Incidental Mutation 'R0226:Cttn'
ID 33924
Institutional Source Beutler Lab
Gene Symbol Cttn
Ensembl Gene ENSMUSG00000031078
Gene Name cortactin
Synonyms Ems1, 1110020L01Rik
MMRRC Submission 038471-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R0226 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144435733-144471009 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 144441852 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078

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
SMART Domains Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,142,120 (GRCm38) T54K possibly damaging Het
2210408I21Rik A T 13: 77,303,425 (GRCm38) E876V possibly damaging Het
Aasdh A T 5: 76,902,002 (GRCm38) L49Q probably damaging Het
Abca8b T C 11: 109,957,018 (GRCm38) probably null Het
Ablim1 A T 19: 57,043,870 (GRCm38) L556Q probably damaging Het
Afdn A G 17: 13,899,146 (GRCm38) T1700A probably benign Het
Agl G A 3: 116,752,071 (GRCm38) R1359C probably damaging Het
Agpat3 T A 10: 78,278,029 (GRCm38) H275L possibly damaging Het
Ahcyl1 A T 3: 107,670,270 (GRCm38) C180* probably null Het
Aim2 A G 1: 173,462,333 (GRCm38) probably benign Het
Angpt1 T C 15: 42,468,235 (GRCm38) N320S probably benign Het
Ankrd52 T A 10: 128,389,858 (GRCm38) probably null Het
Ap1g1 C T 8: 109,855,062 (GRCm38) S654L probably benign Het
Bpifa1 T A 2: 154,146,057 (GRCm38) S173R probably benign Het
Brd8 T C 18: 34,603,894 (GRCm38) probably benign Het
Btbd9 C T 17: 30,274,942 (GRCm38) D492N possibly damaging Het
C1qtnf2 A G 11: 43,490,843 (GRCm38) T161A probably benign Het
Car6 T C 4: 150,187,508 (GRCm38) Y228C probably damaging Het
Ccdc149 A G 5: 52,400,217 (GRCm38) L273P probably damaging Het
Cit G A 5: 115,984,840 (GRCm38) R1405Q probably damaging Het
Cox17 T C 16: 38,349,276 (GRCm38) L48P probably damaging Het
Cyp4f18 T C 8: 71,989,775 (GRCm38) probably benign Het
Dtnbp1 A G 13: 44,923,193 (GRCm38) L175P probably damaging Het
Efl1 T C 7: 82,693,011 (GRCm38) probably benign Het
Fbn1 C T 2: 125,320,910 (GRCm38) R2152Q possibly damaging Het
Fignl1 A T 11: 11,801,061 (GRCm38) S665T probably benign Het
Gm9843 A T 16: 76,403,561 (GRCm38) noncoding transcript Het
Gpr155 C T 2: 73,367,592 (GRCm38) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm38) probably benign Het
Hdgfl1 A T 13: 26,769,996 (GRCm38) H31Q probably benign Het
Heatr1 T C 13: 12,410,562 (GRCm38) S628P probably damaging Het
Hivep2 A G 10: 14,129,712 (GRCm38) T685A probably benign Het
Hmgcl T G 4: 135,958,728 (GRCm38) V168G probably damaging Het
Itch T C 2: 155,199,394 (GRCm38) I454T probably benign Het
Itih2 T C 2: 10,115,299 (GRCm38) D309G possibly damaging Het
Kcmf1 T C 6: 72,842,952 (GRCm38) I304V probably benign Het
Kcnh1 G T 1: 192,276,805 (GRCm38) W222C probably damaging Het
Kcnh1 G A 1: 192,276,804 (GRCm38) W222* probably null Het
Kif24 T A 4: 41,414,939 (GRCm38) K287* probably null Het
Lrig3 A G 10: 125,972,117 (GRCm38) probably benign Het
Lrp2 A T 2: 69,537,563 (GRCm38) C202S probably null Het
Lrrc37 A T 11: 103,603,241 (GRCm38) F663L probably benign Het
Lrrn2 A G 1: 132,937,820 (GRCm38) N208D probably damaging Het
Mcm5 C T 8: 75,126,252 (GRCm38) T664I possibly damaging Het
Mfsd10 A G 5: 34,634,446 (GRCm38) L365S probably benign Het
Mfsd6 A G 1: 52,658,690 (GRCm38) probably benign Het
Mgat4e A G 1: 134,541,103 (GRCm38) V401A probably benign Het
Mllt3 C A 4: 87,840,732 (GRCm38) V360L probably benign Het
Mrm1 G A 11: 84,819,170 (GRCm38) A68V possibly damaging Het
Myo19 A G 11: 84,897,732 (GRCm38) probably benign Het
Myo3b A G 2: 70,217,166 (GRCm38) T311A probably benign Het
Myo5b T C 18: 74,742,180 (GRCm38) F1552L probably benign Het
Myo7b C T 18: 31,972,896 (GRCm38) V1353I probably benign Het
Myo9b T C 8: 71,353,832 (GRCm38) S1512P probably damaging Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Osbpl3 A G 6: 50,353,008 (GRCm38) W63R probably damaging Het
Pcdh17 T C 14: 84,448,201 (GRCm38) S703P probably damaging Het
Pclo T C 5: 14,765,223 (GRCm38) I1231T probably damaging Het
Pex16 A C 2: 92,375,687 (GRCm38) probably benign Het
Pfkl T C 10: 77,992,534 (GRCm38) N399S probably benign Het
Pkhd1l1 G A 15: 44,526,784 (GRCm38) R1432K possibly damaging Het
Prdm1 T A 10: 44,456,696 (GRCm38) T106S probably benign Het
Prrc1 A G 18: 57,363,291 (GRCm38) M105V probably benign Het
Psg26 A G 7: 18,483,958 (GRCm38) C12R possibly damaging Het
Rnf43 A T 11: 87,731,437 (GRCm38) S455C probably damaging Het
Ryr2 T C 13: 11,772,556 (GRCm38) K977R probably damaging Het
Sart1 C T 19: 5,381,122 (GRCm38) probably benign Het
Sec14l5 A G 16: 5,180,303 (GRCm38) S509G probably benign Het
Sin3b A T 8: 72,744,508 (GRCm38) E361V probably benign Het
Slc35e3 C T 10: 117,740,890 (GRCm38) E179K possibly damaging Het
Sntb2 T C 8: 107,001,583 (GRCm38) S388P probably damaging Het
Srms A G 2: 181,212,382 (GRCm38) S131P probably benign Het
Sting1 A T 18: 35,739,088 (GRCm38) F120L probably benign Het
Stxbp5 T C 10: 9,866,698 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Taar2 T C 10: 23,941,063 (GRCm38) V167A probably damaging Het
Thsd7a A G 6: 12,321,900 (GRCm38) Y1516H possibly damaging Het
Tlk1 T A 2: 70,714,169 (GRCm38) probably benign Het
Tnfaip3 T C 10: 19,002,747 (GRCm38) K771R probably damaging Het
Treml1 C T 17: 48,360,458 (GRCm38) L124F probably damaging Het
Ttn G T 2: 76,780,797 (GRCm38) Q9137K possibly damaging Het
Unkl T A 17: 25,230,711 (GRCm38) I469N probably damaging Het
Vmn1r173 G T 7: 23,703,083 (GRCm38) V248L possibly damaging Het
Vps35 T C 8: 85,273,575 (GRCm38) Q474R probably damaging Het
Wdr17 T A 8: 54,663,008 (GRCm38) T580S probably benign Het
Xpnpep1 T C 19: 53,010,152 (GRCm38) K222E probably benign Het
Ylpm1 A G 12: 85,049,737 (GRCm38) T1446A probably benign Het
Zfp277 A G 12: 40,364,162 (GRCm38) L228S possibly damaging Het
Zfp941 T A 7: 140,813,275 (GRCm38) K57M probably damaging Het
Zmpste24 A T 4: 121,081,209 (GRCm38) S244R probably benign Het
Other mutations in Cttn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Cttn APN 7 144,457,727 (GRCm38) missense probably damaging 0.99
IGL01432:Cttn APN 7 144,461,306 (GRCm38) missense probably damaging 0.98
IGL02652:Cttn APN 7 144,441,731 (GRCm38) missense probably benign 0.00
PIT4377001:Cttn UTSW 7 144,440,096 (GRCm38) missense possibly damaging 0.71
R0346:Cttn UTSW 7 144,452,539 (GRCm38) splice site probably benign
R1220:Cttn UTSW 7 144,463,962 (GRCm38) missense probably benign
R3807:Cttn UTSW 7 144,445,851 (GRCm38) missense probably damaging 1.00
R4080:Cttn UTSW 7 144,457,724 (GRCm38) missense probably damaging 1.00
R4578:Cttn UTSW 7 144,454,716 (GRCm38) missense probably damaging 1.00
R5806:Cttn UTSW 7 144,461,268 (GRCm38) missense probably damaging 0.99
R6835:Cttn UTSW 7 144,456,497 (GRCm38) critical splice acceptor site probably null
R6985:Cttn UTSW 7 144,452,587 (GRCm38) nonsense probably null
R7883:Cttn UTSW 7 144,445,818 (GRCm38) missense probably benign 0.00
R8143:Cttn UTSW 7 144,461,262 (GRCm38) nonsense probably null
R9319:Cttn UTSW 7 144,463,363 (GRCm38) missense probably damaging 0.99
R9663:Cttn UTSW 7 144,457,724 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09