Incidental Mutation 'IGL01395:Cttn'
ID 79385
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 # IGL01395
Quality Score
Status
Chromosome 7
Chromosomal Location 143989468-144024743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144011464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
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 damaging
Transcript: ENSMUST00000033407
AA Change: V115A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: V115A

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 damaging
Transcript: ENSMUST00000103079
AA Change: V115A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: V115A

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: ENSMUST00000148778
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Cttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Cttn APN 7 144,015,043 (GRCm39) missense probably damaging 0.98
IGL02652:Cttn APN 7 143,995,468 (GRCm39) missense probably benign 0.00
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 2013-11-05