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 Pcdhb7, PcdhbO
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL03119
Quality Score
Status
Chromosome 18
Chromosomal Location 37606599-37609393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37608067 bp (GRCm39)
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: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Pcdhb15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Pcdhb15 APN 18 37,608,207 (GRCm39) missense probably damaging 1.00
IGL01536:Pcdhb15 APN 18 37,608,046 (GRCm39) missense probably benign 0.01
IGL01664:Pcdhb15 APN 18 37,607,314 (GRCm39) missense probably benign 0.35
IGL02001:Pcdhb15 APN 18 37,607,091 (GRCm39) missense probably benign 0.01
IGL02161:Pcdhb15 APN 18 37,608,555 (GRCm39) missense possibly damaging 0.78
IGL02205:Pcdhb15 APN 18 37,607,010 (GRCm39) missense probably damaging 0.99
IGL02748:Pcdhb15 APN 18 37,608,273 (GRCm39) missense probably damaging 0.98
IGL02828:Pcdhb15 APN 18 37,606,903 (GRCm39) missense probably damaging 0.97
IGL02974:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
IGL03136:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
IGL03150:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
PIT1430001:Pcdhb15 UTSW 18 37,608,724 (GRCm39) missense probably benign 0.15
R0266:Pcdhb15 UTSW 18 37,608,329 (GRCm39) missense probably damaging 1.00
R0288:Pcdhb15 UTSW 18 37,608,451 (GRCm39) missense probably damaging 1.00
R0399:Pcdhb15 UTSW 18 37,607,221 (GRCm39) missense possibly damaging 0.56
R0400:Pcdhb15 UTSW 18 37,608,948 (GRCm39) missense probably benign
R0554:Pcdhb15 UTSW 18 37,607,572 (GRCm39) missense probably damaging 1.00
R0637:Pcdhb15 UTSW 18 37,608,619 (GRCm39) missense probably damaging 1.00
R0714:Pcdhb15 UTSW 18 37,607,674 (GRCm39) missense probably damaging 0.98
R1118:Pcdhb15 UTSW 18 37,606,815 (GRCm39) missense probably benign 0.01
R1423:Pcdhb15 UTSW 18 37,606,975 (GRCm39) missense probably damaging 0.97
R1672:Pcdhb15 UTSW 18 37,607,713 (GRCm39) missense probably damaging 1.00
R1681:Pcdhb15 UTSW 18 37,606,866 (GRCm39) missense probably damaging 1.00
R1779:Pcdhb15 UTSW 18 37,609,084 (GRCm39) missense possibly damaging 0.95
R2206:Pcdhb15 UTSW 18 37,608,075 (GRCm39) missense probably benign 0.05
R2207:Pcdhb15 UTSW 18 37,608,075 (GRCm39) missense probably benign 0.05
R2274:Pcdhb15 UTSW 18 37,608,496 (GRCm39) missense probably damaging 1.00
R3406:Pcdhb15 UTSW 18 37,608,442 (GRCm39) missense probably benign 0.41
R3407:Pcdhb15 UTSW 18 37,607,442 (GRCm39) missense possibly damaging 0.80
R3417:Pcdhb15 UTSW 18 37,608,216 (GRCm39) missense probably damaging 1.00
R3752:Pcdhb15 UTSW 18 37,606,810 (GRCm39) missense probably damaging 1.00
R3773:Pcdhb15 UTSW 18 37,608,943 (GRCm39) missense probably benign 0.00
R4432:Pcdhb15 UTSW 18 37,608,565 (GRCm39) missense probably damaging 1.00
R4433:Pcdhb15 UTSW 18 37,608,565 (GRCm39) missense probably damaging 1.00
R4583:Pcdhb15 UTSW 18 37,608,628 (GRCm39) missense possibly damaging 0.91
R4612:Pcdhb15 UTSW 18 37,608,648 (GRCm39) missense probably damaging 0.96
R4988:Pcdhb15 UTSW 18 37,608,855 (GRCm39) missense probably damaging 0.98
R5635:Pcdhb15 UTSW 18 37,606,823 (GRCm39) nonsense probably null
R5692:Pcdhb15 UTSW 18 37,607,502 (GRCm39) missense probably benign 0.01
R5742:Pcdhb15 UTSW 18 37,607,820 (GRCm39) missense probably damaging 0.99
R5913:Pcdhb15 UTSW 18 37,607,707 (GRCm39) missense probably benign 0.07
R6350:Pcdhb15 UTSW 18 37,608,414 (GRCm39) missense probably damaging 1.00
R6522:Pcdhb15 UTSW 18 37,607,314 (GRCm39) missense probably benign 0.35
R6676:Pcdhb15 UTSW 18 37,607,860 (GRCm39) missense possibly damaging 0.60
R6693:Pcdhb15 UTSW 18 37,607,394 (GRCm39) missense probably benign 0.01
R6905:Pcdhb15 UTSW 18 37,607,748 (GRCm39) missense possibly damaging 0.95
R7029:Pcdhb15 UTSW 18 37,608,621 (GRCm39) missense possibly damaging 0.85
R7335:Pcdhb15 UTSW 18 37,607,389 (GRCm39) missense probably damaging 1.00
R7529:Pcdhb15 UTSW 18 37,607,526 (GRCm39) nonsense probably null
R7718:Pcdhb15 UTSW 18 37,608,216 (GRCm39) missense probably damaging 1.00
R7782:Pcdhb15 UTSW 18 37,607,788 (GRCm39) missense possibly damaging 0.88
R7967:Pcdhb15 UTSW 18 37,607,902 (GRCm39) missense probably damaging 1.00
R8170:Pcdhb15 UTSW 18 37,608,637 (GRCm39) missense probably damaging 1.00
R8323:Pcdhb15 UTSW 18 37,608,715 (GRCm39) missense probably benign 0.18
R8725:Pcdhb15 UTSW 18 37,608,734 (GRCm39) missense probably damaging 0.99
R8820:Pcdhb15 UTSW 18 37,606,971 (GRCm39) missense probably benign 0.03
R9117:Pcdhb15 UTSW 18 37,608,090 (GRCm39) missense probably damaging 1.00
R9280:Pcdhb15 UTSW 18 37,607,794 (GRCm39) missense probably damaging 1.00
R9367:Pcdhb15 UTSW 18 37,607,971 (GRCm39) missense possibly damaging 0.95
R9424:Pcdhb15 UTSW 18 37,607,263 (GRCm39) missense
R9432:Pcdhb15 UTSW 18 37,608,683 (GRCm39) missense probably benign 0.04
R9498:Pcdhb15 UTSW 18 37,606,890 (GRCm39) nonsense probably null
R9544:Pcdhb15 UTSW 18 37,608,948 (GRCm39) missense probably benign
X0062:Pcdhb15 UTSW 18 37,609,068 (GRCm39) nonsense probably null
X0063:Pcdhb15 UTSW 18 37,608,137 (GRCm39) nonsense probably null
Posted On 2016-08-02