Incidental Mutation 'R5847:Ctnna2'
ID 453669
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 044065-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 76858620-77956682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76950820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 550 (D550E)
Ref Sequence ENSEMBL: ENSMUSP00000124764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000204527]
AlphaFold Q61301
Predicted Effect probably benign
Transcript: ENSMUST00000075340
AA Change: D537E

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: D537E

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 2e-104 PFAM
Pfam:Vinculin 331 866 7.7e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159626
AA Change: D537E

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: D537E

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: D550E

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: D550E

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: D550E

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: D550E

DomainStartEndE-ValueType
Pfam:Vinculin 31 350 5.3e-105 PFAM
Pfam:Vinculin 344 879 2.1e-222 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204527
AA Change: D185E

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: D185E

DomainStartEndE-ValueType
Pfam:Vinculin 2 232 2.9e-94 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging 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
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'- TCTCCTGGTATCCAAATCCAAACTC -3'
(R):5'- TTCTAAGGTGAGGACTCATGGG -3'

Sequencing Primer
(F):5'- GAAGATAATGAAACTGCTGTGTTCAG -3'
(R):5'- CTCATGGGAGTTGTTGAAATGG -3'
Posted On 2017-02-10