Incidental Mutation 'R6282:Pcdhb3'
ID 508024
Institutional Source Beutler Lab
Gene Symbol Pcdhb3
Ensembl Gene ENSMUSG00000045498
Gene Name protocadherin beta 3
Synonyms PcdhbC
MMRRC Submission 044452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6282 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37433852-37437638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37434699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 222 (R222C)
Ref Sequence ENSEMBL: ENSMUSP00000059180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000051754
AA Change: R222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498
AA Change: R222C

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
CA 44 131 6.29e-1 SMART
CA 155 240 7.16e-21 SMART
CA 264 345 1.22e-23 SMART
CA 368 449 2.86e-20 SMART
CA 473 559 2.55e-26 SMART
CA 589 670 1.11e-8 SMART
Pfam:Cadherin_C_2 687 770 9.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056522
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599

DomainStartEndE-ValueType
Pfam:Cadherin_2 32 114 5.2e-33 PFAM
CA 157 242 1.74e-19 SMART
CA 266 347 5.99e-23 SMART
CA 370 451 1.16e-20 SMART
CA 475 561 5.94e-27 SMART
CA 591 672 2.03e-11 SMART
Pfam:Cadherin_C_2 688 771 3.5e-26 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 noncoding transcript
Transcript: ENSMUST00000193025
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,690,781 (GRCm39) L185Q possibly damaging Het
Abca6 A T 11: 110,099,650 (GRCm39) C966S probably damaging Het
Atp13a4 A T 16: 29,252,822 (GRCm39) I708N probably benign Het
Axin1 C G 17: 26,362,011 (GRCm39) D118E probably damaging Het
Bace2 A T 16: 97,216,297 (GRCm39) I297F probably damaging Het
Ccdc30 T A 4: 119,181,214 (GRCm39) D649V probably damaging Het
Cd180 G A 13: 102,830,265 (GRCm39) A20T possibly damaging Het
Cdk18 T C 1: 132,047,758 (GRCm39) D112G probably damaging Het
Cuedc1 A G 11: 88,074,228 (GRCm39) N254S probably damaging Het
Dnah7a T C 1: 53,542,760 (GRCm39) H2470R probably damaging Het
Drap1 G A 19: 5,474,464 (GRCm39) probably null Het
Fbxo5 T A 10: 5,751,216 (GRCm39) K257M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12790 A G 4: 101,824,713 (GRCm39) V185A possibly damaging Het
Gm7361 A G 5: 26,465,411 (GRCm39) N136S probably benign Het
Il10ra C A 9: 45,171,703 (GRCm39) C255F probably damaging Het
Insyn2b A G 11: 34,352,819 (GRCm39) D287G possibly damaging Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Ktn1 A T 14: 47,901,428 (GRCm39) N62I probably damaging Het
Ldb2 A G 5: 44,690,007 (GRCm39) L204P probably damaging Het
Map2k4 T C 11: 65,597,842 (GRCm39) T90A possibly damaging Het
Mettl3 A T 14: 52,535,428 (GRCm39) D287E probably benign Het
Mier2 A G 10: 79,380,576 (GRCm39) F278S probably damaging Het
Mis18bp1 A G 12: 65,195,937 (GRCm39) M609T probably benign Het
Myo1d A T 11: 80,448,338 (GRCm39) V929D probably damaging Het
Naprt A T 15: 75,763,828 (GRCm39) M364K probably benign Het
Nod2 T A 8: 89,397,088 (GRCm39) C833S probably benign Het
Nrip3 C T 7: 109,362,686 (GRCm39) probably null Het
Ntsr2 A G 12: 16,708,426 (GRCm39) Y320C probably damaging Het
Or14j8 G A 17: 38,263,315 (GRCm39) S200F possibly damaging Het
Or4p7 C A 2: 88,221,877 (GRCm39) C95* probably null Het
Or51h1 G A 7: 102,308,854 (GRCm39) M275I probably benign Het
Osbpl3 A T 6: 50,325,063 (GRCm39) probably null Het
Pik3cd G T 4: 149,744,200 (GRCm39) R184S probably benign Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rad50 A T 11: 53,560,597 (GRCm39) probably null Het
Rad51ap2 A T 12: 11,507,560 (GRCm39) H494L probably benign Het
Rbm25 T C 12: 83,722,863 (GRCm39) M762T probably damaging Het
Sars1 G T 3: 108,335,590 (GRCm39) S338* probably null Het
Usp35 T C 7: 96,975,155 (GRCm39) E6G probably damaging Het
Vash2 T C 1: 190,692,422 (GRCm39) Y251C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20 T A 12: 110,763,443 (GRCm39) probably benign Het
Wfdc1 G A 8: 120,406,146 (GRCm39) C87Y probably damaging Het
Zfp985 T A 4: 147,667,805 (GRCm39) H224Q probably benign Het
Other mutations in Pcdhb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Pcdhb3 APN 18 37,436,001 (GRCm39) missense probably benign 0.12
IGL01568:Pcdhb3 APN 18 37,435,054 (GRCm39) missense possibly damaging 0.74
IGL02541:Pcdhb3 APN 18 37,435,198 (GRCm39) missense probably damaging 0.99
IGL02852:Pcdhb3 APN 18 37,435,150 (GRCm39) missense probably damaging 1.00
IGL03140:Pcdhb3 APN 18 37,434,272 (GRCm39) missense probably benign 0.00
IGL03336:Pcdhb3 APN 18 37,436,014 (GRCm39) missense possibly damaging 0.86
R0380:Pcdhb3 UTSW 18 37,435,210 (GRCm39) missense possibly damaging 0.48
R1558:Pcdhb3 UTSW 18 37,434,634 (GRCm39) missense probably damaging 1.00
R1713:Pcdhb3 UTSW 18 37,436,375 (GRCm39) missense probably benign
R1728:Pcdhb3 UTSW 18 37,434,931 (GRCm39) missense probably damaging 1.00
R1784:Pcdhb3 UTSW 18 37,434,931 (GRCm39) missense probably damaging 1.00
R1838:Pcdhb3 UTSW 18 37,434,370 (GRCm39) missense probably benign 0.00
R2079:Pcdhb3 UTSW 18 37,436,362 (GRCm39) missense possibly damaging 0.93
R2164:Pcdhb3 UTSW 18 37,435,239 (GRCm39) missense possibly damaging 0.78
R2513:Pcdhb3 UTSW 18 37,434,294 (GRCm39) missense probably benign 0.17
R2513:Pcdhb3 UTSW 18 37,434,292 (GRCm39) nonsense probably null
R2513:Pcdhb3 UTSW 18 37,434,293 (GRCm39) missense probably damaging 1.00
R3080:Pcdhb3 UTSW 18 37,434,535 (GRCm39) missense probably damaging 1.00
R3755:Pcdhb3 UTSW 18 37,435,878 (GRCm39) missense probably damaging 0.97
R3756:Pcdhb3 UTSW 18 37,435,878 (GRCm39) missense probably damaging 0.97
R3862:Pcdhb3 UTSW 18 37,436,329 (GRCm39) missense probably damaging 1.00
R3863:Pcdhb3 UTSW 18 37,436,329 (GRCm39) missense probably damaging 1.00
R3864:Pcdhb3 UTSW 18 37,436,329 (GRCm39) missense probably damaging 1.00
R4114:Pcdhb3 UTSW 18 37,435,093 (GRCm39) missense probably benign 0.03
R4895:Pcdhb3 UTSW 18 37,434,759 (GRCm39) missense probably damaging 1.00
R4917:Pcdhb3 UTSW 18 37,435,452 (GRCm39) missense probably damaging 0.99
R5508:Pcdhb3 UTSW 18 37,434,179 (GRCm39) missense probably damaging 1.00
R5779:Pcdhb3 UTSW 18 37,434,520 (GRCm39) missense probably benign 0.26
R5848:Pcdhb3 UTSW 18 37,434,700 (GRCm39) missense probably benign 0.39
R5991:Pcdhb3 UTSW 18 37,434,561 (GRCm39) missense probably benign 0.07
R6014:Pcdhb3 UTSW 18 37,435,706 (GRCm39) missense probably damaging 1.00
R6111:Pcdhb3 UTSW 18 37,435,242 (GRCm39) missense probably benign 0.00
R6339:Pcdhb3 UTSW 18 37,433,998 (GRCm39) intron probably benign
R6425:Pcdhb3 UTSW 18 37,435,528 (GRCm39) missense possibly damaging 0.64
R6860:Pcdhb3 UTSW 18 37,434,763 (GRCm39) missense probably benign 0.01
R6896:Pcdhb3 UTSW 18 37,434,265 (GRCm39) missense probably damaging 1.00
R6946:Pcdhb3 UTSW 18 37,435,672 (GRCm39) missense probably damaging 1.00
R7110:Pcdhb3 UTSW 18 37,435,975 (GRCm39) missense possibly damaging 0.87
R7236:Pcdhb3 UTSW 18 37,434,505 (GRCm39) missense probably damaging 1.00
R7402:Pcdhb3 UTSW 18 37,434,657 (GRCm39) missense probably benign
R7469:Pcdhb3 UTSW 18 37,434,388 (GRCm39) missense probably benign 0.02
R7723:Pcdhb3 UTSW 18 37,435,565 (GRCm39) missense probably damaging 0.98
R7738:Pcdhb3 UTSW 18 37,436,012 (GRCm39) missense probably benign 0.00
R7800:Pcdhb3 UTSW 18 37,434,974 (GRCm39) missense probably benign 0.00
R7817:Pcdhb3 UTSW 18 37,435,982 (GRCm39) missense probably benign
R8157:Pcdhb3 UTSW 18 37,436,292 (GRCm39) missense probably damaging 1.00
R9264:Pcdhb3 UTSW 18 37,435,166 (GRCm39) missense probably benign 0.03
R9482:Pcdhb3 UTSW 18 37,434,736 (GRCm39) missense probably damaging 1.00
R9488:Pcdhb3 UTSW 18 37,435,416 (GRCm39) missense possibly damaging 0.62
X0026:Pcdhb3 UTSW 18 37,434,817 (GRCm39) missense probably damaging 0.96
X0066:Pcdhb3 UTSW 18 37,435,392 (GRCm39) nonsense probably null
Z1177:Pcdhb3 UTSW 18 37,435,089 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAATGCCGTGGACCTGGATG -3'
(R):5'- CTGGAGTTCAGTCGAAAAGTTTC -3'

Sequencing Primer
(F):5'- TGTGGGAAGAAACGGACTCC -3'
(R):5'- TCGAGAATTTCTTCAGAAGCATG -3'
Posted On 2018-03-15