Incidental Mutation 'R2867:Ctnna2'
ID 266391
Institutional Source Beutler Lab
Gene Symbol Ctnna2
Ensembl Gene ENSMUSG00000063063
Gene Name catenin alpha 2
Synonyms Catna, catenin (cadherin associated protein), alpha 2, chp, Catna2, alpha N-catenin, alpha(N)-catenin
MMRRC Submission 040456-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R2867 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 76858620-77956682 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 77091905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000204527]
AlphaFold Q61301
Predicted Effect probably benign
Transcript: ENSMUST00000075340
SMART Domains Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 2e-104 PFAM
Pfam:Vinculin 331 866 7.7e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159626
SMART Domains Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 3.4e-105 PFAM
Pfam:Vinculin 330 914 6.6e-214 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160894
SMART Domains Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063

DomainStartEndE-ValueType
Pfam:Vinculin 31 352 2.1e-104 PFAM
Pfam:Vinculin 343 927 4.6e-213 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161846
SMART Domains Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063

DomainStartEndE-ValueType
Pfam:Vinculin 31 350 5.3e-105 PFAM
Pfam:Vinculin 344 879 2.1e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204527
SMART Domains Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063

DomainStartEndE-ValueType
Pfam:Vinculin 2 232 2.9e-94 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (30/31)
MGI Phenotype PHENOTYPE: Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 T C 1: 177,595,378 (GRCm39) probably null Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Birc2 A C 9: 7,834,478 (GRCm39) M1R probably null Het
Caprin2 G A 6: 148,747,738 (GRCm39) silent Het
Cog4 C A 8: 111,593,291 (GRCm39) probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Cyp7a1 T C 4: 6,272,493 (GRCm39) E240G probably damaging Het
Dnaaf11 A T 15: 66,310,257 (GRCm39) L337* probably null Het
Efhc2 A T X: 17,027,484 (GRCm39) probably benign Homo
Epha6 T C 16: 59,780,659 (GRCm39) probably null Het
Evc T A 5: 37,473,619 (GRCm39) probably benign Het
Fbf1 A G 11: 116,052,274 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Gtf3c4 A G 2: 28,729,916 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Kif20b A G 19: 34,917,528 (GRCm39) E631G probably damaging Het
Lctl T C 9: 64,045,150 (GRCm39) S550P probably benign Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mgst2 A G 3: 51,571,954 (GRCm39) silent Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp1 T C 8: 87,588,033 (GRCm39) N302D probably benign Het
Pcdh7 A T 5: 57,879,236 (GRCm39) K930N probably damaging Het
Pramel16 T A 4: 143,675,456 (GRCm39) I457L probably benign Het
Proca1 A T 11: 78,095,806 (GRCm39) N146I probably damaging Het
RP23-211L5.9 T C 6: 68,872,634 (GRCm39) probably null Het
Ryr2 A T 13: 11,776,235 (GRCm39) W1101R probably damaging Het
Slc35d3 T C 10: 19,725,209 (GRCm39) T216A probably benign Het
Terb1 C T 8: 105,174,485 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,108,945 (GRCm39) D289Y probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Tradd G T 8: 105,986,145 (GRCm39) F182L probably benign Het
Trav17 A T 14: 54,044,383 (GRCm39) Y50F probably benign Het
Usp37 A T 1: 74,489,691 (GRCm39) D808E probably damaging Het
Usp42 G A 5: 143,701,219 (GRCm39) P935S possibly damaging Het
Vmn2r23 A G 6: 123,690,123 (GRCm39) D333G possibly damaging Het
Zfpm2 C T 15: 40,962,785 (GRCm39) A149V probably benign Het
Other mutations in Ctnna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ctnna2 APN 6 76,957,744 (GRCm39) missense probably damaging 1.00
IGL00573:Ctnna2 APN 6 76,879,264 (GRCm39) intron probably benign
IGL01290:Ctnna2 APN 6 76,859,543 (GRCm39) missense possibly damaging 0.89
IGL01719:Ctnna2 APN 6 77,613,958 (GRCm39) nonsense probably null
IGL01725:Ctnna2 APN 6 77,618,348 (GRCm39) missense possibly damaging 0.89
IGL02381:Ctnna2 APN 6 76,931,766 (GRCm39) missense probably benign 0.27
IGL02561:Ctnna2 APN 6 77,822,563 (GRCm39) missense probably benign 0.34
IGL02653:Ctnna2 APN 6 76,957,760 (GRCm39) missense probably benign 0.00
IGL02658:Ctnna2 APN 6 76,957,807 (GRCm39) missense probably benign 0.00
IGL02721:Ctnna2 APN 6 76,958,852 (GRCm39) missense probably damaging 0.99
IGL03075:Ctnna2 APN 6 76,931,713 (GRCm39) missense probably benign 0.14
IGL03291:Ctnna2 APN 6 76,950,695 (GRCm39) missense probably damaging 1.00
R0379:Ctnna2 UTSW 6 77,618,423 (GRCm39) missense probably benign 0.01
R0423:Ctnna2 UTSW 6 77,630,052 (GRCm39) missense probably damaging 1.00
R0539:Ctnna2 UTSW 6 76,950,882 (GRCm39) missense probably damaging 1.00
R0540:Ctnna2 UTSW 6 76,879,413 (GRCm39) missense probably benign 0.00
R0545:Ctnna2 UTSW 6 77,582,165 (GRCm39) missense probably damaging 1.00
R0559:Ctnna2 UTSW 6 76,892,833 (GRCm39) missense probably damaging 1.00
R0582:Ctnna2 UTSW 6 77,735,400 (GRCm39) missense probably benign 0.07
R0607:Ctnna2 UTSW 6 76,879,413 (GRCm39) missense probably benign 0.00
R1318:Ctnna2 UTSW 6 76,859,773 (GRCm39) missense probably damaging 1.00
R1754:Ctnna2 UTSW 6 77,613,732 (GRCm39) missense possibly damaging 0.61
R1838:Ctnna2 UTSW 6 77,822,525 (GRCm39) missense probably damaging 0.99
R1924:Ctnna2 UTSW 6 76,931,830 (GRCm39) missense possibly damaging 0.75
R1969:Ctnna2 UTSW 6 77,735,483 (GRCm39) missense probably damaging 0.99
R2011:Ctnna2 UTSW 6 76,950,774 (GRCm39) missense possibly damaging 0.47
R3103:Ctnna2 UTSW 6 77,630,127 (GRCm39) missense possibly damaging 0.66
R3772:Ctnna2 UTSW 6 76,950,752 (GRCm39) missense probably damaging 0.99
R3809:Ctnna2 UTSW 6 76,931,740 (GRCm39) missense probably damaging 0.99
R4023:Ctnna2 UTSW 6 77,613,827 (GRCm39) missense possibly damaging 0.90
R4024:Ctnna2 UTSW 6 77,613,827 (GRCm39) missense possibly damaging 0.90
R4025:Ctnna2 UTSW 6 77,613,827 (GRCm39) missense possibly damaging 0.90
R4026:Ctnna2 UTSW 6 77,613,827 (GRCm39) missense possibly damaging 0.90
R4288:Ctnna2 UTSW 6 77,582,204 (GRCm39) missense probably damaging 0.96
R4291:Ctnna2 UTSW 6 76,859,728 (GRCm39) missense probably damaging 1.00
R4493:Ctnna2 UTSW 6 76,958,831 (GRCm39) missense probably damaging 0.99
R4561:Ctnna2 UTSW 6 77,613,696 (GRCm39) critical splice donor site probably null
R4824:Ctnna2 UTSW 6 76,957,764 (GRCm39) missense probably damaging 1.00
R4960:Ctnna2 UTSW 6 77,630,094 (GRCm39) missense probably damaging 1.00
R4999:Ctnna2 UTSW 6 76,892,745 (GRCm39) missense possibly damaging 0.86
R5041:Ctnna2 UTSW 6 76,892,746 (GRCm39) missense probably damaging 1.00
R5093:Ctnna2 UTSW 6 77,091,912 (GRCm39) critical splice donor site probably null
R5411:Ctnna2 UTSW 6 77,091,914 (GRCm39) missense probably damaging 1.00
R5847:Ctnna2 UTSW 6 76,950,820 (GRCm39) missense possibly damaging 0.87
R5874:Ctnna2 UTSW 6 76,879,413 (GRCm39) missense probably benign 0.00
R5935:Ctnna2 UTSW 6 77,120,904 (GRCm39) missense probably benign 0.01
R6008:Ctnna2 UTSW 6 76,892,811 (GRCm39) missense probably damaging 1.00
R6115:Ctnna2 UTSW 6 77,613,822 (GRCm39) missense probably benign 0.10
R6369:Ctnna2 UTSW 6 76,957,678 (GRCm39) missense possibly damaging 0.88
R6490:Ctnna2 UTSW 6 77,120,892 (GRCm39) missense probably benign
R7021:Ctnna2 UTSW 6 77,613,888 (GRCm39) missense probably damaging 1.00
R7152:Ctnna2 UTSW 6 76,957,807 (GRCm39) missense possibly damaging 0.48
R7662:Ctnna2 UTSW 6 77,613,852 (GRCm39) missense probably damaging 1.00
R7804:Ctnna2 UTSW 6 77,618,357 (GRCm39) missense probably benign 0.00
R7935:Ctnna2 UTSW 6 76,919,270 (GRCm39) missense probably damaging 1.00
R8479:Ctnna2 UTSW 6 77,735,573 (GRCm39) missense probably damaging 1.00
R8698:Ctnna2 UTSW 6 77,630,100 (GRCm39) missense probably benign 0.00
R8829:Ctnna2 UTSW 6 77,582,205 (GRCm39) nonsense probably null
R9054:Ctnna2 UTSW 6 76,919,249 (GRCm39) missense probably benign 0.38
R9142:Ctnna2 UTSW 6 76,879,423 (GRCm39) intron probably benign
R9173:Ctnna2 UTSW 6 76,896,939 (GRCm39) missense probably damaging 1.00
R9776:Ctnna2 UTSW 6 77,582,172 (GRCm39) missense probably benign 0.02
Z1177:Ctnna2 UTSW 6 77,618,400 (GRCm39) missense probably benign 0.01
Z1177:Ctnna2 UTSW 6 76,957,723 (GRCm39) missense probably damaging 1.00
Z1177:Ctnna2 UTSW 6 76,950,764 (GRCm39) missense possibly damaging 0.94
Z1177:Ctnna2 UTSW 6 77,735,537 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGCCTCTGCCTATTGCTCAG -3'
(R):5'- TTTTAACTGCAGCTTCGGAAAG -3'

Sequencing Primer
(F):5'- TCTGTATGAAGAGTCATGACACACAG -3'
(R):5'- CTTCGGAAAGCTGTGATGGATC -3'
Posted On 2015-02-18