Incidental Mutation 'IGL03352:Pcdhb14'
ID 419749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb14
Ensembl Gene ENSMUSG00000044043
Gene Name protocadherin beta 14
Synonyms Pcdhb17, 2210006M07Rik, PcdhbN
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL03352
Quality Score
Status
Chromosome 18
Chromosomal Location 37580710-37584147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37582057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 388 (R388C)
Ref Sequence ENSEMBL: ENSMUSP00000054111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q6PB90
PDB Structure Solution structure of mouse protocadherin beta 14 (26-137) [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052387
AA Change: R388C

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: R388C

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 1.4e-35 PFAM
CA 155 240 1.53e-20 SMART
CA 264 345 3.52e-29 SMART
CA 368 449 2.24e-22 SMART
CA 473 559 2.38e-26 SMART
CA 589 670 4.12e-12 SMART
Pfam:Cadherin_C_2 685 768 4.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056915
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 58 130 5.5e-1 SMART
CA 154 239 8.55e-19 SMART
CA 263 343 3.36e-26 SMART
CA 366 447 2.24e-22 SMART
CA 471 557 1.08e-24 SMART
CA 587 668 1.25e-11 SMART
Pfam:Cadherin_C_2 685 768 2.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Arhgef10l A T 4: 140,311,242 (GRCm39) M1K probably null Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Fcrl1 T C 3: 87,292,398 (GRCm39) L150P probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
H2-Oa A T 17: 34,313,377 (GRCm39) I143F probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or2h1 G A 17: 37,404,311 (GRCm39) L152F probably benign Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Retsat T C 6: 72,575,666 (GRCm39) V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S probably benign Het
Other mutations in Pcdhb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Pcdhb14 APN 18 37,583,086 (GRCm39) missense probably benign 0.28
IGL02314:Pcdhb14 APN 18 37,583,248 (GRCm39) missense probably benign 0.03
IGL02411:Pcdhb14 APN 18 37,582,823 (GRCm39) missense possibly damaging 0.78
IGL02553:Pcdhb14 APN 18 37,581,071 (GRCm39) nonsense probably null
IGL02797:Pcdhb14 APN 18 37,582,904 (GRCm39) missense probably damaging 1.00
IGL03184:Pcdhb14 APN 18 37,582,085 (GRCm39) missense probably benign 0.00
R0166:Pcdhb14 UTSW 18 37,581,542 (GRCm39) splice site probably null
R0467:Pcdhb14 UTSW 18 37,582,277 (GRCm39) missense probably damaging 0.98
R0675:Pcdhb14 UTSW 18 37,581,392 (GRCm39) missense possibly damaging 0.91
R0730:Pcdhb14 UTSW 18 37,581,921 (GRCm39) missense probably damaging 1.00
R1119:Pcdhb14 UTSW 18 37,581,640 (GRCm39) missense probably damaging 0.99
R1121:Pcdhb14 UTSW 18 37,582,645 (GRCm39) missense probably damaging 1.00
R1338:Pcdhb14 UTSW 18 37,582,943 (GRCm39) missense probably benign 0.00
R1726:Pcdhb14 UTSW 18 37,582,647 (GRCm39) nonsense probably null
R1743:Pcdhb14 UTSW 18 37,581,231 (GRCm39) missense probably benign 0.01
R1779:Pcdhb14 UTSW 18 37,582,535 (GRCm39) missense probably damaging 1.00
R1795:Pcdhb14 UTSW 18 37,582,588 (GRCm39) missense probably benign
R2131:Pcdhb14 UTSW 18 37,580,923 (GRCm39) missense probably benign 0.00
R2133:Pcdhb14 UTSW 18 37,580,923 (GRCm39) missense probably benign 0.00
R3792:Pcdhb14 UTSW 18 37,582,715 (GRCm39) missense probably damaging 1.00
R3916:Pcdhb14 UTSW 18 37,581,598 (GRCm39) missense possibly damaging 0.48
R4197:Pcdhb14 UTSW 18 37,581,358 (GRCm39) missense probably benign 0.01
R4282:Pcdhb14 UTSW 18 37,583,195 (GRCm39) missense probably damaging 1.00
R4657:Pcdhb14 UTSW 18 37,581,900 (GRCm39) missense possibly damaging 0.92
R4801:Pcdhb14 UTSW 18 37,581,331 (GRCm39) missense probably benign 0.28
R4802:Pcdhb14 UTSW 18 37,581,331 (GRCm39) missense probably benign 0.28
R5022:Pcdhb14 UTSW 18 37,583,223 (GRCm39) missense probably benign 0.03
R5034:Pcdhb14 UTSW 18 37,581,859 (GRCm39) missense probably damaging 0.98
R5664:Pcdhb14 UTSW 18 37,582,049 (GRCm39) missense possibly damaging 0.54
R5840:Pcdhb14 UTSW 18 37,581,803 (GRCm39) missense probably benign 0.23
R5966:Pcdhb14 UTSW 18 37,581,295 (GRCm39) missense probably benign
R6090:Pcdhb14 UTSW 18 37,581,659 (GRCm39) missense probably benign 0.45
R6148:Pcdhb14 UTSW 18 37,582,283 (GRCm39) missense probably damaging 1.00
R6187:Pcdhb14 UTSW 18 37,581,497 (GRCm39) missense probably damaging 1.00
R6972:Pcdhb14 UTSW 18 37,582,745 (GRCm39) missense probably damaging 1.00
R7394:Pcdhb14 UTSW 18 37,581,961 (GRCm39) missense probably benign 0.29
R7510:Pcdhb14 UTSW 18 37,582,645 (GRCm39) missense probably damaging 0.97
R7724:Pcdhb14 UTSW 18 37,581,937 (GRCm39) missense possibly damaging 0.62
R7757:Pcdhb14 UTSW 18 37,582,887 (GRCm39) missense possibly damaging 0.95
R8305:Pcdhb14 UTSW 18 37,583,075 (GRCm39) missense possibly damaging 0.48
R8338:Pcdhb14 UTSW 18 37,582,175 (GRCm39) missense probably damaging 1.00
R8497:Pcdhb14 UTSW 18 37,582,349 (GRCm39) missense probably benign 0.02
R8700:Pcdhb14 UTSW 18 37,582,652 (GRCm39) missense probably damaging 1.00
R8792:Pcdhb14 UTSW 18 37,582,541 (GRCm39) missense probably damaging 0.99
R8891:Pcdhb14 UTSW 18 37,582,692 (GRCm39) missense probably damaging 1.00
R8992:Pcdhb14 UTSW 18 37,582,231 (GRCm39) missense probably damaging 1.00
R9043:Pcdhb14 UTSW 18 37,581,851 (GRCm39) missense probably damaging 0.98
R9069:Pcdhb14 UTSW 18 37,583,157 (GRCm39) nonsense probably null
R9127:Pcdhb14 UTSW 18 37,582,091 (GRCm39) missense probably damaging 0.99
R9345:Pcdhb14 UTSW 18 37,581,281 (GRCm39) missense probably damaging 0.98
R9470:Pcdhb14 UTSW 18 37,581,076 (GRCm39) missense probably benign
R9626:Pcdhb14 UTSW 18 37,581,787 (GRCm39) missense probably damaging 1.00
R9758:Pcdhb14 UTSW 18 37,582,040 (GRCm39) missense probably benign 0.08
X0065:Pcdhb14 UTSW 18 37,583,037 (GRCm39) nonsense probably null
X0065:Pcdhb14 UTSW 18 37,582,474 (GRCm39) missense possibly damaging 0.95
Z1177:Pcdhb14 UTSW 18 37,582,907 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02