Incidental Mutation 'IGL02652:Cttn'
ID 302182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cttn
Ensembl Gene ENSMUSG00000031078
Gene Name cortactin
Synonyms 1110020L01Rik, Ems1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # IGL02652
Quality Score
Status
Chromosome 7
Chromosomal Location 143989468-144024743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143995468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 382 (Q382K)
Ref Sequence ENSEMBL: ENSMUSP00000099368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033407] [ENSMUST00000103079]
AlphaFold Q60598
PDB Structure Lysozyme contamination facilitates crystallization of a hetero-trimericCortactin:Arg:Lysozyme complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000033407
AA Change: Q345K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: Q345K

DomainStartEndE-ValueType
Pfam:HS1_rep 83 119 1.3e-22 PFAM
Pfam:HS1_rep 120 156 8.6e-25 PFAM
Pfam:HS1_rep 157 193 3.4e-25 PFAM
Pfam:HS1_rep 194 230 1.9e-23 PFAM
Pfam:HS1_rep 231 267 1.2e-24 PFAM
Pfam:HS1_rep 268 293 2.4e-10 PFAM
coiled coil region 311 364 N/A INTRINSIC
SH3 454 509 6.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103079
AA Change: Q382K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: Q382K

DomainStartEndE-ValueType
Pfam:HS1_rep 83 118 2.7e-22 PFAM
Pfam:HS1_rep 120 155 2.9e-23 PFAM
Pfam:HS1_rep 157 192 8.2e-24 PFAM
Pfam:HS1_rep 194 229 7.5e-22 PFAM
Pfam:HS1_rep 231 266 6.6e-25 PFAM
Pfam:HS1_rep 268 303 2.3e-22 PFAM
Pfam:HS1_rep 305 332 4.3e-13 PFAM
coiled coil region 348 401 N/A INTRINSIC
SH3 491 546 6.84e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157079
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit abnormal early zygote development and die prior to the 2-cell stage. Mice homozygous for a different knock-out allele exhibit increased permeability in vascular and lung endothelial cells and impaired neutrophil extravasation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Cttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Cttn APN 7 144,011,464 (GRCm39) missense probably damaging 0.99
IGL01432:Cttn APN 7 144,015,043 (GRCm39) missense probably damaging 0.98
PIT4377001:Cttn UTSW 7 143,993,833 (GRCm39) missense possibly damaging 0.71
R0226:Cttn UTSW 7 143,995,589 (GRCm39) splice site probably benign
R0346:Cttn UTSW 7 144,006,276 (GRCm39) splice site probably benign
R1220:Cttn UTSW 7 144,017,699 (GRCm39) missense probably benign
R3807:Cttn UTSW 7 143,999,588 (GRCm39) missense probably damaging 1.00
R4080:Cttn UTSW 7 144,011,461 (GRCm39) missense probably damaging 1.00
R4578:Cttn UTSW 7 144,008,453 (GRCm39) missense probably damaging 1.00
R5806:Cttn UTSW 7 144,015,005 (GRCm39) missense probably damaging 0.99
R6835:Cttn UTSW 7 144,010,234 (GRCm39) critical splice acceptor site probably null
R6985:Cttn UTSW 7 144,006,324 (GRCm39) nonsense probably null
R7883:Cttn UTSW 7 143,999,555 (GRCm39) missense probably benign 0.00
R8143:Cttn UTSW 7 144,014,999 (GRCm39) nonsense probably null
R9319:Cttn UTSW 7 144,017,100 (GRCm39) missense probably damaging 0.99
R9663:Cttn UTSW 7 144,011,461 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16