Incidental Mutation 'IGL02453:Cdhr3'
ID 293733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdhr3
Ensembl Gene ENSMUSG00000035860
Gene Name cadherin-related family member 3
Synonyms 1110049B09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02453
Quality Score
Status
Chromosome 12
Chromosomal Location 33083795-33142874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33092502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 703 (Y703C)
Ref Sequence ENSEMBL: ENSMUSP00000093449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095774]
AlphaFold Q8BL00
Predicted Effect probably damaging
Transcript: ENSMUST00000095774
AA Change: Y703C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: Y703C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CA 36 131 5.54e-2 SMART
CA 156 234 3.73e-10 SMART
CA 258 343 5.47e-17 SMART
CA 369 459 9.87e-1 SMART
CA 483 564 1.17e-16 SMART
CA 590 683 1.1e0 SMART
transmembrane domain 708 730 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,075 (GRCm39) probably null Het
Actr1b A G 1: 36,741,588 (GRCm39) S51P probably damaging Het
Col9a1 A T 1: 24,218,438 (GRCm39) L54F unknown Het
Crim1 A G 17: 78,651,913 (GRCm39) K546E probably damaging Het
Dap3 A G 3: 88,835,634 (GRCm39) V240A probably benign Het
Dmtf1l G T X: 125,722,223 (GRCm39) S294* probably null Het
Dmtf1l T C X: 125,722,686 (GRCm39) I140V possibly damaging Het
Hadha T C 5: 30,349,304 (GRCm39) probably benign Het
Imp3 G T 9: 56,845,293 (GRCm39) R168L probably benign Het
Or1b1 A T 2: 36,995,209 (GRCm39) V151E probably benign Het
Otop2 T A 11: 115,215,455 (GRCm39) Y125* probably null Het
Pacs1 A G 19: 5,185,033 (GRCm39) W931R probably damaging Het
Rasgrf1 A T 9: 89,826,813 (GRCm39) M141L possibly damaging Het
Ryr3 C A 2: 112,512,073 (GRCm39) probably benign Het
Strbp A T 2: 37,476,520 (GRCm39) probably null Het
Sult2a5 T A 7: 13,396,432 (GRCm39) M173K possibly damaging Het
Tmem63a G A 1: 180,790,634 (GRCm39) V431M probably benign Het
Vmn2r114 T A 17: 23,530,108 (GRCm39) T100S probably benign Het
Wdr45 T C X: 7,593,520 (GRCm39) probably null Het
Other mutations in Cdhr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Cdhr3 APN 12 33,102,208 (GRCm39) missense probably benign 0.00
IGL01508:Cdhr3 APN 12 33,103,427 (GRCm39) missense possibly damaging 0.84
IGL02396:Cdhr3 APN 12 33,095,195 (GRCm39) missense possibly damaging 0.64
IGL02414:Cdhr3 APN 12 33,092,503 (GRCm39) missense possibly damaging 0.76
IGL02450:Cdhr3 APN 12 33,132,224 (GRCm39) missense probably benign
IGL02567:Cdhr3 APN 12 33,088,900 (GRCm39) missense probably benign 0.02
IGL03342:Cdhr3 APN 12 33,101,054 (GRCm39) missense probably benign 0.14
R0022:Cdhr3 UTSW 12 33,132,263 (GRCm39) missense probably damaging 1.00
R0022:Cdhr3 UTSW 12 33,132,263 (GRCm39) missense probably damaging 1.00
R0133:Cdhr3 UTSW 12 33,142,751 (GRCm39) missense possibly damaging 0.94
R0140:Cdhr3 UTSW 12 33,130,412 (GRCm39) missense probably benign 0.00
R0157:Cdhr3 UTSW 12 33,111,649 (GRCm39) missense possibly damaging 0.52
R0762:Cdhr3 UTSW 12 33,110,300 (GRCm39) missense probably benign 0.01
R1421:Cdhr3 UTSW 12 33,110,291 (GRCm39) missense probably damaging 1.00
R1553:Cdhr3 UTSW 12 33,092,370 (GRCm39) missense probably benign 0.10
R1691:Cdhr3 UTSW 12 33,132,246 (GRCm39) missense probably damaging 0.99
R1822:Cdhr3 UTSW 12 33,095,204 (GRCm39) missense probably null 1.00
R1855:Cdhr3 UTSW 12 33,110,351 (GRCm39) missense probably damaging 1.00
R1897:Cdhr3 UTSW 12 33,095,192 (GRCm39) missense possibly damaging 0.81
R2496:Cdhr3 UTSW 12 33,099,068 (GRCm39) missense probably benign 0.01
R2507:Cdhr3 UTSW 12 33,088,914 (GRCm39) missense probably benign
R3155:Cdhr3 UTSW 12 33,099,152 (GRCm39) missense possibly damaging 0.83
R3906:Cdhr3 UTSW 12 33,103,427 (GRCm39) missense probably damaging 0.97
R4005:Cdhr3 UTSW 12 33,130,355 (GRCm39) missense probably damaging 0.98
R4277:Cdhr3 UTSW 12 33,110,232 (GRCm39) missense probably null 0.16
R4573:Cdhr3 UTSW 12 33,118,152 (GRCm39) splice site probably null
R4752:Cdhr3 UTSW 12 33,136,102 (GRCm39) missense probably damaging 0.99
R5364:Cdhr3 UTSW 12 33,101,007 (GRCm39) missense possibly damaging 0.67
R5562:Cdhr3 UTSW 12 33,101,054 (GRCm39) missense probably benign 0.01
R5564:Cdhr3 UTSW 12 33,098,985 (GRCm39) nonsense probably null
R5768:Cdhr3 UTSW 12 33,096,685 (GRCm39) missense possibly damaging 0.73
R6255:Cdhr3 UTSW 12 33,103,474 (GRCm39) missense probably damaging 1.00
R6821:Cdhr3 UTSW 12 33,085,044 (GRCm39) missense probably damaging 1.00
R6983:Cdhr3 UTSW 12 33,092,379 (GRCm39) missense probably benign 0.32
R7155:Cdhr3 UTSW 12 33,111,772 (GRCm39) missense probably damaging 1.00
R7496:Cdhr3 UTSW 12 33,110,264 (GRCm39) missense probably damaging 1.00
R7736:Cdhr3 UTSW 12 33,103,519 (GRCm39) missense probably benign 0.33
R7788:Cdhr3 UTSW 12 33,110,319 (GRCm39) missense probably damaging 1.00
R8178:Cdhr3 UTSW 12 33,098,931 (GRCm39) splice site probably null
R9226:Cdhr3 UTSW 12 33,132,320 (GRCm39) missense probably damaging 0.99
R9592:Cdhr3 UTSW 12 33,136,007 (GRCm39) missense possibly damaging 0.87
RF023:Cdhr3 UTSW 12 33,110,348 (GRCm39) missense probably damaging 1.00
X0024:Cdhr3 UTSW 12 33,117,235 (GRCm39) missense possibly damaging 0.90
X0028:Cdhr3 UTSW 12 33,092,455 (GRCm39) missense probably benign
Z1176:Cdhr3 UTSW 12 33,130,323 (GRCm39) missense probably benign 0.23
Z1176:Cdhr3 UTSW 12 33,110,321 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16