Incidental Mutation 'R4578:Cttn'
ID343418
Institutional Source Beutler Lab
Gene Symbol Cttn
Ensembl Gene ENSMUSG00000031078
Gene Namecortactin
SynonymsEms1, 1110020L01Rik
MMRRC Submission 041800-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.364) question?
Stock #R4578 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location144435733-144471009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144454716 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 176 (F176L)
Ref Sequence ENSEMBL: ENSMUSP00000099368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033407] [ENSMUST00000103079]
PDB Structure
[]
Lysozyme contamination facilitates crystallization of a hetero-trimericCortactin:Arg:Lysozyme complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000033407
AA Change: F176L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: F176L

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: F176L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: F176L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157079
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,736,671 Y440* probably null Het
Aldh3b3 A T 19: 3,964,832 T110S probably benign Het
Atp2b2 T C 6: 113,760,711 T901A probably damaging Het
Auts2 C T 5: 132,258,934 G70E probably benign Het
Bfar A T 16: 13,687,443 I106F probably benign Het
Btbd10 T G 7: 113,322,752 I301L possibly damaging Het
Card14 G A 11: 119,326,741 R400H probably benign Het
Ccdc80 A G 16: 45,095,486 R202G probably damaging Het
Cmtm7 A C 9: 114,763,283 I82S probably benign Het
Cngb3 T A 4: 19,425,613 W474R probably damaging Het
Coq9 T C 8: 94,853,606 V285A probably benign Het
Cp A G 3: 19,973,888 E486G probably damaging Het
Crybg3 C T 16: 59,530,201 C892Y probably damaging Het
Cytip T A 2: 58,160,012 N15I possibly damaging Het
Dgkb A G 12: 38,427,493 E634G possibly damaging Het
Duox1 A G 2: 122,333,777 E906G probably benign Het
Efcab6 A T 15: 83,933,168 S735T probably benign Het
Elfn1 T C 5: 139,972,053 S271P probably benign Het
Ep300 T A 15: 81,611,410 probably benign Het
Ep300 T C 15: 81,649,009 S1756P unknown Het
Ercc5 T A 1: 44,148,148 V29E probably benign Het
Fam166a T C 2: 25,220,288 S71P probably benign Het
Frmd4a C A 2: 4,603,679 A786E possibly damaging Het
Ftcd A C 10: 76,589,258 E524D probably benign Het
Gfod2 T C 8: 105,728,246 M1V probably null Het
Gm12790 T C 4: 101,968,127 D30G probably benign Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Gsta4 A T 9: 78,206,020 R127S probably benign Het
Hcn2 G A 10: 79,724,448 probably null Het
Hectd1 A G 12: 51,751,932 V2135A probably damaging Het
Hoxc6 A G 15: 103,009,661 D19G probably benign Het
Hydin A T 8: 110,267,339 T2S unknown Het
Ifna14 A T 4: 88,571,510 S97T possibly damaging Het
Igkv17-127 T C 6: 67,861,199 L14P unknown Het
Il17rb A G 14: 30,002,399 V166A probably damaging Het
Iqca T A 1: 90,073,750 I520F probably damaging Het
Kcnv2 G T 19: 27,323,594 V282L probably benign Het
Klk12 A G 7: 43,773,243 D198G probably damaging Het
Kntc1 T G 5: 123,765,955 L345R probably damaging Het
Lrfn5 A G 12: 61,843,977 D684G probably benign Het
Mef2a T C 7: 67,240,439 N131S probably benign Het
Mis18bp1 T C 12: 65,153,881 Y124C probably damaging Het
Myh2 T A 11: 67,173,258 V48D possibly damaging Het
Nat10 A G 2: 103,754,072 M120T probably damaging Het
Nf1 T C 11: 79,445,759 S1065P probably damaging Het
Nfib A T 4: 82,296,811 S518R probably damaging Het
Pced1a A C 2: 130,422,676 L78R probably damaging Het
Peli3 T C 19: 4,934,458 D192G probably benign Het
Plb1 C T 5: 32,247,557 Q20* probably null Het
Pomgnt2 G A 9: 121,983,065 R217C probably damaging Het
Ptprd C T 4: 76,243,786 V78I possibly damaging Het
Rngtt A G 4: 33,339,050 E285G probably benign Het
Sclt1 G A 3: 41,671,465 Q356* probably null Het
Scn2b T C 9: 45,126,162 F169S possibly damaging Het
Sfta2 C T 17: 35,649,883 probably benign Het
Srpr T C 9: 35,214,608 I394T possibly damaging Het
Sspo A C 6: 48,463,373 D1541A possibly damaging Het
Strc G A 2: 121,378,003 L296F possibly damaging Het
Svop C T 5: 114,065,682 V13M probably damaging Het
Taf6l C A 19: 8,783,971 R10L possibly damaging Het
Tbx3 G T 5: 119,682,776 R617L probably damaging Het
Tnrc6a A G 7: 123,184,221 R1471G possibly damaging Het
Togaram1 T C 12: 65,020,326 L1714P probably damaging Het
Traf3ip2 A G 10: 39,634,654 N308D probably damaging Het
Trim30b T C 7: 104,357,331 Y106C possibly damaging Het
Vcp A T 4: 42,984,565 M442K probably benign Het
Vmn2r16 A T 5: 109,363,799 Y624F possibly damaging Het
Vmn2r52 A T 7: 10,170,690 H407Q probably damaging Het
Vps13a A T 19: 16,682,110 D1684E probably damaging Het
Wdr49 T C 3: 75,335,243 M380V probably benign Het
Other mutations in Cttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Cttn APN 7 144457727 missense probably damaging 0.99
IGL01432:Cttn APN 7 144461306 missense probably damaging 0.98
IGL02652:Cttn APN 7 144441731 missense probably benign 0.00
PIT4377001:Cttn UTSW 7 144440096 missense possibly damaging 0.71
R0226:Cttn UTSW 7 144441852 splice site probably benign
R0346:Cttn UTSW 7 144452539 splice site probably benign
R1220:Cttn UTSW 7 144463962 missense probably benign
R3807:Cttn UTSW 7 144445851 missense probably damaging 1.00
R4080:Cttn UTSW 7 144457724 missense probably damaging 1.00
R5806:Cttn UTSW 7 144461268 missense probably damaging 0.99
R6835:Cttn UTSW 7 144456497 critical splice acceptor site probably null
R6985:Cttn UTSW 7 144452587 nonsense probably null
R7883:Cttn UTSW 7 144445818 missense probably benign 0.00
R8143:Cttn UTSW 7 144461262 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTATAAATGTAGCTTCTCTTCTGGC -3'
(R):5'- CCAAGGTCATCCTAAAGAATGC -3'

Sequencing Primer
(F):5'- TTCTGGCTTCCACACAAAGC -3'
(R):5'- AAGAATGCAACCCTTGTGTTCC -3'
Posted On2015-09-24