Incidental Mutation 'R5595:Ctnnd2'
ID 437797
Institutional Source Beutler Lab
Gene Symbol Ctnnd2
Ensembl Gene ENSMUSG00000022240
Gene Name catenin delta 2
Synonyms Nprap, Catnd2, neurojugin, catenin (cadherin associated protein), delta 2
MMRRC Submission 043147-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5595 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 30172739-31029487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30669689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 433 (L433F)
Ref Sequence ENSEMBL: ENSMUSP00000154410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081728] [ENSMUST00000226119]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081728
AA Change: L433F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: L433F

DomainStartEndE-ValueType
coiled coil region 50 84 N/A INTRINSIC
low complexity region 87 97 N/A INTRINSIC
low complexity region 148 159 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
low complexity region 238 257 N/A INTRINSIC
ARM 577 617 1.85e-8 SMART
ARM 621 662 1.15e-9 SMART
ARM 663 720 1.51e1 SMART
ARM 722 769 2.74e1 SMART
ARM 830 871 4.88e0 SMART
ARM 902 942 2.76e-7 SMART
low complexity region 964 973 N/A INTRINSIC
ARM 995 1039 5.64e-4 SMART
low complexity region 1086 1099 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226119
AA Change: L433F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228753
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,682,143 (GRCm39) F991S probably benign Het
4931406B18Rik A G 7: 43,147,296 (GRCm39) I218T possibly damaging Het
9930111J21Rik2 C T 11: 48,910,538 (GRCm39) A632T possibly damaging Het
Akt1 A T 12: 112,625,050 (GRCm39) L166Q probably null Het
Alpk2 A T 18: 65,399,319 (GRCm39) D2086E probably damaging Het
Ankrd11 A T 8: 123,621,043 (GRCm39) C915* probably null Het
Ankrd44 T C 1: 54,801,506 (GRCm39) T274A probably damaging Het
Ankrd44 A T 1: 54,774,209 (GRCm39) I398K probably damaging Het
Arhgef2 A G 3: 88,550,283 (GRCm39) T663A probably benign Het
Btbd16 G A 7: 130,425,033 (GRCm39) M471I possibly damaging Het
Btbd16 C A 7: 130,425,034 (GRCm39) Q472K probably damaging Het
Cdc37 G A 9: 21,054,509 (GRCm39) R39C probably damaging Het
Cnnm1 A G 19: 43,453,596 (GRCm39) N537S possibly damaging Het
Cop1 T A 1: 159,077,643 (GRCm39) D159E probably benign Het
Crtac1 C T 19: 42,402,390 (GRCm39) V73I probably benign Het
Cryz T A 3: 154,312,155 (GRCm39) V84E probably damaging Het
Ctsq C A 13: 61,184,874 (GRCm39) D271Y probably benign Het
Cyp3a25 A C 5: 145,931,673 (GRCm39) probably null Het
Dmbt1 G C 7: 130,655,797 (GRCm39) W412C probably benign Het
Eif4e1b G A 13: 54,934,529 (GRCm39) V131I possibly damaging Het
Epha1 A G 6: 42,341,568 (GRCm39) V494A possibly damaging Het
Fbxl4 T C 4: 22,433,641 (GRCm39) S593P probably damaging Het
Fbxo41 G A 6: 85,456,883 (GRCm39) P429S probably benign Het
Fem1al T C 11: 29,774,288 (GRCm39) N390D probably benign Het
Fgfr3 G A 5: 33,887,347 (GRCm39) C204Y probably damaging Het
Gbf1 T C 19: 46,272,861 (GRCm39) V1665A possibly damaging Het
Htt T A 5: 35,062,741 (GRCm39) V2825E probably damaging Het
Irs1 A T 1: 82,267,646 (GRCm39) V190E probably damaging Het
Kics2 T C 10: 121,576,052 (GRCm39) probably benign Het
Klk1 T C 7: 43,878,161 (GRCm39) probably null Het
Kmt2d T C 15: 98,747,905 (GRCm39) probably benign Het
Meox1 T C 11: 101,770,169 (GRCm39) E186G probably damaging Het
Micu2 G A 14: 58,209,201 (GRCm39) R86W probably damaging Het
Mrgprb1 A T 7: 48,097,432 (GRCm39) I160K probably damaging Het
Nckap1l T A 15: 103,384,085 (GRCm39) M561K possibly damaging Het
Or4c104 A T 2: 88,586,749 (GRCm39) I90N probably damaging Het
Or52s6 A T 7: 103,091,635 (GRCm39) S232T probably damaging Het
Or56b35 A T 7: 104,963,213 (GRCm39) M1L probably benign Het
Otoa T A 7: 120,721,200 (GRCm39) L405H probably damaging Het
Phyhip A T 14: 70,704,314 (GRCm39) M178L probably benign Het
Pkd1l3 A T 8: 110,382,152 (GRCm39) N1630I probably damaging Het
Plek2 T A 12: 78,940,883 (GRCm39) T247S probably benign Het
Rhbdl3 T C 11: 80,228,409 (GRCm39) V293A probably damaging Het
Rock2 T A 12: 16,992,810 (GRCm39) F193Y probably damaging Het
Scn3a C T 2: 65,291,057 (GRCm39) M1896I probably benign Het
Snrnp200 T C 2: 127,067,933 (GRCm39) V810A probably damaging Het
Taar4 G A 10: 23,836,639 (GRCm39) S83N probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tec T A 5: 72,926,087 (GRCm39) I322F possibly damaging Het
Teddm2 T C 1: 153,726,146 (GRCm39) I190V probably benign Het
Tmem117 A G 15: 94,992,765 (GRCm39) E475G probably damaging Het
Trip10 T A 17: 57,569,460 (GRCm39) Y495N probably damaging Het
Ush2a T C 1: 188,638,695 (GRCm39) V4035A possibly damaging Het
Utrn C T 10: 12,558,062 (GRCm39) V1466M possibly damaging Het
Vasp A G 7: 18,991,816 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,953,857 (GRCm39) M130L possibly damaging Het
Vmn2r2 A T 3: 64,034,036 (GRCm39) D495E possibly damaging Het
Zfp213 A G 17: 23,780,160 (GRCm39) V120A possibly damaging Het
Other mutations in Ctnnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Ctnnd2 APN 15 30,647,287 (GRCm39) missense possibly damaging 0.73
IGL01612:Ctnnd2 APN 15 31,005,164 (GRCm39) missense probably damaging 1.00
IGL01923:Ctnnd2 APN 15 30,480,974 (GRCm39) missense probably damaging 0.99
IGL02183:Ctnnd2 APN 15 31,020,886 (GRCm39) missense probably damaging 1.00
IGL02186:Ctnnd2 APN 15 30,480,939 (GRCm39) missense probably damaging 0.99
IGL02226:Ctnnd2 APN 15 30,847,482 (GRCm39) missense probably benign 0.01
IGL02307:Ctnnd2 APN 15 30,647,357 (GRCm39) missense possibly damaging 0.86
IGL02407:Ctnnd2 APN 15 30,966,914 (GRCm39) missense probably damaging 1.00
IGL02474:Ctnnd2 APN 15 30,669,708 (GRCm39) missense possibly damaging 0.71
IGL02718:Ctnnd2 APN 15 31,027,762 (GRCm39) missense probably damaging 1.00
IGL03249:Ctnnd2 APN 15 30,683,382 (GRCm39) missense probably benign 0.45
IGL03328:Ctnnd2 APN 15 30,921,993 (GRCm39) splice site probably benign
carpe UTSW 15 30,905,966 (GRCm39) missense probably damaging 1.00
diem UTSW 15 30,683,493 (GRCm39) missense possibly damaging 0.85
P0016:Ctnnd2 UTSW 15 30,967,084 (GRCm39) missense probably benign 0.00
R0130:Ctnnd2 UTSW 15 30,922,059 (GRCm39) missense probably damaging 1.00
R0408:Ctnnd2 UTSW 15 30,634,823 (GRCm39) missense probably damaging 1.00
R0611:Ctnnd2 UTSW 15 31,009,230 (GRCm39) missense possibly damaging 0.75
R0894:Ctnnd2 UTSW 15 30,332,301 (GRCm39) splice site probably benign
R1112:Ctnnd2 UTSW 15 30,922,026 (GRCm39) missense probably damaging 1.00
R1459:Ctnnd2 UTSW 15 30,847,445 (GRCm39) missense probably damaging 1.00
R1529:Ctnnd2 UTSW 15 30,887,267 (GRCm39) missense possibly damaging 0.91
R1532:Ctnnd2 UTSW 15 30,922,014 (GRCm39) missense probably damaging 1.00
R1701:Ctnnd2 UTSW 15 30,922,127 (GRCm39) missense probably damaging 1.00
R1807:Ctnnd2 UTSW 15 30,620,017 (GRCm39) missense probably damaging 1.00
R1881:Ctnnd2 UTSW 15 31,005,227 (GRCm39) splice site probably benign
R1960:Ctnnd2 UTSW 15 30,647,257 (GRCm39) missense probably damaging 0.96
R2121:Ctnnd2 UTSW 15 30,669,660 (GRCm39) missense probably damaging 1.00
R3839:Ctnnd2 UTSW 15 31,009,174 (GRCm39) splice site probably null
R3967:Ctnnd2 UTSW 15 30,647,075 (GRCm39) missense possibly damaging 0.81
R3980:Ctnnd2 UTSW 15 30,669,589 (GRCm39) missense probably benign 0.14
R4207:Ctnnd2 UTSW 15 30,972,973 (GRCm39) missense probably damaging 0.99
R4279:Ctnnd2 UTSW 15 30,905,966 (GRCm39) missense probably damaging 1.00
R4498:Ctnnd2 UTSW 15 30,620,020 (GRCm39) missense probably damaging 1.00
R4622:Ctnnd2 UTSW 15 31,009,259 (GRCm39) missense probably benign 0.00
R4622:Ctnnd2 UTSW 15 30,887,315 (GRCm39) missense probably benign 0.17
R4860:Ctnnd2 UTSW 15 30,881,313 (GRCm39) missense probably damaging 1.00
R4860:Ctnnd2 UTSW 15 30,881,313 (GRCm39) missense probably damaging 1.00
R4979:Ctnnd2 UTSW 15 31,009,221 (GRCm39) missense probably damaging 1.00
R5086:Ctnnd2 UTSW 15 30,683,493 (GRCm39) missense possibly damaging 0.85
R5330:Ctnnd2 UTSW 15 30,332,261 (GRCm39) missense probably damaging 1.00
R5459:Ctnnd2 UTSW 15 30,887,334 (GRCm39) missense probably damaging 1.00
R5809:Ctnnd2 UTSW 15 30,847,523 (GRCm39) missense probably damaging 1.00
R5987:Ctnnd2 UTSW 15 30,683,387 (GRCm39) missense probably benign
R6245:Ctnnd2 UTSW 15 30,905,894 (GRCm39) missense probably damaging 1.00
R6379:Ctnnd2 UTSW 15 30,634,844 (GRCm39) missense probably damaging 1.00
R6737:Ctnnd2 UTSW 15 30,966,980 (GRCm39) nonsense probably null
R6979:Ctnnd2 UTSW 15 30,619,376 (GRCm39) missense probably damaging 0.99
R7133:Ctnnd2 UTSW 15 30,480,995 (GRCm39) missense possibly damaging 0.47
R7179:Ctnnd2 UTSW 15 30,683,510 (GRCm39) missense possibly damaging 0.95
R7267:Ctnnd2 UTSW 15 30,683,501 (GRCm39) missense probably benign 0.13
R7275:Ctnnd2 UTSW 15 30,905,855 (GRCm39) missense possibly damaging 0.94
R7386:Ctnnd2 UTSW 15 30,966,914 (GRCm39) missense probably damaging 1.00
R7649:Ctnnd2 UTSW 15 31,027,630 (GRCm39) missense probably benign 0.11
R7814:Ctnnd2 UTSW 15 31,020,874 (GRCm39) missense probably benign 0.00
R7849:Ctnnd2 UTSW 15 31,027,733 (GRCm39) missense probably damaging 1.00
R7857:Ctnnd2 UTSW 15 30,620,076 (GRCm39) missense probably benign 0.01
R8057:Ctnnd2 UTSW 15 30,847,497 (GRCm39) missense possibly damaging 0.89
R8236:Ctnnd2 UTSW 15 30,647,164 (GRCm39) missense probably benign
R8260:Ctnnd2 UTSW 15 30,634,879 (GRCm39) missense possibly damaging 0.84
R8411:Ctnnd2 UTSW 15 30,647,179 (GRCm39) missense probably benign 0.33
R8802:Ctnnd2 UTSW 15 30,967,022 (GRCm39) missense probably damaging 1.00
R8891:Ctnnd2 UTSW 15 30,620,076 (GRCm39) missense probably benign 0.01
R8907:Ctnnd2 UTSW 15 30,905,873 (GRCm39) missense probably damaging 1.00
R8989:Ctnnd2 UTSW 15 30,669,660 (GRCm39) missense probably damaging 1.00
R9017:Ctnnd2 UTSW 15 30,881,316 (GRCm39) missense probably damaging 0.96
R9035:Ctnnd2 UTSW 15 30,332,162 (GRCm39) missense possibly damaging 0.77
R9061:Ctnnd2 UTSW 15 30,806,884 (GRCm39) missense probably damaging 1.00
R9303:Ctnnd2 UTSW 15 30,967,037 (GRCm39) missense probably damaging 0.99
R9475:Ctnnd2 UTSW 15 30,881,276 (GRCm39) missense probably damaging 1.00
Z1088:Ctnnd2 UTSW 15 30,966,959 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TTGGCTGAGTTTTAATGTTCCC -3'
(R):5'- CTGATGATAGAAGCAGGCCG -3'

Sequencing Primer
(F):5'- GCTGAGTTTTAATGTTCCCATGTTC -3'
(R):5'- GGCGTGACTGGAAACACAC -3'
Posted On 2016-10-26