Incidental Mutation 'R4060:Pcdhb20'
ID 315836
Institutional Source Beutler Lab
Gene Symbol Pcdhb20
Ensembl Gene ENSMUSG00000046191
Gene Name protocadherin beta 20
Synonyms Pcdhb14, PcdhbT
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R4060 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37637332-37640713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37639217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 581 (E581G)
Ref Sequence ENSEMBL: ENSMUSP00000137038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000052179
AA Change: E581G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: E581G

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 8.3e-36 PFAM
low complexity region 136 148 N/A INTRINSIC
CA 155 240 1.41e-19 SMART
CA 264 345 2.91e-21 SMART
CA 368 449 1.12e-22 SMART
CA 473 559 3.41e-27 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 769 7.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059571
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 45 131 4.8e-1 SMART
CA 155 240 6.58e-20 SMART
CA 264 345 1.03e-21 SMART
CA 368 449 4.21e-18 SMART
CA 473 559 3.36e-26 SMART
CA 589 670 6.69e-12 SMART
Pfam:Cadherin_C_2 686 769 1.9e-25 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
Meta Mutation Damage Score 0.5756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Creb3l2 T C 6: 37,311,484 (GRCm39) H435R probably benign Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fam162a C T 16: 35,864,451 (GRCm39) R38K probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Foxo1 A G 3: 52,252,583 (GRCm39) R249G probably damaging Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Igfbp1 C A 11: 7,148,091 (GRCm39) P45T probably damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Pcdhb20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Pcdhb20 APN 18 37,637,738 (GRCm39) missense possibly damaging 0.87
IGL01373:Pcdhb20 APN 18 37,639,621 (GRCm39) missense probably benign 0.10
IGL01556:Pcdhb20 APN 18 37,637,852 (GRCm39) missense possibly damaging 0.88
IGL01621:Pcdhb20 APN 18 37,637,860 (GRCm39) missense possibly damaging 0.49
IGL01768:Pcdhb20 APN 18 37,639,768 (GRCm39) missense possibly damaging 0.80
IGL01859:Pcdhb20 APN 18 37,637,616 (GRCm39) missense probably damaging 0.98
IGL02492:Pcdhb20 APN 18 37,639,453 (GRCm39) missense probably benign 0.43
IGL03057:Pcdhb20 APN 18 37,637,851 (GRCm39) missense possibly damaging 0.74
IGL02991:Pcdhb20 UTSW 18 37,639,264 (GRCm39) missense probably damaging 1.00
R0799:Pcdhb20 UTSW 18 37,638,938 (GRCm39) missense probably damaging 1.00
R1465:Pcdhb20 UTSW 18 37,637,750 (GRCm39) missense probably damaging 0.99
R1465:Pcdhb20 UTSW 18 37,637,750 (GRCm39) missense probably damaging 0.99
R2012:Pcdhb20 UTSW 18 37,638,127 (GRCm39) missense probably damaging 0.99
R2079:Pcdhb20 UTSW 18 37,638,224 (GRCm39) missense probably benign 0.07
R2350:Pcdhb20 UTSW 18 37,637,563 (GRCm39) missense probably benign 0.01
R2363:Pcdhb20 UTSW 18 37,638,725 (GRCm39) missense probably damaging 1.00
R2364:Pcdhb20 UTSW 18 37,638,991 (GRCm39) missense probably damaging 1.00
R2870:Pcdhb20 UTSW 18 37,638,833 (GRCm39) missense possibly damaging 0.82
R2870:Pcdhb20 UTSW 18 37,638,833 (GRCm39) missense possibly damaging 0.82
R4609:Pcdhb20 UTSW 18 37,638,849 (GRCm39) missense probably benign 0.02
R4750:Pcdhb20 UTSW 18 37,639,184 (GRCm39) missense possibly damaging 0.48
R4897:Pcdhb20 UTSW 18 37,639,298 (GRCm39) missense possibly damaging 0.70
R4970:Pcdhb20 UTSW 18 37,639,824 (GRCm39) missense probably benign 0.00
R5098:Pcdhb20 UTSW 18 37,637,858 (GRCm39) missense probably damaging 1.00
R5616:Pcdhb20 UTSW 18 37,637,585 (GRCm39) missense probably damaging 0.97
R5890:Pcdhb20 UTSW 18 37,638,286 (GRCm39) missense probably benign 0.00
R6225:Pcdhb20 UTSW 18 37,638,047 (GRCm39) missense probably damaging 1.00
R6248:Pcdhb20 UTSW 18 37,639,285 (GRCm39) missense probably damaging 0.99
R6419:Pcdhb20 UTSW 18 37,638,608 (GRCm39) missense probably damaging 1.00
R6814:Pcdhb20 UTSW 18 37,639,218 (GRCm39) missense probably benign 0.22
R6821:Pcdhb20 UTSW 18 37,639,175 (GRCm39) missense probably damaging 1.00
R6824:Pcdhb20 UTSW 18 37,638,752 (GRCm39) missense probably benign 0.06
R6872:Pcdhb20 UTSW 18 37,639,218 (GRCm39) missense probably benign 0.22
R7040:Pcdhb20 UTSW 18 37,637,770 (GRCm39) missense probably benign 0.00
R7145:Pcdhb20 UTSW 18 37,638,142 (GRCm39) missense probably damaging 1.00
R7165:Pcdhb20 UTSW 18 37,638,123 (GRCm39) missense probably damaging 1.00
R7215:Pcdhb20 UTSW 18 37,638,439 (GRCm39) missense probably benign 0.24
R7265:Pcdhb20 UTSW 18 37,638,616 (GRCm39) missense possibly damaging 0.95
R7372:Pcdhb20 UTSW 18 37,639,840 (GRCm39) missense probably benign 0.00
R7402:Pcdhb20 UTSW 18 37,638,005 (GRCm39) missense probably benign 0.05
R7718:Pcdhb20 UTSW 18 37,638,704 (GRCm39) missense probably damaging 1.00
R7794:Pcdhb20 UTSW 18 37,637,485 (GRCm39) missense probably benign 0.00
R7842:Pcdhb20 UTSW 18 37,638,112 (GRCm39) missense possibly damaging 0.94
R8084:Pcdhb20 UTSW 18 37,639,226 (GRCm39) missense possibly damaging 0.95
R8133:Pcdhb20 UTSW 18 37,639,663 (GRCm39) nonsense probably null
R8422:Pcdhb20 UTSW 18 37,637,849 (GRCm39) missense probably damaging 1.00
R8477:Pcdhb20 UTSW 18 37,638,307 (GRCm39) missense probably benign 0.12
R8727:Pcdhb20 UTSW 18 37,638,437 (GRCm39) missense probably damaging 1.00
R8733:Pcdhb20 UTSW 18 37,638,437 (GRCm39) missense probably damaging 1.00
R8951:Pcdhb20 UTSW 18 37,639,146 (GRCm39) missense probably damaging 1.00
R9196:Pcdhb20 UTSW 18 37,638,024 (GRCm39) missense probably benign 0.00
R9384:Pcdhb20 UTSW 18 37,638,024 (GRCm39) missense probably benign 0.00
R9388:Pcdhb20 UTSW 18 37,638,853 (GRCm39) missense probably benign 0.02
R9462:Pcdhb20 UTSW 18 37,639,799 (GRCm39) missense probably benign 0.30
R9667:Pcdhb20 UTSW 18 37,637,839 (GRCm39) missense probably benign 0.00
Z1177:Pcdhb20 UTSW 18 37,637,641 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGACAACGGGCAGCTATTTG -3'
(R):5'- TGACTAGCAGTACCAGCCTGTG -3'

Sequencing Primer
(F):5'- TATGAGGTCCTGCAGGCCTTC -3'
(R):5'- TGCTTGGGCACATCGCG -3'
Posted On 2015-05-15