Incidental Mutation 'R1796:Ctnnd1'
ID 202216
Institutional Source Beutler Lab
Gene Symbol Ctnnd1
Ensembl Gene ENSMUSG00000034101
Gene Name catenin delta 1
Synonyms Ctnnd, Catns, p120-catenin, catenin (cadherin associated protein), delta 1, P120
MMRRC Submission 039826-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1796 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 84430415-84481109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84445553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 495 (H495N)
Ref Sequence ENSEMBL: ENSMUSP00000141166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036811] [ENSMUST00000066177] [ENSMUST00000067232] [ENSMUST00000099941] [ENSMUST00000111670] [ENSMUST00000111675] [ENSMUST00000111676] [ENSMUST00000111694] [ENSMUST00000111685] [ENSMUST00000111690] [ENSMUST00000111686] [ENSMUST00000111687] [ENSMUST00000111688] [ENSMUST00000111677] [ENSMUST00000111678] [ENSMUST00000111691] [ENSMUST00000111684] [ENSMUST00000111689] [ENSMUST00000111695] [ENSMUST00000111692] [ENSMUST00000111693] [ENSMUST00000111696] [ENSMUST00000111698] [ENSMUST00000111697] [ENSMUST00000189772]
AlphaFold P30999
Predicted Effect probably damaging
Transcript: ENSMUST00000036811
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042543
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066177
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065252
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 1.2e-8 SMART
ARM 440 481 1.3e-10 SMART
ARM 482 539 3e-1 SMART
ARM 541 588 1.8e-2 SMART
Blast:ARM 645 687 1e-19 BLAST
ARM 693 733 5.7e-7 SMART
ARM 783 825 2.1e-1 SMART
low complexity region 851 862 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000067232
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064518
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099941
AA Change: H394N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097524
Gene: ENSMUSG00000034101
AA Change: H394N

DomainStartEndE-ValueType
low complexity region 25 52 N/A INTRINSIC
ARM 296 336 2.53e-6 SMART
ARM 339 380 2.8e-8 SMART
ARM 381 438 6.3e1 SMART
ARM 440 487 3.74e0 SMART
Blast:ARM 550 592 8e-20 BLAST
ARM 598 638 1.23e-4 SMART
ARM 688 730 4.41e1 SMART
low complexity region 756 767 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111670
AA Change: H394N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107299
Gene: ENSMUSG00000034101
AA Change: H394N

DomainStartEndE-ValueType
low complexity region 25 52 N/A INTRINSIC
ARM 296 336 2.53e-6 SMART
ARM 339 380 2.8e-8 SMART
ARM 381 438 6.3e1 SMART
ARM 440 487 3.74e0 SMART
Blast:ARM 544 586 9e-20 BLAST
ARM 592 632 1.23e-4 SMART
ARM 682 724 4.41e1 SMART
low complexity region 750 761 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111675
AA Change: H172N

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107304
Gene: ENSMUSG00000034101
AA Change: H172N

DomainStartEndE-ValueType
ARM 74 114 2.53e-6 SMART
ARM 117 158 2.8e-8 SMART
ARM 159 216 6.3e1 SMART
ARM 218 265 3.74e0 SMART
Blast:ARM 322 364 8e-20 BLAST
ARM 370 410 1.23e-4 SMART
ARM 460 502 4.41e1 SMART
low complexity region 528 539 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111676
AA Change: H394N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107305
Gene: ENSMUSG00000034101
AA Change: H394N

DomainStartEndE-ValueType
low complexity region 25 52 N/A INTRINSIC
ARM 296 336 2.53e-6 SMART
ARM 339 380 2.8e-8 SMART
ARM 381 438 6.3e1 SMART
ARM 440 487 3.74e0 SMART
Blast:ARM 544 586 1e-19 BLAST
ARM 592 632 1.23e-4 SMART
ARM 682 724 4.41e1 SMART
low complexity region 750 761 N/A INTRINSIC
low complexity region 836 848 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111694
AA Change: H495N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107323
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111685
AA Change: H441N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107314
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 597 639 6e-20 BLAST
ARM 645 685 1.23e-4 SMART
ARM 735 777 4.41e1 SMART
low complexity region 803 814 N/A INTRINSIC
low complexity region 868 880 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111690
AA Change: H441N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107319
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 591 633 7e-20 BLAST
ARM 639 679 1.23e-4 SMART
ARM 729 771 4.41e1 SMART
low complexity region 797 808 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111686
AA Change: H441N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107315
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 591 633 7e-20 BLAST
ARM 639 679 1.23e-4 SMART
ARM 729 771 4.41e1 SMART
low complexity region 797 808 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111687
AA Change: H441N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107316
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 591 633 8e-20 BLAST
ARM 639 679 1.23e-4 SMART
ARM 729 771 4.41e1 SMART
low complexity region 797 808 N/A INTRINSIC
low complexity region 883 895 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111688
AA Change: H441N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107317
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 591 633 7e-20 BLAST
ARM 639 679 1.23e-4 SMART
ARM 729 771 4.41e1 SMART
low complexity region 797 808 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111677
AA Change: H394N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107306
Gene: ENSMUSG00000034101
AA Change: H394N

DomainStartEndE-ValueType
low complexity region 25 52 N/A INTRINSIC
ARM 296 336 2.53e-6 SMART
ARM 339 380 2.8e-8 SMART
ARM 381 438 6.3e1 SMART
ARM 440 487 3.74e0 SMART
ARM 592 632 1.23e-4 SMART
ARM 682 724 4.41e1 SMART
low complexity region 750 761 N/A INTRINSIC
low complexity region 815 827 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111678
AA Change: H394N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107307
Gene: ENSMUSG00000034101
AA Change: H394N

DomainStartEndE-ValueType
low complexity region 25 52 N/A INTRINSIC
ARM 296 336 2.53e-6 SMART
ARM 339 380 2.8e-8 SMART
ARM 381 438 6.3e1 SMART
ARM 440 487 3.74e0 SMART
Blast:ARM 550 592 9e-20 BLAST
ARM 598 638 1.23e-4 SMART
ARM 688 730 4.41e1 SMART
low complexity region 756 767 N/A INTRINSIC
low complexity region 842 854 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111691
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107320
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111684
AA Change: H441N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107313
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 597 639 6e-20 BLAST
ARM 645 685 1.23e-4 SMART
ARM 735 777 4.41e1 SMART
low complexity region 803 814 N/A INTRINSIC
low complexity region 889 901 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111689
AA Change: H441N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107318
Gene: ENSMUSG00000034101
AA Change: H441N

DomainStartEndE-ValueType
low complexity region 72 99 N/A INTRINSIC
ARM 343 383 2.53e-6 SMART
ARM 386 427 2.8e-8 SMART
ARM 428 485 6.3e1 SMART
ARM 487 534 3.74e0 SMART
Blast:ARM 597 639 6e-20 BLAST
ARM 645 685 1.23e-4 SMART
ARM 735 777 4.41e1 SMART
low complexity region 803 814 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111695
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107324
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 645 687 1e-19 BLAST
ARM 693 733 1.23e-4 SMART
ARM 783 825 4.41e1 SMART
low complexity region 851 862 N/A INTRINSIC
low complexity region 937 949 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111692
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107321
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 645 687 1e-19 BLAST
ARM 693 733 1.23e-4 SMART
ARM 783 825 4.41e1 SMART
low complexity region 851 862 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111693
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107322
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 645 687 1e-19 BLAST
ARM 693 733 1.23e-4 SMART
ARM 783 825 4.41e1 SMART
low complexity region 851 862 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111696
AA Change: H495N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107325
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 645 687 1e-19 BLAST
ARM 693 733 1.23e-4 SMART
ARM 783 825 4.41e1 SMART
low complexity region 851 862 N/A INTRINSIC
low complexity region 916 928 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111698
AA Change: H431N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107327
Gene: ENSMUSG00000034101
AA Change: H431N

DomainStartEndE-ValueType
low complexity region 62 89 N/A INTRINSIC
ARM 333 373 2.53e-6 SMART
ARM 376 417 2.8e-8 SMART
ARM 418 475 6.3e1 SMART
ARM 477 524 3.74e0 SMART
Blast:ARM 581 623 8e-20 BLAST
ARM 629 669 1.23e-4 SMART
ARM 719 761 4.41e1 SMART
low complexity region 787 798 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111697
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107326
Gene: ENSMUSG00000034101
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189772
AA Change: H495N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
AA Change: H495N

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131926
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,662,156 (GRCm39) S30F probably benign Het
Abtb1 T C 6: 88,813,601 (GRCm39) D379G possibly damaging Het
Adgre1 A G 17: 57,748,350 (GRCm39) I517V probably benign Het
Ajm1 C T 2: 25,468,000 (GRCm39) G637D probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt4 G A 2: 151,780,909 (GRCm39) V386M probably damaging Het
Asic1 A G 15: 99,594,535 (GRCm39) H360R probably null Het
Asxl1 G A 2: 153,243,526 (GRCm39) A1359T probably benign Het
Atp8a2 C T 14: 60,258,207 (GRCm39) probably null Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
C1qtnf2 T A 11: 43,382,114 (GRCm39) F279I probably damaging Het
Car8 A T 4: 8,221,671 (GRCm39) L100* probably null Het
Cd52 T C 4: 133,822,295 (GRCm39) M1V probably null Het
Celf5 T C 10: 81,303,053 (GRCm39) I163V possibly damaging Het
Cep250 A T 2: 155,834,107 (GRCm39) T2010S possibly damaging Het
Cfap65 C T 1: 74,958,107 (GRCm39) V934M probably damaging Het
Colec11 A T 12: 28,644,858 (GRCm39) I212N probably damaging Het
Cpa3 C T 3: 20,277,391 (GRCm39) probably null Het
Cyb5a T C 18: 84,869,686 (GRCm39) V28A probably benign Het
Ddo A T 10: 40,523,625 (GRCm39) Q205L probably benign Het
Dnah1 T A 14: 30,983,050 (GRCm39) N4195I probably benign Het
E2f1 A T 2: 154,402,849 (GRCm39) V306E probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Eef1d A C 15: 75,773,024 (GRCm39) F25C probably damaging Het
Ehd3 A T 17: 74,137,354 (GRCm39) I508F probably damaging Het
Eml6 T A 11: 29,831,975 (GRCm39) I232F probably benign Het
Enc1 T A 13: 97,382,991 (GRCm39) D500E probably benign Het
Enc1 C A 13: 97,382,993 (GRCm39) T501K possibly damaging Het
Fam83f C T 15: 80,574,283 (GRCm39) R213W possibly damaging Het
Fbxo31 A T 8: 122,287,177 (GRCm39) L158* probably null Het
Fcgbpl1 C T 7: 27,854,797 (GRCm39) P1808S probably damaging Het
Foxi3 C A 6: 70,937,794 (GRCm39) T342N possibly damaging Het
Gpr179 T A 11: 97,227,382 (GRCm39) D1591V possibly damaging Het
Gpsm2 A G 3: 108,609,166 (GRCm39) V151A probably damaging Het
Grk2 T G 19: 4,337,968 (GRCm39) I513L probably benign Het
H2-Ab1 A G 17: 34,486,346 (GRCm39) E135G probably damaging Het
Herc1 A T 9: 66,296,138 (GRCm39) K578* probably null Het
Hycc1 T G 5: 24,191,149 (GRCm39) T173P probably damaging Het
Itpr2 T C 6: 146,198,171 (GRCm39) N1533S probably benign Het
Kif3c A G 12: 3,417,299 (GRCm39) N440S probably benign Het
Klhdc2 T C 12: 69,347,071 (GRCm39) probably null Het
Kmo G T 1: 175,465,461 (GRCm39) V72L probably benign Het
Krt71 A G 15: 101,651,315 (GRCm39) I56T possibly damaging Het
Krt72 T C 15: 101,689,987 (GRCm39) probably null Het
Krt78 T A 15: 101,859,300 (GRCm39) Q299L probably damaging Het
Loxhd1 C T 18: 77,493,603 (GRCm39) R1521C probably damaging Het
Loxhd1 G A 18: 77,513,335 (GRCm39) E1774K possibly damaging Het
Ly6g6f T C 17: 35,302,478 (GRCm39) S20G probably benign Het
Mecr T A 4: 131,592,382 (GRCm39) M282K probably damaging Het
Mfsd14a G T 3: 116,428,596 (GRCm39) A353D probably damaging Het
Mroh9 A T 1: 162,873,279 (GRCm39) N564K probably damaging Het
Mrs2 T A 13: 25,181,111 (GRCm39) T237S possibly damaging Het
Mycbpap A G 11: 94,398,377 (GRCm39) L534S probably damaging Het
Myh1 T C 11: 67,115,183 (GRCm39) I1906T probably benign Het
Myh4 T A 11: 67,151,150 (GRCm39) V1935D probably benign Het
Myo18a T C 11: 77,720,170 (GRCm39) I684T possibly damaging Het
Myo7b C T 18: 32,119,728 (GRCm39) R788H possibly damaging Het
Nbea A T 3: 55,551,129 (GRCm39) D2678E possibly damaging Het
Ndufs3 A C 2: 90,729,050 (GRCm39) Y145* probably null Het
Nrros A G 16: 31,962,329 (GRCm39) F563L probably damaging Het
Ntn4 T C 10: 93,581,633 (GRCm39) V602A probably damaging Het
Obscn C A 11: 58,920,163 (GRCm39) R6736L possibly damaging Het
Odr4 T C 1: 150,251,305 (GRCm39) N283S probably benign Het
Or13c7d T A 4: 43,770,495 (GRCm39) D172V possibly damaging Het
Or2ag16 T C 7: 106,351,756 (GRCm39) I280V probably benign Het
Or7g22 C A 9: 19,049,213 (GRCm39) T308K probably benign Het
Or8d1 T A 9: 38,766,820 (GRCm39) V154D probably benign Het
Or8g54 C T 9: 39,707,301 (GRCm39) P210L possibly damaging Het
Or8g55 A G 9: 39,785,267 (GRCm39) E232G probably benign Het
Pik3cd A G 4: 149,738,576 (GRCm39) F751L possibly damaging Het
Plekhh2 A G 17: 84,906,561 (GRCm39) probably null Het
Postn A G 3: 54,281,177 (GRCm39) H434R probably damaging Het
Prss39 A G 1: 34,539,114 (GRCm39) D118G possibly damaging Het
Ralyl G T 3: 14,208,493 (GRCm39) G211V possibly damaging Het
Rbak T A 5: 143,159,202 (GRCm39) E617V probably damaging Het
Rbms3 A T 9: 116,548,401 (GRCm39) W80R probably damaging Het
Retnlg A T 16: 48,694,610 (GRCm39) Y86F probably benign Het
Rtel1 T A 2: 180,993,896 (GRCm39) S643T probably benign Het
Semp2l2a A T 8: 13,886,816 (GRCm39) L425* probably null Het
Serpina11 A T 12: 103,950,954 (GRCm39) F256I probably damaging Het
Setd2 A T 9: 110,446,884 (GRCm39) probably null Het
Setd2 A T 9: 110,379,413 (GRCm39) Y1076F probably benign Het
Sgsm1 T C 5: 113,421,483 (GRCm39) T248A possibly damaging Het
Slc6a21 T C 7: 44,930,179 (GRCm39) Y193H probably damaging Het
Slfn9 T C 11: 82,872,781 (GRCm39) K652E probably benign Het
Stt3b A T 9: 115,077,675 (GRCm39) Y692* probably null Het
Sval3 A G 6: 41,945,096 (GRCm39) Q8R probably benign Het
Synm T A 7: 67,383,748 (GRCm39) I1305F possibly damaging Het
Tdrd1 T C 19: 56,826,215 (GRCm39) F169L probably damaging Het
Tecta T A 9: 42,295,493 (GRCm39) D334V probably damaging Het
Tle2 G A 10: 81,425,331 (GRCm39) probably null Het
Tmem243 A G 5: 9,166,489 (GRCm39) I30V probably benign Het
Treml2 T C 17: 48,616,530 (GRCm39) *330R probably null Het
Trpm6 A G 19: 18,804,931 (GRCm39) D961G possibly damaging Het
Ubr4 T C 4: 139,155,907 (GRCm39) V2244A probably benign Het
Unc79 G T 12: 103,109,005 (GRCm39) V2148F probably damaging Het
Ush2a A C 1: 188,643,024 (GRCm39) T4129P probably benign Het
Vgll2 G A 10: 51,901,324 (GRCm39) V85I probably damaging Het
Vmn1r16 T C 6: 57,300,256 (GRCm39) Y122C probably benign Het
Vmn1r22 A T 6: 57,877,134 (GRCm39) I91N probably damaging Het
Vmn2r70 A T 7: 85,213,011 (GRCm39) Y465* probably null Het
Wdr64 A T 1: 175,544,897 (GRCm39) E110V probably damaging Het
Wfdc6a A T 2: 164,422,231 (GRCm39) C123S probably damaging Het
Xrcc1 A G 7: 24,247,252 (GRCm39) Y30C probably damaging Het
Zdhhc7 T C 8: 120,812,157 (GRCm39) K155R probably benign Het
Zfp560 A G 9: 20,263,226 (GRCm39) F50S possibly damaging Het
Zfp616 C T 11: 73,976,671 (GRCm39) T980I probably damaging Het
Zfp808 C T 13: 62,319,670 (GRCm39) P300S probably damaging Het
Zfp979 G A 4: 147,697,740 (GRCm39) T323I probably damaging Het
Other mutations in Ctnnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Ctnnd1 APN 2 84,439,969 (GRCm39) missense probably damaging 0.99
IGL00846:Ctnnd1 APN 2 84,452,354 (GRCm39) critical splice donor site probably null
IGL00861:Ctnnd1 APN 2 84,434,096 (GRCm39) missense probably damaging 0.97
IGL01394:Ctnnd1 APN 2 84,435,600 (GRCm39) splice site probably benign
IGL02035:Ctnnd1 APN 2 84,450,425 (GRCm39) missense probably damaging 1.00
IGL02536:Ctnnd1 APN 2 84,435,540 (GRCm39) missense probably benign 0.00
IGL02859:Ctnnd1 APN 2 84,450,253 (GRCm39) splice site probably benign
IGL03270:Ctnnd1 APN 2 84,440,071 (GRCm39) splice site probably null
IGL02802:Ctnnd1 UTSW 2 84,454,806 (GRCm39) start codon destroyed probably null 0.99
R0449:Ctnnd1 UTSW 2 84,433,606 (GRCm39) missense possibly damaging 0.53
R0487:Ctnnd1 UTSW 2 84,439,411 (GRCm39) missense probably damaging 1.00
R0652:Ctnnd1 UTSW 2 84,433,240 (GRCm39) missense probably benign 0.40
R1503:Ctnnd1 UTSW 2 84,435,523 (GRCm39) splice site probably null
R1701:Ctnnd1 UTSW 2 84,439,335 (GRCm39) missense probably damaging 1.00
R2001:Ctnnd1 UTSW 2 84,450,704 (GRCm39) missense probably benign 0.00
R2002:Ctnnd1 UTSW 2 84,450,704 (GRCm39) missense probably benign 0.00
R2185:Ctnnd1 UTSW 2 84,442,892 (GRCm39) missense probably damaging 1.00
R2192:Ctnnd1 UTSW 2 84,439,907 (GRCm39) missense probably damaging 1.00
R2203:Ctnnd1 UTSW 2 84,447,024 (GRCm39) missense probably damaging 1.00
R2389:Ctnnd1 UTSW 2 84,454,615 (GRCm39) missense probably null 0.94
R2872:Ctnnd1 UTSW 2 84,451,232 (GRCm39) missense possibly damaging 0.88
R2872:Ctnnd1 UTSW 2 84,451,232 (GRCm39) missense possibly damaging 0.88
R3846:Ctnnd1 UTSW 2 84,447,271 (GRCm39) missense probably benign 0.04
R4019:Ctnnd1 UTSW 2 84,450,302 (GRCm39) missense probably damaging 1.00
R4194:Ctnnd1 UTSW 2 84,434,045 (GRCm39) missense possibly damaging 0.93
R4796:Ctnnd1 UTSW 2 84,450,270 (GRCm39) missense probably damaging 1.00
R4847:Ctnnd1 UTSW 2 84,452,396 (GRCm39) nonsense probably null
R4964:Ctnnd1 UTSW 2 84,452,417 (GRCm39) missense possibly damaging 0.85
R4966:Ctnnd1 UTSW 2 84,452,417 (GRCm39) missense possibly damaging 0.85
R5223:Ctnnd1 UTSW 2 84,447,133 (GRCm39) missense probably damaging 1.00
R5336:Ctnnd1 UTSW 2 84,447,133 (GRCm39) missense probably damaging 1.00
R5428:Ctnnd1 UTSW 2 84,447,133 (GRCm39) missense probably damaging 1.00
R5429:Ctnnd1 UTSW 2 84,447,133 (GRCm39) missense probably damaging 1.00
R5974:Ctnnd1 UTSW 2 84,451,259 (GRCm39) nonsense probably null
R6018:Ctnnd1 UTSW 2 84,480,812 (GRCm39) intron probably benign
R6285:Ctnnd1 UTSW 2 84,444,231 (GRCm39) critical splice donor site probably null
R6562:Ctnnd1 UTSW 2 84,454,652 (GRCm39) missense probably benign
R6661:Ctnnd1 UTSW 2 84,439,986 (GRCm39) missense probably damaging 1.00
R6694:Ctnnd1 UTSW 2 84,454,849 (GRCm39) start gained probably benign
R6769:Ctnnd1 UTSW 2 84,450,454 (GRCm39) missense probably damaging 1.00
R6769:Ctnnd1 UTSW 2 84,450,269 (GRCm39) missense probably damaging 1.00
R6771:Ctnnd1 UTSW 2 84,450,454 (GRCm39) missense probably damaging 1.00
R6771:Ctnnd1 UTSW 2 84,450,269 (GRCm39) missense probably damaging 1.00
R6916:Ctnnd1 UTSW 2 84,439,990 (GRCm39) missense probably benign 0.02
R7025:Ctnnd1 UTSW 2 84,440,950 (GRCm39) missense possibly damaging 0.82
R7208:Ctnnd1 UTSW 2 84,452,390 (GRCm39) missense possibly damaging 0.48
R7466:Ctnnd1 UTSW 2 84,441,129 (GRCm39) missense probably benign 0.30
R7583:Ctnnd1 UTSW 2 84,442,405 (GRCm39) missense probably damaging 0.99
R8087:Ctnnd1 UTSW 2 84,441,220 (GRCm39) missense possibly damaging 0.65
R8458:Ctnnd1 UTSW 2 84,444,287 (GRCm39) missense probably damaging 1.00
R8723:Ctnnd1 UTSW 2 84,450,384 (GRCm39) missense probably benign 0.03
R9087:Ctnnd1 UTSW 2 84,439,922 (GRCm39) missense probably damaging 1.00
R9318:Ctnnd1 UTSW 2 84,438,682 (GRCm39) missense probably benign 0.01
R9651:Ctnnd1 UTSW 2 84,439,899 (GRCm39) missense possibly damaging 0.89
R9736:Ctnnd1 UTSW 2 84,442,430 (GRCm39) missense probably benign 0.19
X0062:Ctnnd1 UTSW 2 84,445,558 (GRCm39) missense probably damaging 1.00
Z1177:Ctnnd1 UTSW 2 84,445,516 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAGGTTTATAGGCCAGCAC -3'
(R):5'- GCCTGACTAATACTACATGGAGTC -3'

Sequencing Primer
(F):5'- GGTTTATAGGCCAGCACTACCAAC -3'
(R):5'- GTCCTAGACTCTGTAATGGGTAAATC -3'
Posted On 2014-06-23