Incidental Mutation 'R5669:2700049A03Rik'
ID 442526
Institutional Source Beutler Lab
Gene Symbol 2700049A03Rik
Ensembl Gene ENSMUSG00000034601
Gene Name RIKEN cDNA 2700049A03 gene
Synonyms talpid3
MMRRC Submission 043312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5669 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71136848-71243303 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 71164546 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 685 (E685*)
Ref Sequence ENSEMBL: ENSMUSP00000118956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045907] [ENSMUST00000149564]
AlphaFold E9PV87
Predicted Effect probably null
Transcript: ENSMUST00000045907
AA Change: E685*
SMART Domains Protein: ENSMUSP00000044701
Gene: ENSMUSG00000034601
AA Change: E685*

DomainStartEndE-ValueType
Pfam:TALPID3 116 1351 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149564
AA Change: E685*
SMART Domains Protein: ENSMUSP00000118956
Gene: ENSMUSG00000034601
AA Change: E685*

DomainStartEndE-ValueType
Pfam:TALPID3 116 1349 N/A PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,050,540 (GRCm38) L2734* probably null Het
Aldh1a1 T C 19: 20,610,920 (GRCm38) I25T probably damaging Het
Astl G T 2: 127,347,279 (GRCm38) R175L probably damaging Het
BC035947 A T 1: 78,497,913 (GRCm38) C661S probably damaging Het
Cd160 C T 3: 96,808,898 (GRCm38) probably benign Het
Cdc42bpb C T 12: 111,302,013 (GRCm38) probably null Het
Cdip1 T A 16: 4,768,815 (GRCm38) I149F probably damaging Het
Cfap65 T C 1: 74,924,968 (GRCm38) Y607C probably damaging Het
Col6a5 A G 9: 105,925,998 (GRCm38) I1256T unknown Het
Copb1 A G 7: 114,237,585 (GRCm38) V336A probably damaging Het
Ddx42 A T 11: 106,241,819 (GRCm38) D556V probably damaging Het
Dlk1 T C 12: 109,460,038 (GRCm38) V279A probably benign Het
Fbll1 T C 11: 35,797,584 (GRCm38) N284S probably benign Het
Fbxw21 A T 9: 109,145,510 (GRCm38) I314N probably benign Het
Foxa3 T C 7: 19,014,251 (GRCm38) T317A probably benign Het
Gm14139 A G 2: 150,192,178 (GRCm38) I140V probably benign Het
Gpr37 A T 6: 25,669,352 (GRCm38) C498S probably benign Het
Hapln3 G T 7: 79,117,496 (GRCm38) probably null Het
Igkv4-54 A G 6: 69,631,848 (GRCm38) V29A possibly damaging Het
Itgb8 T A 12: 119,190,628 (GRCm38) I225F probably damaging Het
Kcnk3 A G 5: 30,622,349 (GRCm38) T248A probably damaging Het
Kcnv1 T C 15: 45,114,252 (GRCm38) Q130R possibly damaging Het
Lrp1b T C 2: 41,111,038 (GRCm38) H2058R probably damaging Het
Macf1 T A 4: 123,476,225 (GRCm38) E1581V probably damaging Het
Mga A G 2: 119,903,426 (GRCm38) N252D probably damaging Het
Nadsyn1 C T 7: 143,807,431 (GRCm38) G335S probably damaging Het
Olfr1115 T C 2: 87,252,441 (GRCm38) V168A probably benign Het
Olfr58 T C 9: 19,783,757 (GRCm38) F208S probably benign Het
Pak7 G A 2: 136,116,284 (GRCm38) P295S probably damaging Het
Pcsk1 T A 13: 75,130,102 (GRCm38) S595T probably benign Het
Pepd T C 7: 35,040,674 (GRCm38) V324A probably benign Het
Pml C T 9: 58,247,063 (GRCm38) D176N probably benign Het
Popdc3 T A 10: 45,316,433 (GRCm38) I163N probably damaging Het
Ppp1r13l A C 7: 19,373,022 (GRCm38) T481P probably benign Het
Pramef12 T C 4: 144,395,843 (GRCm38) I44V probably benign Het
Prlh A G 1: 90,953,120 (GRCm38) T5A probably benign Het
Prom1 A G 5: 44,012,943 (GRCm38) F638S possibly damaging Het
Prpf8 T A 11: 75,504,738 (GRCm38) L1897H probably damaging Het
Ret T C 6: 118,184,243 (GRCm38) T91A probably benign Het
Retsat A G 6: 72,606,010 (GRCm38) S176G probably benign Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rnf213 T C 11: 119,458,785 (GRCm38) L3823P possibly damaging Het
Rnf31 C T 14: 55,596,704 (GRCm38) A653V probably damaging Het
Rps6kl1 T C 12: 85,147,867 (GRCm38) D90G probably damaging Het
Scarb1 A G 5: 125,300,387 (GRCm38) Y194H probably damaging Het
Scube2 C T 7: 109,825,439 (GRCm38) A556T probably benign Het
Serpinb1a A G 13: 32,845,316 (GRCm38) L243P probably damaging Het
Slc39a4 A C 15: 76,614,163 (GRCm38) L358R probably damaging Het
Slitrk5 A G 14: 111,681,623 (GRCm38) D893G probably damaging Het
Srgap1 C A 10: 121,804,850 (GRCm38) V681L probably benign Het
Tmprss6 A T 15: 78,454,956 (GRCm38) M262K possibly damaging Het
Ttf2 T A 3: 100,951,117 (GRCm38) K719* probably null Het
Vmn1r62 T A 7: 5,675,737 (GRCm38) L139* probably null Het
Other mutations in 2700049A03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:2700049A03Rik APN 12 71,167,119 (GRCm38) missense probably benign 0.00
IGL01107:2700049A03Rik APN 12 71,194,468 (GRCm38) critical splice donor site probably null
IGL01404:2700049A03Rik APN 12 71,164,378 (GRCm38) splice site probably null
IGL01835:2700049A03Rik APN 12 71,167,183 (GRCm38) missense probably benign 0.00
IGL01835:2700049A03Rik APN 12 71,167,181 (GRCm38) nonsense probably null
IGL02122:2700049A03Rik APN 12 71,170,525 (GRCm38) missense possibly damaging 0.93
IGL02140:2700049A03Rik APN 12 71,148,260 (GRCm38) missense probably benign 0.06
IGL02385:2700049A03Rik APN 12 71,154,856 (GRCm38) missense probably damaging 0.98
IGL03181:2700049A03Rik APN 12 71,193,373 (GRCm38) missense possibly damaging 0.51
IGL03253:2700049A03Rik APN 12 71,140,883 (GRCm38) missense probably benign 0.33
IGL03278:2700049A03Rik APN 12 71,158,825 (GRCm38) splice site probably benign
G4846:2700049A03Rik UTSW 12 71,137,909 (GRCm38) missense probably benign
PIT1430001:2700049A03Rik UTSW 12 71,160,386 (GRCm38) missense possibly damaging 0.71
PIT4519001:2700049A03Rik UTSW 12 71,170,666 (GRCm38) missense probably benign 0.05
R0108:2700049A03Rik UTSW 12 71,177,918 (GRCm38) missense probably benign 0.14
R0165:2700049A03Rik UTSW 12 71,167,150 (GRCm38) missense possibly damaging 0.52
R0211:2700049A03Rik UTSW 12 71,216,096 (GRCm38) missense possibly damaging 0.96
R0211:2700049A03Rik UTSW 12 71,216,096 (GRCm38) missense possibly damaging 0.96
R0220:2700049A03Rik UTSW 12 71,148,420 (GRCm38) critical splice donor site probably null
R0352:2700049A03Rik UTSW 12 71,138,030 (GRCm38) missense possibly damaging 0.96
R0468:2700049A03Rik UTSW 12 71,193,310 (GRCm38) missense possibly damaging 0.71
R0508:2700049A03Rik UTSW 12 71,164,388 (GRCm38) missense probably damaging 0.98
R0673:2700049A03Rik UTSW 12 71,177,868 (GRCm38) missense probably damaging 0.97
R0840:2700049A03Rik UTSW 12 71,158,883 (GRCm38) missense probably benign 0.16
R0893:2700049A03Rik UTSW 12 71,219,308 (GRCm38) splice site probably benign
R1244:2700049A03Rik UTSW 12 71,216,144 (GRCm38) missense probably benign 0.25
R1432:2700049A03Rik UTSW 12 71,170,587 (GRCm38) splice site probably null
R1599:2700049A03Rik UTSW 12 71,150,259 (GRCm38) missense probably damaging 0.98
R1732:2700049A03Rik UTSW 12 71,219,221 (GRCm38) missense probably benign 0.18
R1820:2700049A03Rik UTSW 12 71,150,244 (GRCm38) missense possibly damaging 0.51
R1939:2700049A03Rik UTSW 12 71,160,412 (GRCm38) splice site probably null
R1998:2700049A03Rik UTSW 12 71,188,619 (GRCm38) missense possibly damaging 0.86
R2337:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2337:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2340:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2340:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2382:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2382:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2384:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2384:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2445:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2445:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2449:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R2449:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R2512:2700049A03Rik UTSW 12 71,173,171 (GRCm38) missense possibly damaging 0.71
R2872:2700049A03Rik UTSW 12 71,154,756 (GRCm38) splice site probably benign
R3236:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3236:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3237:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3237:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3734:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3734:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3808:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3808:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3809:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3809:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3944:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3944:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3959:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3959:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R3960:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R3960:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4593:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4593:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4595:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4595:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4596:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4596:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4600:2700049A03Rik UTSW 12 71,148,263 (GRCm38) missense possibly damaging 0.67
R4649:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4649:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4651:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4651:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4652:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4652:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4714:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4714:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4735:2700049A03Rik UTSW 12 71,216,123 (GRCm38) missense possibly damaging 0.88
R4810:2700049A03Rik UTSW 12 71,189,442 (GRCm38) missense possibly damaging 0.51
R4852:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4852:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4854:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4854:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4855:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4855:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4884:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4884:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4893:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4893:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4905:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4905:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4915:2700049A03Rik UTSW 12 71,189,646 (GRCm38) missense possibly damaging 0.92
R4919:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4919:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4959:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4959:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R4989:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R4989:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5011:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5011:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5012:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5012:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5118:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5118:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5146:2700049A03Rik UTSW 12 71,243,025 (GRCm38) missense possibly damaging 0.85
R5163:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5163:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5188:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5188:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5189:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5189:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5189:2700049A03Rik UTSW 12 71,193,349 (GRCm38) missense possibly damaging 0.93
R5190:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5190:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5290:2700049A03Rik UTSW 12 71,188,791 (GRCm38) missense probably benign 0.00
R5344:2700049A03Rik UTSW 12 71,243,027 (GRCm38) missense probably benign
R5502:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5502:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5503:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5503:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5619:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5619:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5667:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5667:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5669:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5671:2700049A03Rik UTSW 12 71,164,547 (GRCm38) missense possibly damaging 0.93
R5671:2700049A03Rik UTSW 12 71,164,546 (GRCm38) nonsense probably null
R5725:2700049A03Rik UTSW 12 71,193,319 (GRCm38) missense probably benign 0.05
R5956:2700049A03Rik UTSW 12 71,157,119 (GRCm38) missense possibly damaging 0.86
R6051:2700049A03Rik UTSW 12 71,184,530 (GRCm38) missense possibly damaging 0.84
R6148:2700049A03Rik UTSW 12 71,187,426 (GRCm38) missense possibly damaging 0.71
R6158:2700049A03Rik UTSW 12 71,170,636 (GRCm38) missense possibly damaging 0.51
R6916:2700049A03Rik UTSW 12 71,164,544 (GRCm38) missense possibly damaging 0.86
R7129:2700049A03Rik UTSW 12 71,216,230 (GRCm38) splice site probably null
R7168:2700049A03Rik UTSW 12 71,216,057 (GRCm38) missense probably damaging 0.98
R7193:2700049A03Rik UTSW 12 71,219,189 (GRCm38) critical splice acceptor site probably null
R7200:2700049A03Rik UTSW 12 71,140,906 (GRCm38) missense probably damaging 0.96
R7359:2700049A03Rik UTSW 12 71,189,574 (GRCm38) missense possibly damaging 0.51
R7488:2700049A03Rik UTSW 12 71,150,405 (GRCm38) missense possibly damaging 0.67
R7755:2700049A03Rik UTSW 12 71,189,413 (GRCm38) missense probably benign 0.02
R7757:2700049A03Rik UTSW 12 71,189,413 (GRCm38) missense probably benign 0.02
R7922:2700049A03Rik UTSW 12 71,164,406 (GRCm38) missense possibly damaging 0.83
R7966:2700049A03Rik UTSW 12 71,173,129 (GRCm38) missense probably benign 0.00
R8082:2700049A03Rik UTSW 12 71,142,121 (GRCm38) critical splice donor site probably null
R8311:2700049A03Rik UTSW 12 71,138,041 (GRCm38) unclassified probably benign
R8408:2700049A03Rik UTSW 12 71,189,582 (GRCm38) missense possibly damaging 0.71
R8852:2700049A03Rik UTSW 12 71,184,423 (GRCm38) missense possibly damaging 0.93
R8860:2700049A03Rik UTSW 12 71,184,423 (GRCm38) missense possibly damaging 0.93
R9039:2700049A03Rik UTSW 12 71,167,075 (GRCm38) missense possibly damaging 0.51
R9281:2700049A03Rik UTSW 12 71,158,913 (GRCm38) missense possibly damaging 0.51
R9308:2700049A03Rik UTSW 12 71,184,459 (GRCm38) missense probably benign 0.23
R9385:2700049A03Rik UTSW 12 71,161,192 (GRCm38) missense possibly damaging 0.52
R9412:2700049A03Rik UTSW 12 71,188,683 (GRCm38) missense possibly damaging 0.71
R9643:2700049A03Rik UTSW 12 71,164,415 (GRCm38) missense possibly damaging 0.92
R9676:2700049A03Rik UTSW 12 71,161,131 (GRCm38) missense possibly damaging 0.86
R9776:2700049A03Rik UTSW 12 71,188,674 (GRCm38) missense possibly damaging 0.71
R9789:2700049A03Rik UTSW 12 71,184,583 (GRCm38) missense probably benign
Z1177:2700049A03Rik UTSW 12 71,164,484 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGACCTTTTATGTTTCCTAGGTGG -3'
(R):5'- TGTTCCCTGGCAGATAACGG -3'

Sequencing Primer
(F):5'- AACATGTTTTGCATTGGTAGGGCC -3'
(R):5'- TAACGGTACTGAAGCTCTGC -3'
Posted On 2016-11-09