Incidental Mutation 'IGL00155:Ctnna2'
ID1571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnna2
Ensembl Gene ENSMUSG00000063063
Gene Namecatenin (cadherin associated protein), alpha 2
Synonymschp, Catna, alpha N-catenin, alpha(N)-catenin, Catna2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.933) question?
Stock #IGL00155
Quality Score
Status
Chromosome6
Chromosomal Location76881637-77979699 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76980761 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 137 (W137R)
Ref Sequence ENSEMBL: ENSMUSP00000144890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075340] [ENSMUST00000159626] [ENSMUST00000160894] [ENSMUST00000161846] [ENSMUST00000204527]
Predicted Effect probably damaging
Transcript: ENSMUST00000075340
AA Change: W489R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
AA Change: W489R

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 2e-104 PFAM
Pfam:Vinculin 331 866 7.7e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159626
AA Change: W489R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
AA Change: W489R

DomainStartEndE-ValueType
Pfam:Vinculin 18 337 3.4e-105 PFAM
Pfam:Vinculin 330 914 6.6e-214 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160894
AA Change: W502R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
AA Change: W502R

DomainStartEndE-ValueType
Pfam:Vinculin 31 352 2.1e-104 PFAM
Pfam:Vinculin 343 927 4.6e-213 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161846
AA Change: W502R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
AA Change: W502R

DomainStartEndE-ValueType
Pfam:Vinculin 31 350 5.3e-105 PFAM
Pfam:Vinculin 344 879 2.1e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204527
AA Change: W137R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144890
Gene: ENSMUSG00000063063
AA Change: W137R

DomainStartEndE-ValueType
Pfam:Vinculin 2 232 2.9e-94 PFAM
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A G 5: 11,921,410 S110G possibly damaging Het
Aacs T C 5: 125,513,171 F498S probably damaging Het
Arhgap11a A G 2: 113,834,256 S561P probably benign Het
Best3 T C 10: 116,988,727 Y33H probably damaging Het
Cd209b T A 8: 3,919,945 probably benign Het
Cep152 A G 2: 125,563,888 S1575P probably benign Het
Crabp2 A G 3: 87,952,199 Y52C probably damaging Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Cxcl9 T A 5: 92,323,869 H104L possibly damaging Het
Ddr2 A G 1: 169,984,427 I742T possibly damaging Het
Frem1 A G 4: 82,959,389 V223A possibly damaging Het
Fzd10 T A 5: 128,601,528 I104N probably damaging Het
Greb1 A G 12: 16,711,961 S473P probably damaging Het
Gtf2i T C 5: 134,242,748 Y873C probably damaging Het
Igsf6 T A 7: 121,070,653 K89* probably null Het
Ints3 A G 3: 90,406,329 F331L probably damaging Het
Kcnh3 A T 15: 99,242,473 H1080L possibly damaging Het
Mettl15 A T 2: 109,093,176 Y300* probably null Het
Mms19 A G 19: 41,948,233 F654L probably benign Het
Myc A G 15: 61,989,820 H425R probably benign Het
Ntn1 G T 11: 68,226,619 probably benign Het
Ormdl2 C A 10: 128,820,075 G69W probably damaging Het
Pdpr T C 8: 111,102,072 V69A possibly damaging Het
Rbbp6 T C 7: 122,988,685 I254T probably damaging Het
Sema6d A G 2: 124,659,865 R543G possibly damaging Het
Slc18a1 C T 8: 69,051,346 A314T probably damaging Het
Slc22a26 A G 19: 7,782,836 L514P probably damaging Het
Slc22a28 A C 19: 8,130,203 S167A possibly damaging Het
Tchh A G 3: 93,445,299 E682G unknown Het
Thbs2 A T 17: 14,668,835 M1134K probably damaging Het
Tmem26 A G 10: 68,775,354 S218G probably damaging Het
Tmprss11c A T 5: 86,239,395 S208R probably benign Het
Tnfrsf8 T C 4: 145,292,591 probably null Het
Ush2a T C 1: 188,864,678 S3872P probably benign Het
Vmn1r69 T C 7: 10,579,952 N205S probably benign Het
Vmn2r54 T A 7: 12,631,913 probably benign Het
Wwtr1 A T 3: 57,463,521 M328K possibly damaging Het
Zfp64 G A 2: 168,926,681 S337L probably benign Het
Other mutations in Ctnna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Ctnna2 APN 6 76902281 intron probably benign
IGL01290:Ctnna2 APN 6 76882560 missense possibly damaging 0.89
IGL01719:Ctnna2 APN 6 77636975 nonsense probably null
IGL01725:Ctnna2 APN 6 77641365 missense possibly damaging 0.89
IGL02381:Ctnna2 APN 6 76954783 missense probably benign 0.27
IGL02561:Ctnna2 APN 6 77845580 missense probably benign 0.34
IGL02653:Ctnna2 APN 6 76980777 missense probably benign 0.00
IGL02658:Ctnna2 APN 6 76980824 missense probably benign 0.00
IGL02721:Ctnna2 APN 6 76981869 missense probably damaging 0.99
IGL03075:Ctnna2 APN 6 76954730 missense probably benign 0.14
IGL03291:Ctnna2 APN 6 76973712 missense probably damaging 1.00
R0379:Ctnna2 UTSW 6 77641440 missense probably benign 0.01
R0423:Ctnna2 UTSW 6 77653069 missense probably damaging 1.00
R0539:Ctnna2 UTSW 6 76973899 missense probably damaging 1.00
R0540:Ctnna2 UTSW 6 76902430 missense probably benign 0.00
R0545:Ctnna2 UTSW 6 77605182 missense probably damaging 1.00
R0559:Ctnna2 UTSW 6 76915850 missense probably damaging 1.00
R0582:Ctnna2 UTSW 6 77758417 missense probably benign 0.07
R0607:Ctnna2 UTSW 6 76902430 missense probably benign 0.00
R1318:Ctnna2 UTSW 6 76882790 missense probably damaging 1.00
R1754:Ctnna2 UTSW 6 77636749 missense possibly damaging 0.61
R1838:Ctnna2 UTSW 6 77845542 missense probably damaging 0.99
R1924:Ctnna2 UTSW 6 76954847 missense possibly damaging 0.75
R1969:Ctnna2 UTSW 6 77758500 missense probably damaging 0.99
R2011:Ctnna2 UTSW 6 76973791 missense possibly damaging 0.47
R2867:Ctnna2 UTSW 6 77114922 splice site probably benign
R3103:Ctnna2 UTSW 6 77653144 missense possibly damaging 0.66
R3772:Ctnna2 UTSW 6 76973769 missense probably damaging 0.99
R3809:Ctnna2 UTSW 6 76954757 missense probably damaging 0.99
R4023:Ctnna2 UTSW 6 77636844 missense possibly damaging 0.90
R4024:Ctnna2 UTSW 6 77636844 missense possibly damaging 0.90
R4025:Ctnna2 UTSW 6 77636844 missense possibly damaging 0.90
R4026:Ctnna2 UTSW 6 77636844 missense possibly damaging 0.90
R4288:Ctnna2 UTSW 6 77605221 missense probably damaging 0.96
R4291:Ctnna2 UTSW 6 76882745 missense probably damaging 1.00
R4493:Ctnna2 UTSW 6 76981848 missense probably damaging 0.99
R4561:Ctnna2 UTSW 6 77636713 critical splice donor site probably null
R4824:Ctnna2 UTSW 6 76980781 missense probably damaging 1.00
R4960:Ctnna2 UTSW 6 77653111 missense probably damaging 1.00
R4999:Ctnna2 UTSW 6 76915762 missense possibly damaging 0.86
R5041:Ctnna2 UTSW 6 76915763 missense probably damaging 1.00
R5093:Ctnna2 UTSW 6 77114929 critical splice donor site probably null
R5411:Ctnna2 UTSW 6 77114931 missense probably damaging 1.00
R5847:Ctnna2 UTSW 6 76973837 missense possibly damaging 0.87
R5874:Ctnna2 UTSW 6 76902430 missense probably benign 0.00
R5935:Ctnna2 UTSW 6 77143921 missense probably benign 0.01
R6008:Ctnna2 UTSW 6 76915828 missense probably damaging 1.00
R6115:Ctnna2 UTSW 6 77636839 missense probably benign 0.10
R6369:Ctnna2 UTSW 6 76980695 missense possibly damaging 0.88
R6490:Ctnna2 UTSW 6 77143909 missense probably benign
R7021:Ctnna2 UTSW 6 77636905 missense probably damaging 1.00
R7152:Ctnna2 UTSW 6 76980824 missense possibly damaging 0.48
R7662:Ctnna2 UTSW 6 77636869 missense probably damaging 1.00
R7804:Ctnna2 UTSW 6 77641374 missense probably benign 0.00
R7935:Ctnna2 UTSW 6 76942287 missense probably damaging 1.00
Z1177:Ctnna2 UTSW 6 76973781 missense possibly damaging 0.94
Z1177:Ctnna2 UTSW 6 76980740 missense probably damaging 1.00
Z1177:Ctnna2 UTSW 6 77641417 missense probably benign 0.01
Z1177:Ctnna2 UTSW 6 77758554 missense probably benign 0.12
Posted On2011-07-12