Incidental Mutation 'R2001:Ctnnd1'
ID 225893
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 040011-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2001 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 84430415-84481109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84450704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 172 (N172S)
Ref Sequence ENSEMBL: ENSMUSP00000107323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036811] [ENSMUST00000066177] [ENSMUST00000067232] [ENSMUST00000099941] [ENSMUST00000111670] [ENSMUST00000111675] [ENSMUST00000111676] [ENSMUST00000111694] [ENSMUST00000111691] [ENSMUST00000111692] [ENSMUST00000111693] [ENSMUST00000111684] [ENSMUST00000111689] [ENSMUST00000111695] [ENSMUST00000111687] [ENSMUST00000111677] [ENSMUST00000111688] [ENSMUST00000111678] [ENSMUST00000111685] [ENSMUST00000111686] [ENSMUST00000111690] [ENSMUST00000111698] [ENSMUST00000189772] [ENSMUST00000111696] [ENSMUST00000111697]
AlphaFold P30999
Predicted Effect probably benign
Transcript: ENSMUST00000036811
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042543
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000066177
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065252
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000067232
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064518
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000099941
AA Change: N71S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097524
Gene: ENSMUSG00000034101
AA Change: N71S

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 probably benign
Transcript: ENSMUST00000111670
AA Change: N71S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107299
Gene: ENSMUSG00000034101
AA Change: N71S

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 probably benign
Transcript: ENSMUST00000111675
SMART Domains Protein: ENSMUSP00000107304
Gene: ENSMUSG00000034101

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 probably benign
Transcript: ENSMUST00000111676
AA Change: N71S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107305
Gene: ENSMUSG00000034101
AA Change: N71S

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 benign
Transcript: ENSMUST00000111694
AA Change: N172S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107323
Gene: ENSMUSG00000034101
AA Change: N172S

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 probably benign
Transcript: ENSMUST00000111691
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107320
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000111692
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107321
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000111693
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107322
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000111684
AA Change: N118S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107313
Gene: ENSMUSG00000034101
AA Change: N118S

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 benign
Transcript: ENSMUST00000111689
AA Change: N118S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107318
Gene: ENSMUSG00000034101
AA Change: N118S

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 benign
Transcript: ENSMUST00000111695
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107324
Gene: ENSMUSG00000034101
AA Change: N172S

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 benign
Transcript: ENSMUST00000111687
AA Change: N118S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107316
Gene: ENSMUSG00000034101
AA Change: N118S

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 probably benign
Transcript: ENSMUST00000111677
AA Change: N71S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107306
Gene: ENSMUSG00000034101
AA Change: N71S

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 benign
Transcript: ENSMUST00000111688
AA Change: N118S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107317
Gene: ENSMUSG00000034101
AA Change: N118S

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 benign
Transcript: ENSMUST00000111678
AA Change: N71S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107307
Gene: ENSMUSG00000034101
AA Change: N71S

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 benign
Transcript: ENSMUST00000111685
AA Change: N118S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107314
Gene: ENSMUSG00000034101
AA Change: N118S

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 probably benign
Transcript: ENSMUST00000111686
AA Change: N118S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107315
Gene: ENSMUSG00000034101
AA Change: N118S

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 benign
Transcript: ENSMUST00000111690
AA Change: N118S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107319
Gene: ENSMUSG00000034101
AA Change: N118S

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 benign
Transcript: ENSMUST00000111698
AA Change: N108S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107327
Gene: ENSMUSG00000034101
AA Change: N108S

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 benign
Transcript: ENSMUST00000189772
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
AA Change: N172S

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 benign
Transcript: ENSMUST00000111696
AA Change: N172S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107325
Gene: ENSMUSG00000034101
AA Change: N172S

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 probably benign
Transcript: ENSMUST00000111697
AA Change: N172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107326
Gene: ENSMUSG00000034101
AA Change: N172S

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: ENSMUST00000126092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149317
Meta Mutation Damage Score 0.0586 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,571,800 (GRCm39) S559P probably benign Het
A430005L14Rik T A 4: 154,044,314 (GRCm39) C42S probably damaging Het
Abca13 A T 11: 9,223,967 (GRCm39) T449S probably benign Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamts13 C T 2: 26,864,002 (GRCm39) P60L probably benign Het
Adamts20 T C 15: 94,245,599 (GRCm39) T568A possibly damaging Het
Ago1 T C 4: 126,348,187 (GRCm39) I44V probably null Het
Agtpbp1 TGAAGATGCATCTTGAGAAGA TGAAGA 13: 59,623,617 (GRCm39) probably null Het
Ankrd28 A T 14: 31,467,293 (GRCm39) V39E possibly damaging Het
Apaf1 A G 10: 90,897,676 (GRCm39) V269A possibly damaging Het
Astn1 A G 1: 158,348,091 (GRCm39) N506D probably damaging Het
BC051019 G A 7: 109,319,758 (GRCm39) Q102* probably null Het
Bpifb5 A G 2: 154,075,199 (GRCm39) T376A possibly damaging Het
Ccdc121rt1 G T 1: 181,338,551 (GRCm39) Q134K probably benign Het
Ccl20 ATT ATTT 1: 83,095,576 (GRCm39) probably null Het
Ccl6 G T 11: 83,480,163 (GRCm39) P68T possibly damaging Het
Cd300ld A T 11: 114,878,156 (GRCm39) F119I probably benign Het
Cdk2ap2 A G 19: 4,147,903 (GRCm39) M57V possibly damaging Het
Cemip2 A G 19: 21,779,351 (GRCm39) D387G probably benign Het
Chkb C T 15: 89,312,969 (GRCm39) G36E probably damaging Het
Col11a1 A G 3: 113,958,942 (GRCm39) probably null Het
Ctla2b T C 13: 61,043,881 (GRCm39) Y120C probably damaging Het
Cyp2a22 G A 7: 26,634,197 (GRCm39) P319L probably damaging Het
Dcaf12 A C 4: 41,302,804 (GRCm39) V117G probably damaging Het
Ddx6 A G 9: 44,518,831 (GRCm39) T48A probably benign Het
Dgki T C 6: 36,842,736 (GRCm39) D923G possibly damaging Het
Dhx37 G T 5: 125,504,528 (GRCm39) T345K probably damaging Het
Dhx9 A T 1: 153,331,857 (GRCm39) Y1370* probably null Het
Dnah7b T C 1: 46,181,247 (GRCm39) S1045P possibly damaging Het
Dnmbp G C 19: 43,838,612 (GRCm39) T1071S possibly damaging Het
Dspp T A 5: 104,326,425 (GRCm39) S929R unknown Het
Dst A T 1: 34,223,144 (GRCm39) E1625D probably damaging Het
Egflam T A 15: 7,272,048 (GRCm39) H630L probably benign Het
Elane T C 10: 79,723,593 (GRCm39) V186A possibly damaging Het
Fam209 C A 2: 172,314,689 (GRCm39) N59K probably benign Het
Gbe1 A G 16: 70,325,814 (GRCm39) E617G probably damaging Het
Get3 T C 8: 85,751,789 (GRCm39) S36G probably damaging Het
Gfra1 A G 19: 58,288,707 (GRCm39) L246P probably damaging Het
Gria2 T C 3: 80,618,112 (GRCm39) T308A probably benign Het
Grip2 A T 6: 91,756,831 (GRCm39) V540D probably benign Het
Hhipl1 A T 12: 108,288,118 (GRCm39) I575F possibly damaging Het
Hmcn1 T A 1: 150,614,364 (GRCm39) E1347D possibly damaging Het
Itga2b C A 11: 102,358,165 (GRCm39) A187S probably benign Het
Kalrn C A 16: 33,848,415 (GRCm39) R469M probably damaging Het
Kif23 A T 9: 61,834,666 (GRCm39) C426* probably null Het
Lck T C 4: 129,442,730 (GRCm39) N475S probably benign Het
Leng8 A G 7: 4,148,073 (GRCm39) N642S probably damaging Het
Lingo4 T A 3: 94,310,382 (GRCm39) I440N probably damaging Het
Lrrc4 A G 6: 28,830,904 (GRCm39) F237S probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Naip2 A T 13: 100,281,096 (GRCm39) I1316N probably damaging Het
Naip6 C T 13: 100,437,237 (GRCm39) G429S probably benign Het
Noct C T 3: 51,155,465 (GRCm39) R78C probably damaging Het
Npbwr1 A G 1: 5,987,394 (GRCm39) V40A possibly damaging Het
Nsd2 A G 5: 34,000,746 (GRCm39) N88D probably damaging Het
Or1e29 T A 11: 73,667,539 (GRCm39) I205F probably benign Het
Or5ap2 T A 2: 85,680,744 (GRCm39) V316E probably benign Het
Or6c210 T A 10: 129,496,290 (GRCm39) I205N probably benign Het
Or8k28 T C 2: 86,285,817 (GRCm39) H266R probably benign Het
Pak5 T A 2: 135,958,557 (GRCm39) H177L probably benign Het
Pard3 C T 8: 127,791,097 (GRCm39) probably null Het
Pde4c A G 8: 71,200,007 (GRCm39) probably null Het
Pde6h T A 6: 136,940,203 (GRCm39) I63N probably damaging Het
Phldb2 T C 16: 45,594,558 (GRCm39) K916E possibly damaging Het
Ppig T C 2: 69,571,988 (GRCm39) S236P unknown Het
Ptprd T C 4: 75,872,359 (GRCm39) Y1370C probably damaging Het
Pzp T C 6: 128,493,083 (GRCm39) T352A probably benign Het
Rab3gap1 A G 1: 127,831,456 (GRCm39) Y177C possibly damaging Het
Rasgef1a G A 6: 118,066,157 (GRCm39) V457M probably benign Het
Scel A T 14: 103,848,226 (GRCm39) T616S possibly damaging Het
Sel1l A T 12: 91,793,324 (GRCm39) Y228* probably null Het
Sgms1 A G 19: 32,137,083 (GRCm39) V161A possibly damaging Het
Slfnl1 T C 4: 120,390,424 (GRCm39) L25P probably benign Het
Smad5 A G 13: 56,885,187 (GRCm39) T432A probably damaging Het
Sohlh2 T C 3: 55,099,762 (GRCm39) probably null Het
Sphkap A T 1: 83,254,383 (GRCm39) M835K probably damaging Het
Sqor A C 2: 122,640,018 (GRCm39) T174P probably damaging Het
Stkld1 T C 2: 26,842,759 (GRCm39) V577A probably damaging Het
Sulf2 T A 2: 165,922,773 (GRCm39) E652D probably benign Het
Sycp2 T A 2: 178,019,848 (GRCm39) Q556L probably benign Het
Syk A G 13: 52,765,274 (GRCm39) T134A probably benign Het
Tas2r122 T A 6: 132,688,585 (GRCm39) I103F possibly damaging Het
Tex10 A G 4: 48,451,940 (GRCm39) W729R probably damaging Het
Tex261 G T 6: 83,750,713 (GRCm39) P95T probably damaging Het
Tm2d2 T C 8: 25,507,523 (GRCm39) S47P probably benign Het
Tmem95 A G 11: 69,767,817 (GRCm39) S128P probably damaging Het
Tnxb G A 17: 34,911,553 (GRCm39) A1619T possibly damaging Het
Trappc9 A G 15: 72,929,885 (GRCm39) I157T probably damaging Het
Unc13c T A 9: 73,390,897 (GRCm39) probably null Het
Upb1 A T 10: 75,265,803 (GRCm39) Y210F probably damaging Het
Urb1 T C 16: 90,559,232 (GRCm39) M1684V probably benign Het
Wnk2 G A 13: 49,232,158 (GRCm39) P727S possibly damaging Het
Zfp1004 T A 2: 150,034,867 (GRCm39) M396K probably benign Het
Zfp551 A T 7: 12,150,276 (GRCm39) S378T probably damaging Het
Zfp598 T C 17: 24,888,898 (GRCm39) V56A possibly damaging Het
Zfp945 C T 17: 23,076,223 (GRCm39) probably null 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
R1796:Ctnnd1 UTSW 2 84,445,553 (GRCm39) missense probably damaging 1.00
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'- AGACTGCCGTAGTTGTCACTG -3'
(R):5'- CCATTGAGGGCTTCTGTAGG -3'

Sequencing Primer
(F):5'- AGTTGTCACTGCCACCTGGATAAC -3'
(R):5'- CACTTCTGTATAAAGACCTAGAGGG -3'
Posted On 2014-08-25