Incidental Mutation 'IGL02952:Cetn2'
ID 364978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cetn2
Ensembl Gene ENSMUSG00000031347
Gene Name centrin 2
Synonyms 1110034A02Rik, caltractin
Accession Numbers
Essential gene? Not available question?
Stock # IGL02952
Quality Score
Status
Chromosome X
Chromosomal Location 71957137-71961967 bp(-) (GRCm39)
Type of Mutation splice site (706 bp from exon)
DNA Base Change (assembly) T to C at 71957808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033713] [ENSMUST00000033715] [ENSMUST00000114550] [ENSMUST00000114551] [ENSMUST00000152200]
AlphaFold Q9R1K9
Predicted Effect probably benign
Transcript: ENSMUST00000033713
SMART Domains Protein: ENSMUSP00000033713
Gene: ENSMUSG00000031347

DomainStartEndE-ValueType
EFh 23 51 3.37e-8 SMART
EFh 59 87 1.48e-4 SMART
EFh 96 124 1.46e-3 SMART
EFh 132 160 1.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033715
SMART Domains Protein: ENSMUSP00000033715
Gene: ENSMUSG00000031349

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 27 284 1.1e-12 PFAM
Pfam:Polysacc_synt_2 29 140 3.7e-9 PFAM
Pfam:Epimerase 29 256 2e-36 PFAM
Pfam:GDP_Man_Dehyd 30 260 1.9e-19 PFAM
Pfam:3Beta_HSD 30 286 2e-64 PFAM
Pfam:NAD_binding_4 54 235 1.6e-6 PFAM
low complexity region 288 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114550
SMART Domains Protein: ENSMUSP00000110197
Gene: ENSMUSG00000031347

DomainStartEndE-ValueType
EFh 23 51 3.37e-8 SMART
EFh 59 87 1.48e-4 SMART
EFh 96 124 1.46e-3 SMART
EFh 132 160 1.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114551
SMART Domains Protein: ENSMUSP00000110198
Gene: ENSMUSG00000031347

DomainStartEndE-ValueType
EFh 32 60 3.37e-8 SMART
EFh 68 96 1.48e-4 SMART
EFh 105 133 1.46e-3 SMART
EFh 141 169 1.19e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000152200
SMART Domains Protein: ENSMUSP00000117704
Gene: ENSMUSG00000031347

DomainStartEndE-ValueType
EFh 23 51 3.37e-8 SMART
EFh 59 87 1.48e-4 SMART
internal_repeat_1 91 110 3.36e-6 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display dysosmia due to impaired ciliary transport of olfactory signaling proteins, olfactory cilia loss, and defective basal body positioning, and develop hydrocephalus caused by impaired CSF flow and disrupted ependymal cilia planar cell polarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,984 (GRCm39) D1436V probably damaging Het
Abca7 G T 10: 79,843,242 (GRCm39) R1239L probably damaging Het
Acp2 T C 2: 91,038,788 (GRCm39) probably benign Het
Adamts4 A G 1: 171,078,917 (GRCm39) N179S probably damaging Het
Adgrv1 T C 13: 81,581,755 (GRCm39) D4763G probably benign Het
Atp11b T C 3: 35,882,844 (GRCm39) V633A probably damaging Het
Cadm2 A T 16: 66,461,338 (GRCm39) I342K probably damaging Het
Capn10 T C 1: 92,872,896 (GRCm39) S541P probably damaging Het
Ccnf A G 17: 24,450,299 (GRCm39) L462P possibly damaging Het
Cdc27 T C 11: 104,408,290 (GRCm39) Y546C probably damaging Het
Cep120 G T 18: 53,816,300 (GRCm39) probably benign Het
Cyp1a1 C T 9: 57,609,993 (GRCm39) S469L probably benign Het
Dnah17 G A 11: 117,979,094 (GRCm39) T1766I probably benign Het
Doc2g G A 19: 4,056,719 (GRCm39) G345D possibly damaging Het
Dock4 T C 12: 40,760,902 (GRCm39) probably null Het
Dop1a T A 9: 86,414,975 (GRCm39) probably benign Het
Emilin2 C A 17: 71,587,816 (GRCm39) V99F probably damaging Het
Exoc8 A G 8: 125,624,275 (GRCm39) S31P probably benign Het
Gask1b T C 3: 79,793,646 (GRCm39) L38P probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Gm9742 T A 13: 8,079,930 (GRCm39) noncoding transcript Het
Gpr160 T C 3: 30,950,443 (GRCm39) Y172H probably benign Het
Ifnk T A 4: 35,152,495 (GRCm39) L141Q probably damaging Het
Klhl36 A G 8: 120,597,223 (GRCm39) E308G probably benign Het
Lrp1b T C 2: 41,396,715 (GRCm39) I450M probably benign Het
Noxa1 T C 2: 24,981,773 (GRCm39) Y110C probably damaging Het
Or10ad1 T C 15: 98,105,470 (GRCm39) Y265C probably damaging Het
Pkd2 A T 5: 104,628,026 (GRCm39) T367S possibly damaging Het
Polg2 T C 11: 106,663,539 (GRCm39) I385V possibly damaging Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Prr14l A G 5: 32,993,014 (GRCm39) S17P unknown Het
Prss22 C A 17: 24,215,697 (GRCm39) C75F probably damaging Het
Ptgs1 A G 2: 36,141,253 (GRCm39) K567E probably benign Het
Ptprz1 A G 6: 23,036,925 (GRCm39) I1141M probably damaging Het
R3hcc1l A G 19: 42,552,433 (GRCm39) K477E probably damaging Het
Riok1 A G 13: 38,232,866 (GRCm39) Y194C probably damaging Het
Smr2 T A 5: 88,236,095 (GRCm39) C16S possibly damaging Het
Stk25 A T 1: 93,553,798 (GRCm39) I187N probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Vmn2r3 T C 3: 64,186,256 (GRCm39) E143G probably damaging Het
Other mutations in Cetn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Cetn2 APN X 71,958,527 (GRCm39) missense probably damaging 1.00
Z1176:Cetn2 UTSW X 71,958,495 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18