense possibly damaging 0.52
R9617:Cfap69 UTSW 5 5,639,164 (GRCm39) missense probably damaging 1.00
R9674:Cfap69 UTSW 5 5,697,021 (GRCm39) missense possibly damaging 0.68
R9697:Cfap69 UTSW 5 5,676,041 (GRCm39) missense possibly damaging 0.60
X0010:Cfap69 UTSW 5 5,694,503 (GRCm39) splice site probably null
Z1177:Cfap69 UTSW 5 5,636,384 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCCCTCTGGTGTACTTCTGAGG -3'
(R):5'- GCACACTGATTTTAAAGTGATTGCC -3'

Sequencing Primer
(F):5'- CTTCTGAGGGAAGCAAACAGTAGC -3'
(R):5'- ATTGGACTCCCTGAAACTGG -3'
Posted On 2014-10-16