Incidental Mutation 'R7459:Pcdhb16'
ID 578361
Institutional Source Beutler Lab
Gene Symbol Pcdhb16
Ensembl Gene ENSMUSG00000047910
Gene Name protocadherin beta 16
Synonyms Pcdhb8, PcdhbP
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37610867-37616091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37612606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 522 (Y522F)
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: Y522F

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: Y522F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging 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
IGL02043:Pcdhb16 APN 18 37,612,248 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TGTTCATCCGTGAGAACAACAGC -3'
(R):5'- CAGGCATTCTGTCCAGAGTC -3'

Sequencing Primer
(F):5'- GTGAGAACAACAGCCCTGC -3'
(R):5'- ACCTTGGTGACCAGGTATCC -3'
Posted On 2019-10-07