Incidental Mutation 'IGL03119:Pcdhb15'
ID 409896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb15
Ensembl Gene ENSMUSG00000047033
Gene Name protocadherin beta 15
Synonyms PcdhbO, Pcdhb7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL03119
Quality Score
Status
Chromosome 18
Chromosomal Location 37473540-37476340 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37475014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 433 (T433N)
Ref Sequence ENSEMBL: ENSMUSP00000059598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y04
Predicted Effect probably damaging
Transcript: ENSMUST00000050034
AA Change: T433N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: T433N

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 2.6e-33 PFAM
CA 155 240 7.79e-22 SMART
CA 264 345 4.37e-25 SMART
CA 368 449 4.4e-21 SMART
CA 473 559 7.38e-23 SMART
CA 589 670 4.48e-13 SMART
Pfam:Cadherin_C_2 686 770 5.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051442
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 46 132 7.7e-1 SMART
CA 156 241 1.93e-17 SMART
CA 265 346 4.2e-27 SMART
CA 369 450 1.08e-24 SMART
CA 474 560 3.31e-25 SMART
CA 590 671 2.87e-11 SMART
Pfam:Cadherin_C_2 687 770 4.1e-27 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
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 E708G probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
E2f3 A G 13: 29,985,365 S102P probably benign Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 V121A probably benign Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Peli1 T C 11: 21,140,560 probably benign Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Stat2 A G 10: 128,283,517 M457V probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in Pcdhb15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Pcdhb15 APN 18 37475154 missense probably damaging 1.00
IGL01536:Pcdhb15 APN 18 37474993 missense probably benign 0.01
IGL01664:Pcdhb15 APN 18 37474261 missense probably benign 0.35
IGL02001:Pcdhb15 APN 18 37474038 missense probably benign 0.01
IGL02161:Pcdhb15 APN 18 37475502 missense possibly damaging 0.78
IGL02205:Pcdhb15 APN 18 37473957 missense probably damaging 0.99
IGL02748:Pcdhb15 APN 18 37475220 missense probably damaging 0.98
IGL02828:Pcdhb15 APN 18 37473850 missense probably damaging 0.97
IGL02974:Pcdhb15 APN 18 37475014 missense probably damaging 1.00
IGL03136:Pcdhb15 APN 18 37475014 missense probably damaging 1.00
IGL03150:Pcdhb15 APN 18 37475014 missense probably damaging 1.00
PIT1430001:Pcdhb15 UTSW 18 37475671 missense probably benign 0.15
R0266:Pcdhb15 UTSW 18 37475276 missense probably damaging 1.00
R0288:Pcdhb15 UTSW 18 37475398 missense probably damaging 1.00
R0399:Pcdhb15 UTSW 18 37474168 missense possibly damaging 0.56
R0400:Pcdhb15 UTSW 18 37475895 missense probably benign
R0554:Pcdhb15 UTSW 18 37474519 missense probably damaging 1.00
R0637:Pcdhb15 UTSW 18 37475566 missense probably damaging 1.00
R0714:Pcdhb15 UTSW 18 37474621 missense probably damaging 0.98
R1118:Pcdhb15 UTSW 18 37473762 missense probably benign 0.01
R1423:Pcdhb15 UTSW 18 37473922 missense probably damaging 0.97
R1672:Pcdhb15 UTSW 18 37474660 missense probably damaging 1.00
R1681:Pcdhb15 UTSW 18 37473813 missense probably damaging 1.00
R1779:Pcdhb15 UTSW 18 37476031 missense possibly damaging 0.95
R2206:Pcdhb15 UTSW 18 37475022 missense probably benign 0.05
R2207:Pcdhb15 UTSW 18 37475022 missense probably benign 0.05
R2274:Pcdhb15 UTSW 18 37475443 missense probably damaging 1.00
R3406:Pcdhb15 UTSW 18 37475389 missense probably benign 0.41
R3407:Pcdhb15 UTSW 18 37474389 missense possibly damaging 0.80
R3417:Pcdhb15 UTSW 18 37475163 missense probably damaging 1.00
R3752:Pcdhb15 UTSW 18 37473757 missense probably damaging 1.00
R3773:Pcdhb15 UTSW 18 37475890 missense probably benign 0.00
R4432:Pcdhb15 UTSW 18 37475512 missense probably damaging 1.00
R4433:Pcdhb15 UTSW 18 37475512 missense probably damaging 1.00
R4583:Pcdhb15 UTSW 18 37475575 missense possibly damaging 0.91
R4612:Pcdhb15 UTSW 18 37475595 missense probably damaging 0.96
R4988:Pcdhb15 UTSW 18 37475802 missense probably damaging 0.98
R5635:Pcdhb15 UTSW 18 37473770 nonsense probably null
R5692:Pcdhb15 UTSW 18 37474449 missense probably benign 0.01
R5742:Pcdhb15 UTSW 18 37474767 missense probably damaging 0.99
R5913:Pcdhb15 UTSW 18 37474654 missense probably benign 0.07
R6350:Pcdhb15 UTSW 18 37475361 missense probably damaging 1.00
R6522:Pcdhb15 UTSW 18 37474261 missense probably benign 0.35
R6676:Pcdhb15 UTSW 18 37474807 missense possibly damaging 0.60
R6693:Pcdhb15 UTSW 18 37474341 missense probably benign 0.01
R6905:Pcdhb15 UTSW 18 37474695 missense possibly damaging 0.95
R7029:Pcdhb15 UTSW 18 37475568 missense possibly damaging 0.85
R7335:Pcdhb15 UTSW 18 37474336 missense probably damaging 1.00
R7529:Pcdhb15 UTSW 18 37474473 nonsense probably null
R7718:Pcdhb15 UTSW 18 37475163 missense probably damaging 1.00
R7782:Pcdhb15 UTSW 18 37474735 missense possibly damaging 0.88
R7967:Pcdhb15 UTSW 18 37474849 missense probably damaging 1.00
R8170:Pcdhb15 UTSW 18 37475584 missense probably damaging 1.00
R8323:Pcdhb15 UTSW 18 37475662 missense probably benign 0.18
R8725:Pcdhb15 UTSW 18 37475681 missense probably damaging 0.99
R8820:Pcdhb15 UTSW 18 37473918 missense probably benign 0.03
R9117:Pcdhb15 UTSW 18 37475037 missense probably damaging 1.00
R9280:Pcdhb15 UTSW 18 37474741 missense probably damaging 1.00
R9367:Pcdhb15 UTSW 18 37474918 missense possibly damaging 0.95
R9424:Pcdhb15 UTSW 18 37474210 missense
R9432:Pcdhb15 UTSW 18 37475630 missense probably benign 0.04
X0062:Pcdhb15 UTSW 18 37476015 nonsense probably null
X0063:Pcdhb15 UTSW 18 37475084 nonsense probably null
Posted On 2016-08-02