Incidental Mutation 'R1754:Ctnna2'
ID 193834
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 039786-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 76858620-77956682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77613732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 273 (I273T)
Ref Sequence ENSEMBL: ENSMUSP00000124376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000162273]
AlphaFold Q61301
Predicted Effect possibly damaging
Transcript: ENSMUST00000075340
AA Change: I273T

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: I273T

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: I273T

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: I273T

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 3.4e-105 PFAM
Pfam:Vinculin 330 914 6.6e-214 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160894
AA Change: I286T

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: I286T

DomainStartEndE-ValueType
Pfam:Vinculin 31 352 2.1e-104 PFAM
Pfam:Vinculin 343 927 4.6e-213 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161846
AA Change: I286T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: I286T

DomainStartEndE-ValueType
Pfam:Vinculin 31 350 5.3e-105 PFAM
Pfam:Vinculin 344 879 2.1e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162273
AA Change: I273T

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124689
Gene: ENSMUSG00000063063
AA Change: I273T

DomainStartEndE-ValueType
Pfam:Vinculin 18 356 1.8e-106 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,324,345 (GRCm39) L234M probably benign Het
Abca3 G A 17: 24,596,753 (GRCm39) S402N probably benign Het
Acad12 A T 5: 121,745,544 (GRCm39) V249D probably benign Het
Acp4 T C 7: 43,904,428 (GRCm39) I212V probably benign Het
Actl6a T A 3: 32,772,723 (GRCm39) V233D probably damaging Het
Aire T A 10: 77,866,124 (GRCm39) Q533L probably damaging Het
Aldh3b3 T C 19: 4,018,517 (GRCm39) S411P probably benign Het
Amer2 A G 14: 60,617,206 (GRCm39) K467R probably damaging Het
Apol9b A T 15: 77,619,962 (GRCm39) I253F probably benign Het
Arid1b A G 17: 5,329,476 (GRCm39) probably null Het
Atp6v0a4 T C 6: 38,044,764 (GRCm39) T494A probably benign Het
Atp6v1b2 A G 8: 69,554,613 (GRCm39) D106G probably benign Het
Avpr1b T C 1: 131,527,839 (GRCm39) S121P probably damaging Het
Bcl11a A C 11: 24,114,724 (GRCm39) E689A probably damaging Het
Brpf3 T G 17: 29,040,297 (GRCm39) L906R probably benign Het
Btn1a1 T C 13: 23,644,638 (GRCm39) K287E probably benign Het
Cacna1i A G 15: 80,255,730 (GRCm39) H871R probably damaging Het
Cd14 A T 18: 36,858,567 (GRCm39) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 G T 8: 72,075,823 (GRCm39) W490L probably damaging Het
Dnah7a A T 1: 53,543,344 (GRCm39) D2275E probably benign Het
Dnah7a A C 1: 53,601,059 (GRCm39) probably null Het
Egfem1 T C 3: 29,722,482 (GRCm39) Y404H possibly damaging Het
Esm1 A T 13: 113,353,230 (GRCm39) N171Y probably damaging Het
Exoc1 T G 5: 76,708,169 (GRCm39) probably null Het
Fam243 A G 16: 92,117,919 (GRCm39) V123A probably damaging Het
Fcho1 A G 8: 72,163,890 (GRCm39) I580T probably benign Het
Fgfr1 A G 8: 26,060,226 (GRCm39) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm39) R202G probably damaging Het
Gabra6 A G 11: 42,207,388 (GRCm39) V231A probably damaging Het
Gmeb1 A G 4: 131,959,338 (GRCm39) S239P probably benign Het
Gnpat T A 8: 125,603,745 (GRCm39) Y208N probably damaging Het
Il21 T C 3: 37,279,674 (GRCm39) K114R possibly damaging Het
Inhbc T C 10: 127,206,162 (GRCm39) D35G possibly damaging Het
Inpp4b A T 8: 82,497,440 (GRCm39) T87S probably damaging Het
Kcns2 T C 15: 34,839,663 (GRCm39) I342T possibly damaging Het
Ky A T 9: 102,419,126 (GRCm39) T378S possibly damaging Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lrrc8d T C 5: 105,960,523 (GRCm39) V311A probably benign Het
Mief1 A G 15: 80,133,803 (GRCm39) I287V probably damaging Het
Mrpl47 A G 3: 32,784,233 (GRCm39) V179A probably benign Het
Mtcl1 T C 17: 66,687,178 (GRCm39) K576R probably damaging Het
Myh10 C A 11: 68,703,884 (GRCm39) A1902E probably damaging Het
Nlrp3 A G 11: 59,449,228 (GRCm39) T837A possibly damaging Het
Nr1i3 T C 1: 171,044,963 (GRCm39) Y132H probably damaging Het
Oit3 T C 10: 59,263,762 (GRCm39) probably null Het
Or12j4 A T 7: 140,046,773 (GRCm39) I220F probably damaging Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4c100 A T 2: 88,356,159 (GRCm39) R77S probably damaging Het
Or5b113 T C 19: 13,342,717 (GRCm39) S242P probably damaging Het
Or5h25 T A 16: 58,930,944 (GRCm39) I10F probably benign Het
Or6k14 A G 1: 173,927,599 (GRCm39) T192A probably benign Het
Or7a42 T A 10: 78,791,531 (GRCm39) V164E probably damaging Het
Or9k2 G A 10: 129,999,033 (GRCm39) T54I probably benign Het
Pdlim4 T C 11: 53,946,699 (GRCm39) E196G possibly damaging Het
Pigs A G 11: 78,228,673 (GRCm39) Y293C probably damaging Het
Pkd1l2 A T 8: 117,757,458 (GRCm39) S1527T possibly damaging Het
Pkd2l1 A T 19: 44,144,040 (GRCm39) Y344* probably null Het
Pmp2 T C 3: 10,247,284 (GRCm39) probably null Het
Polr3e T C 7: 120,538,521 (GRCm39) probably null Het
Ppp3ca C G 3: 136,587,209 (GRCm39) I230M probably benign Het
Ppp5c T C 7: 16,739,235 (GRCm39) H463R probably benign Het
Ptger1 A G 8: 84,395,926 (GRCm39) N328D probably benign Het
Rhno1 A T 6: 128,334,822 (GRCm39) I167N probably benign Het
Rictor C A 15: 6,764,849 (GRCm39) P34H probably damaging Het
Rnf10 A C 5: 115,383,924 (GRCm39) S630R probably damaging Het
Rnf168 A G 16: 32,117,942 (GRCm39) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm39) probably null Het
Samd9l G T 6: 3,373,126 (GRCm39) F1378L probably damaging Het
Slc9c1 T A 16: 45,409,872 (GRCm39) M864K probably benign Het
Slitrk5 T C 14: 111,917,951 (GRCm39) F525S probably damaging Het
Sox6 T C 7: 115,076,290 (GRCm39) M784V probably benign Het
Spata31e4 A T 13: 50,855,123 (GRCm39) T254S probably damaging Het
Spint2 C T 7: 28,959,791 (GRCm39) probably null Het
Ssh1 A T 5: 114,093,906 (GRCm39) I276N probably damaging Het
Trank1 T A 9: 111,221,939 (GRCm39) V2892D probably benign Het
Ttn C A 2: 76,581,384 (GRCm39) E21424* probably null Het
Usp17lc T C 7: 103,068,055 (GRCm39) I450T probably benign Het
Vcan A G 13: 89,852,854 (GRCm39) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,693,517 (GRCm39) probably null Het
Vmn2r51 G T 7: 9,833,873 (GRCm39) D388E probably benign Het
Zfp106 A C 2: 120,364,245 (GRCm39) S721A probably damaging Het
Zfp106 G A 2: 120,364,244 (GRCm39) S721L probably damaging Het
Zfp189 T A 4: 49,529,342 (GRCm39) H148Q possibly damaging Het
Zfp352 A T 4: 90,112,046 (GRCm39) Y62F probably benign Het
Zfp839 T C 12: 110,821,891 (GRCm39) V235A probably damaging Het
Zfp871 T C 17: 32,994,308 (GRCm39) Y289C 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
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
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'- AGCTGCTTGCAATGTTCGTCCC -3'
(R):5'- TGGAGCCCTGAAGAAGAATGCCAC -3'

Sequencing Primer
(F):5'- TCTTTCTACCTGAAAGAGATCTGG -3'
(R):5'- GAAGAATGCCACCATGCTG -3'
Posted On 2014-05-23