Incidental Mutation 'R5607:Ctnna1'
ID 439364
Institutional Source Beutler Lab
Gene Symbol Ctnna1
Ensembl Gene ENSMUSG00000037815
Gene Name catenin alpha 1
Synonyms Catna1, alpha E catenin, alpha(E)-catenin, catenin (cadherin associated protein), alpha 1, 2010010M04Rik
MMRRC Submission 043271-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5607 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35251955-35387829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35382795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 647 (D647G)
Ref Sequence ENSEMBL: ENSMUSP00000049007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042345]
AlphaFold P26231
PDB Structure CRYSTAL STRUCTURE OF THE ALPHA-CATENIN DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A CHIMERA OF BETA-CATENIN AND ALPHA-CATENIN [X-RAY DIFFRACTION]
alpha-catenin fragment, residues 385-651 [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Crystal structure of full-length mouse alphaE-catenin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000042345
AA Change: D647G

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: D647G

DomainStartEndE-ValueType
Pfam:Vinculin 19 339 2.6e-99 PFAM
Pfam:Vinculin 333 867 3.3e-218 PFAM
Meta Mutation Damage Score 0.0870 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Ajap1 T A 4: 153,516,661 (GRCm39) T227S possibly damaging Het
Ankmy1 A G 1: 92,804,740 (GRCm39) F851S probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Cacna1e T A 1: 154,347,086 (GRCm39) N1027I probably benign Het
Cacng4 A T 11: 107,625,610 (GRCm39) V327E probably damaging Het
Casp1 T C 9: 5,303,143 (GRCm39) V199A probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Exoc6 T A 19: 37,566,977 (GRCm39) V258D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G A 1: 174,437,377 (GRCm39) C1116Y probably damaging Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Mcm6 T C 1: 128,283,326 (GRCm39) T60A probably damaging Het
Mex3c T A 18: 73,723,014 (GRCm39) M369K possibly damaging Het
Mmp14 T C 14: 54,676,869 (GRCm39) Y428H probably damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Myo9a T C 9: 59,771,227 (GRCm39) V933A probably damaging Het
Nepn A T 10: 52,277,233 (GRCm39) D323V probably benign Het
Nrf1 C T 6: 30,126,245 (GRCm39) A150V probably damaging Het
Nxpe5 A G 5: 138,238,033 (GRCm39) T199A probably benign Het
Obscn T G 11: 59,013,674 (GRCm39) K1150Q probably benign Het
Or12j5 A C 7: 140,084,318 (GRCm39) V18G probably benign Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or7a38 A G 10: 78,752,933 (GRCm39) I86M possibly damaging Het
Or7e170 T A 9: 19,795,272 (GRCm39) M110L probably benign Het
Otop1 G A 5: 38,451,848 (GRCm39) G184S possibly damaging Het
Pkp2 G T 16: 16,078,239 (GRCm39) D494Y probably damaging Het
Pop5 G A 5: 115,378,260 (GRCm39) R68Q probably damaging Het
Ppp1r13b T C 12: 111,800,223 (GRCm39) D518G probably benign Het
Preb G T 5: 31,117,307 (GRCm39) probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rag1 G A 2: 101,474,137 (GRCm39) T335I probably damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Sf3a3 A T 4: 124,608,746 (GRCm39) D20V probably damaging Het
Slco1b2 A G 6: 141,631,312 (GRCm39) N649D probably benign Het
Smarcal1 A G 1: 72,625,372 (GRCm39) D173G probably benign Het
Smg7 A G 1: 152,718,985 (GRCm39) L914P probably damaging Het
Tbc1d32 A T 10: 56,005,246 (GRCm39) S796T possibly damaging Het
Tex14 A G 11: 87,413,404 (GRCm39) T1052A probably benign Het
Tspan1 A G 4: 116,021,277 (GRCm39) V109A possibly damaging Het
Ttbk2 A G 2: 120,637,305 (GRCm39) V51A possibly damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Ubr2 G T 17: 47,245,126 (GRCm39) C1633* probably null Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Vmn2r25 T C 6: 123,805,318 (GRCm39) E513G possibly damaging Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S probably damaging Het
Other mutations in Ctnna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Ctnna1 APN 18 35,356,501 (GRCm39) missense probably damaging 0.97
IGL03068:Ctnna1 APN 18 35,382,785 (GRCm39) missense possibly damaging 0.66
IGL03286:Ctnna1 APN 18 35,308,206 (GRCm39) missense probably benign 0.37
PIT4458001:Ctnna1 UTSW 18 35,308,179 (GRCm39) missense possibly damaging 0.65
R0282:Ctnna1 UTSW 18 35,377,175 (GRCm39) missense possibly damaging 0.79
R1971:Ctnna1 UTSW 18 35,287,580 (GRCm39) missense probably benign
R2117:Ctnna1 UTSW 18 35,285,678 (GRCm39) missense possibly damaging 0.76
R2424:Ctnna1 UTSW 18 35,386,760 (GRCm39) missense probably benign 0.00
R4602:Ctnna1 UTSW 18 35,312,880 (GRCm39) missense possibly damaging 0.92
R4812:Ctnna1 UTSW 18 35,372,530 (GRCm39) missense probably damaging 1.00
R5120:Ctnna1 UTSW 18 35,315,607 (GRCm39) critical splice donor site probably null
R5469:Ctnna1 UTSW 18 35,372,573 (GRCm39) missense probably benign 0.00
R5629:Ctnna1 UTSW 18 35,382,802 (GRCm39) missense probably benign
R5824:Ctnna1 UTSW 18 35,312,939 (GRCm39) missense probably benign
R5971:Ctnna1 UTSW 18 35,287,567 (GRCm39) missense probably benign
R6191:Ctnna1 UTSW 18 35,307,408 (GRCm39) missense probably damaging 1.00
R7065:Ctnna1 UTSW 18 35,285,669 (GRCm39) missense probably benign
R7519:Ctnna1 UTSW 18 35,307,424 (GRCm39) missense probably benign 0.02
R7624:Ctnna1 UTSW 18 35,377,897 (GRCm39) missense probably benign 0.00
R7636:Ctnna1 UTSW 18 35,356,526 (GRCm39) missense possibly damaging 0.92
R8086:Ctnna1 UTSW 18 35,285,713 (GRCm39) missense possibly damaging 0.55
R8354:Ctnna1 UTSW 18 35,385,776 (GRCm39) missense possibly damaging 0.94
R8765:Ctnna1 UTSW 18 35,384,293 (GRCm39) missense probably damaging 0.97
R8889:Ctnna1 UTSW 18 35,372,586 (GRCm39) missense possibly damaging 0.46
R8892:Ctnna1 UTSW 18 35,372,586 (GRCm39) missense possibly damaging 0.46
R9246:Ctnna1 UTSW 18 35,356,562 (GRCm39) missense probably benign 0.00
U15987:Ctnna1 UTSW 18 35,287,567 (GRCm39) missense probably benign
X0021:Ctnna1 UTSW 18 35,315,598 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGAGCTTTCTTTACAGAGAGGGTG -3'
(R):5'- ACTAGCAGCTGCCATGACTG -3'

Sequencing Primer
(F):5'- TGAGGAGGCTGACACACTGC -3'
(R):5'- GACTGAGGATTTTAGCTGTACTCCAC -3'
Posted On 2016-10-26