Incidental Mutation 'IGL02043:Pcdhb16'
ID 184815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb16
Ensembl Gene ENSMUSG00000047910
Gene Name protocadherin beta 16
Synonyms Pcdhb8, PcdhbP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02043
Quality Score
Status
Chromosome 18
Chromosomal Location 37610867-37616091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37612248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 403 (T403A)
Ref Sequence ENSEMBL: ENSMUSP00000056347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y03
Predicted Effect probably benign
Transcript: ENSMUST00000050034
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033

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
AA Change: T403A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: T403A

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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Pcdhb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Pcdhb16 APN 18 37,611,623 (GRCm39) missense possibly damaging 0.95
IGL00540:Pcdhb16 APN 18 37,612,851 (GRCm39) missense probably damaging 1.00
IGL01380:Pcdhb16 APN 18 37,612,498 (GRCm39) missense probably benign 0.30
IGL02103:Pcdhb16 APN 18 37,613,161 (GRCm39) missense probably benign 0.19
IGL02151:Pcdhb16 APN 18 37,611,411 (GRCm39) missense possibly damaging 0.80
IGL02619:Pcdhb16 APN 18 37,611,270 (GRCm39) nonsense probably null
IGL02832:Pcdhb16 APN 18 37,611,527 (GRCm39) missense probably damaging 1.00
IGL03190:Pcdhb16 APN 18 37,612,396 (GRCm39) missense probably damaging 1.00
IGL03274:Pcdhb16 APN 18 37,612,285 (GRCm39) missense probably benign 0.04
IGL03292:Pcdhb16 APN 18 37,613,437 (GRCm39) missense probably damaging 0.99
BB008:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
BB018:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
R0076:Pcdhb16 UTSW 18 37,611,412 (GRCm39) missense probably damaging 1.00
R0423:Pcdhb16 UTSW 18 37,613,422 (GRCm39) missense probably benign 0.00
R1191:Pcdhb16 UTSW 18 37,612,926 (GRCm39) missense probably damaging 1.00
R1254:Pcdhb16 UTSW 18 37,612,348 (GRCm39) missense possibly damaging 0.67
R1417:Pcdhb16 UTSW 18 37,611,180 (GRCm39) missense probably benign 0.00
R1468:Pcdhb16 UTSW 18 37,611,142 (GRCm39) missense probably damaging 1.00
R1468:Pcdhb16 UTSW 18 37,611,142 (GRCm39) missense probably damaging 1.00
R1517:Pcdhb16 UTSW 18 37,611,151 (GRCm39) missense probably benign 0.03
R1645:Pcdhb16 UTSW 18 37,612,423 (GRCm39) missense probably benign 0.05
R1706:Pcdhb16 UTSW 18 37,612,705 (GRCm39) missense probably benign 0.26
R1770:Pcdhb16 UTSW 18 37,612,233 (GRCm39) missense probably damaging 1.00
R1809:Pcdhb16 UTSW 18 37,611,441 (GRCm39) missense probably damaging 0.99
R1946:Pcdhb16 UTSW 18 37,611,952 (GRCm39) nonsense probably null
R1967:Pcdhb16 UTSW 18 37,612,715 (GRCm39) missense probably damaging 1.00
R2008:Pcdhb16 UTSW 18 37,611,316 (GRCm39) missense probably damaging 1.00
R2220:Pcdhb16 UTSW 18 37,612,020 (GRCm39) missense probably benign 0.16
R2432:Pcdhb16 UTSW 18 37,612,983 (GRCm39) missense probably damaging 0.98
R3121:Pcdhb16 UTSW 18 37,611,271 (GRCm39) missense possibly damaging 0.55
R3692:Pcdhb16 UTSW 18 37,611,340 (GRCm39) missense probably benign 0.28
R3766:Pcdhb16 UTSW 18 37,611,249 (GRCm39) nonsense probably null
R3891:Pcdhb16 UTSW 18 37,612,422 (GRCm39) missense probably benign 0.19
R3892:Pcdhb16 UTSW 18 37,612,422 (GRCm39) missense probably benign 0.19
R4551:Pcdhb16 UTSW 18 37,612,887 (GRCm39) missense probably damaging 1.00
R4614:Pcdhb16 UTSW 18 37,613,398 (GRCm39) missense probably benign 0.22
R4716:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R4908:Pcdhb16 UTSW 18 37,612,894 (GRCm39) splice site probably null
R5185:Pcdhb16 UTSW 18 37,613,142 (GRCm39) missense possibly damaging 0.96
R5225:Pcdhb16 UTSW 18 37,613,011 (GRCm39) missense probably benign 0.02
R5422:Pcdhb16 UTSW 18 37,612,920 (GRCm39) missense probably damaging 1.00
R5939:Pcdhb16 UTSW 18 37,611,117 (GRCm39) missense probably benign
R6149:Pcdhb16 UTSW 18 37,612,208 (GRCm39) missense possibly damaging 0.95
R6647:Pcdhb16 UTSW 18 37,612,225 (GRCm39) missense possibly damaging 0.57
R7080:Pcdhb16 UTSW 18 37,611,516 (GRCm39) nonsense probably null
R7354:Pcdhb16 UTSW 18 37,611,177 (GRCm39) missense possibly damaging 0.79
R7413:Pcdhb16 UTSW 18 37,611,975 (GRCm39) nonsense probably null
R7459:Pcdhb16 UTSW 18 37,612,606 (GRCm39) missense probably benign 0.26
R7655:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R7656:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R7827:Pcdhb16 UTSW 18 37,611,904 (GRCm39) missense possibly damaging 0.95
R7921:Pcdhb16 UTSW 18 37,611,298 (GRCm39) missense probably damaging 1.00
R7931:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
R8133:Pcdhb16 UTSW 18 37,611,185 (GRCm39) missense probably damaging 0.99
R8749:Pcdhb16 UTSW 18 37,612,392 (GRCm39) missense possibly damaging 0.66
R9468:Pcdhb16 UTSW 18 37,611,482 (GRCm39) missense probably damaging 0.99
R9540:Pcdhb16 UTSW 18 37,613,320 (GRCm39) missense probably benign 0.00
Z1176:Pcdhb16 UTSW 18 37,612,213 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07