Incidental Mutation 'R7152:Ctnna2'
ID 554193
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 045254-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 76858620-77956682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76957807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 481 (T481S)
Ref Sequence ENSEMBL: ENSMUSP00000124764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000204527]
AlphaFold Q61301
Predicted Effect possibly damaging
Transcript: ENSMUST00000075340
AA Change: T468S

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: T468S

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 2e-104 PFAM
Pfam:Vinculin 331 866 7.7e-222 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159626
AA Change: T468S

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: T468S

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 3.4e-105 PFAM
Pfam:Vinculin 330 914 6.6e-214 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160894
AA Change: T481S

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: T481S

DomainStartEndE-ValueType
Pfam:Vinculin 31 352 2.1e-104 PFAM
Pfam:Vinculin 343 927 4.6e-213 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161846
AA Change: T481S

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: T481S

DomainStartEndE-ValueType
Pfam:Vinculin 31 350 5.3e-105 PFAM
Pfam:Vinculin 344 879 2.1e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204527
AA Change: T116S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: T116S

DomainStartEndE-ValueType
Pfam:Vinculin 2 232 2.9e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdkn2c A T 4: 109,522,235 (GRCm39) F37I probably damaging Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
Ggta1 T A 2: 35,292,711 (GRCm39) M199L probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or51k1 T A 7: 103,661,226 (GRCm39) M228L probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sds A T 5: 120,619,716 (GRCm39) probably null Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Stxbp2 T G 8: 3,682,583 (GRCm39) S57R probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G 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
R2867:Ctnna2 UTSW 6 77,091,905 (GRCm39) splice site probably benign
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
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'- ACAGACCCATCCCATTGCTG -3'
(R):5'- GGTGGCTAATAGCTTCCTTTATCTC -3'

Sequencing Primer
(F):5'- CATCCCATTGCTGAGCTATTTC -3'
(R):5'- ATCTCTCCTGTTTTTAATTGTGCTGG -3'
Posted On 2019-05-15