Incidental Mutation 'R6896:Pcdhb3'
ID 538356
Institutional Source Beutler Lab
Gene Symbol Pcdhb3
Ensembl Gene ENSMUSG00000045498
Gene Name protocadherin beta 3
Synonyms PcdhbC
MMRRC Submission 044990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6896 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37433852-37437638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37434265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 77 (L77P)
Ref Sequence ENSEMBL: ENSMUSP00000059180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]
AlphaFold Q91XZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000051754
AA Change: L77P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498
AA Change: L77P

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 probably benign
Transcript: ENSMUST00000193137
SMART Domains Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

DomainStartEndE-ValueType
CA 13 94 1.8e-22 SMART
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: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (49/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,660,298 (GRCm39) L454P probably damaging Het
Acadm T C 3: 153,641,957 (GRCm39) I192V probably damaging Het
Acadsb T A 7: 131,045,375 (GRCm39) Y436N probably benign Het
Ache G A 5: 137,289,996 (GRCm39) V442M probably damaging Het
Adam39 A T 8: 41,277,975 (GRCm39) N122I possibly damaging Het
Akap6 A T 12: 52,934,277 (GRCm39) I590F probably benign Het
Akap8 T C 17: 32,536,305 (GRCm39) N36S probably benign Het
Asap2 T C 12: 21,315,526 (GRCm39) S933P probably damaging Het
C3 C T 17: 57,527,864 (GRCm39) probably null Het
Cdon T A 9: 35,363,402 (GRCm39) M1K probably null Het
Cemip T A 7: 83,647,784 (GRCm39) I99F probably damaging Het
Cfap251 A G 5: 123,416,421 (GRCm39) T565A possibly damaging Het
Cfap58 T G 19: 47,932,626 (GRCm39) L130R probably damaging Het
Clca3a2 T C 3: 144,514,462 (GRCm39) D415G probably damaging Het
Coch A G 12: 51,649,652 (GRCm39) D321G possibly damaging Het
Dync2i1 C T 12: 116,193,291 (GRCm39) G554R possibly damaging Het
Efcab11 A G 12: 99,849,674 (GRCm39) probably benign Het
Ermap G T 4: 119,044,328 (GRCm39) S156* probably null Het
Fap G T 2: 62,334,944 (GRCm39) Y620* probably null Het
Galntl5 T C 5: 25,394,947 (GRCm39) probably null Het
Il21r C A 7: 125,226,128 (GRCm39) H76N probably damaging Het
Itpr1 T G 6: 108,458,355 (GRCm39) Y2041D probably damaging Het
Megf8 T A 7: 25,029,357 (GRCm39) N300K probably benign Het
Muc2 G A 7: 141,306,432 (GRCm39) V285I possibly damaging Het
Myh15 A T 16: 48,933,434 (GRCm39) Q623L probably benign Het
Myh7b T C 2: 155,464,488 (GRCm39) probably null Het
Naaladl1 T A 19: 6,159,335 (GRCm39) probably null Het
Nlrp9b T G 7: 19,757,170 (GRCm39) F136V probably damaging Het
Oprd1 A T 4: 131,844,612 (GRCm39) M132K probably damaging Het
Or10a3b T C 7: 108,444,750 (GRCm39) T156A probably benign Het
Or4s2b A G 2: 88,508,340 (GRCm39) N47S probably damaging Het
Or6c70 A T 10: 129,710,623 (GRCm39) M1K probably null Het
Or9g4 A G 2: 85,505,277 (GRCm39) Y73H probably damaging Het
Patj T A 4: 98,314,287 (GRCm39) V369D possibly damaging Het
Pcf11 T C 7: 92,298,759 (GRCm39) D1259G probably damaging Het
Pdcl A T 2: 37,242,191 (GRCm39) H186Q probably damaging Het
Pdzd9 A T 7: 120,262,095 (GRCm39) *77R probably null Het
Reln C T 5: 22,104,177 (GRCm39) E3265K probably benign Het
Smg8 T C 11: 86,968,787 (GRCm39) T990A possibly damaging Het
Smok2a C T 17: 13,444,758 (GRCm39) H112Y probably benign Het
Spatc1l G A 10: 76,405,242 (GRCm39) R208H probably damaging Het
Taf7 T C 18: 37,775,733 (GRCm39) D278G possibly damaging Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn2r78 C T 7: 86,571,558 (GRCm39) T456I probably benign Het
Vwf T C 6: 125,543,157 (GRCm39) S148P probably damaging Het
Xpot A C 10: 121,449,390 (GRCm39) probably null Het
Zdbf2 A T 1: 63,348,031 (GRCm39) R2137W probably damaging Het
Zfp462 T A 4: 55,009,544 (GRCm39) N503K possibly damaging Het
Zfp641 T A 15: 98,191,684 (GRCm39) M1L 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
R6282:Pcdhb3 UTSW 18 37,434,699 (GRCm39) missense probably damaging 1.00
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
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'- GGCCAGAGAGGAAAGCTTTC -3'
(R):5'- CATTTTCAAAGAACTCCGGGG -3'

Sequencing Primer
(F):5'- CCAGAGAGGAAAGCTTTCTTAAAC -3'
(R):5'- CCGGGGCATGGTCATTTACATC -3'
Posted On 2018-11-06