Incidental Mutation 'R6905:Pcdhb15'
ID 538755
Institutional Source Beutler Lab
Gene Symbol Pcdhb15
Ensembl Gene ENSMUSG00000047033
Gene Name protocadherin beta 15
Synonyms Pcdhb7, PcdhbO
MMRRC Submission 044997-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6905 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37606599-37609393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37607748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 327 (L327F)
Ref Sequence ENSEMBL: ENSMUSP00000059598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y04
Predicted Effect possibly damaging
Transcript: ENSMUST00000050034
AA Change: L327F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: L327F

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
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

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
Meta Mutation Damage Score 0.5880 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
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. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik G T 1: 151,856,189 (GRCm39) N59K probably damaging Het
Abi3bp A G 16: 56,394,880 (GRCm39) D196G probably damaging Het
Ankrd44 A G 1: 54,831,653 (GRCm39) F50S probably damaging Het
Arid4a C T 12: 71,108,318 (GRCm39) A41V probably benign Het
Cdk11b A T 4: 155,726,065 (GRCm39) probably benign Het
Chrm5 C A 2: 112,309,901 (GRCm39) C405F probably benign Het
Cimip2a A G 2: 25,110,491 (GRCm39) I100V probably benign Het
Col6a4 A T 9: 105,937,517 (GRCm39) probably null Het
Copb1 A C 7: 113,853,125 (GRCm39) I24S probably benign Het
Ctsh A T 9: 89,944,819 (GRCm39) K83N probably damaging Het
Dgkd A G 1: 87,863,097 (GRCm39) E48G probably damaging Het
Dis3l2 A G 1: 86,972,561 (GRCm39) T657A probably benign Het
Flrt1 T A 19: 7,072,757 (GRCm39) K597* probably null Het
Ifit1bl2 T C 19: 34,596,990 (GRCm39) S209G possibly damaging Het
Ifrd2 T C 9: 107,465,089 (GRCm39) M1T probably null Het
Ighv8-12 T C 12: 115,611,705 (GRCm39) Y73C probably benign Het
Klhl21 C A 4: 152,094,184 (GRCm39) A262E probably benign Het
L3mbtl4 A T 17: 69,084,883 (GRCm39) Y598F probably benign Het
Lad1 A G 1: 135,755,618 (GRCm39) K298R probably benign Het
Map2k2 A G 10: 80,944,701 (GRCm39) D71G probably damaging Het
Megf8 T A 7: 25,037,357 (GRCm39) H752Q probably benign Het
Mms22l A T 4: 24,503,107 (GRCm39) M200L probably benign Het
Mup5 C A 4: 61,751,340 (GRCm39) D103Y possibly damaging Het
Nes C T 3: 87,885,985 (GRCm39) P1371S probably damaging Het
Or4c10b A T 2: 89,712,052 (GRCm39) D294V probably benign Het
Or4f14c A T 2: 111,940,703 (GRCm39) M298K probably damaging Het
Or52z14 A T 7: 103,253,574 (GRCm39) T238S probably benign Het
Osbpl3 T C 6: 50,328,862 (GRCm39) I114V probably damaging Het
Pank3 T C 11: 35,667,239 (GRCm39) Y119H probably benign Het
Pnpla8 T C 12: 44,330,336 (GRCm39) V78A probably damaging Het
Rbm14 A G 19: 4,853,264 (GRCm39) probably benign Het
Rev3l G A 10: 39,693,323 (GRCm39) V468M probably benign Het
Ripk1 A G 13: 34,211,973 (GRCm39) I428V probably benign Het
Rps5 T C 7: 12,659,785 (GRCm39) V147A probably damaging Het
Rps6ka2 T A 17: 7,495,340 (GRCm39) I9N probably damaging Het
Samd9l A T 6: 3,375,387 (GRCm39) F625I probably damaging Het
Sh3bp1 A G 15: 78,789,230 (GRCm39) D196G probably benign Het
Slc66a1 A G 4: 139,033,752 (GRCm39) probably null Het
Smg7 A T 1: 152,725,757 (GRCm39) probably null Het
Stap1 G A 5: 86,238,781 (GRCm39) E150K possibly damaging Het
Ticrr T C 7: 79,315,598 (GRCm39) I284T probably benign Het
Tm4sf1 T C 3: 57,202,330 (GRCm39) probably benign Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Trav7d-4 G T 14: 53,007,770 (GRCm39) A88S possibly damaging Het
Vwde T C 6: 13,205,926 (GRCm39) E207G probably damaging Het
Other mutations in Pcdhb15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Pcdhb15 APN 18 37,608,207 (GRCm39) missense probably damaging 1.00
IGL01536:Pcdhb15 APN 18 37,608,046 (GRCm39) missense probably benign 0.01
IGL01664:Pcdhb15 APN 18 37,607,314 (GRCm39) missense probably benign 0.35
IGL02001:Pcdhb15 APN 18 37,607,091 (GRCm39) missense probably benign 0.01
IGL02161:Pcdhb15 APN 18 37,608,555 (GRCm39) missense possibly damaging 0.78
IGL02205:Pcdhb15 APN 18 37,607,010 (GRCm39) missense probably damaging 0.99
IGL02748:Pcdhb15 APN 18 37,608,273 (GRCm39) missense probably damaging 0.98
IGL02828:Pcdhb15 APN 18 37,606,903 (GRCm39) missense probably damaging 0.97
IGL02974:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
IGL03119:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
IGL03136:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
IGL03150:Pcdhb15 APN 18 37,608,067 (GRCm39) missense probably damaging 1.00
PIT1430001:Pcdhb15 UTSW 18 37,608,724 (GRCm39) missense probably benign 0.15
R0266:Pcdhb15 UTSW 18 37,608,329 (GRCm39) missense probably damaging 1.00
R0288:Pcdhb15 UTSW 18 37,608,451 (GRCm39) missense probably damaging 1.00
R0399:Pcdhb15 UTSW 18 37,607,221 (GRCm39) missense possibly damaging 0.56
R0400:Pcdhb15 UTSW 18 37,608,948 (GRCm39) missense probably benign
R0554:Pcdhb15 UTSW 18 37,607,572 (GRCm39) missense probably damaging 1.00
R0637:Pcdhb15 UTSW 18 37,608,619 (GRCm39) missense probably damaging 1.00
R0714:Pcdhb15 UTSW 18 37,607,674 (GRCm39) missense probably damaging 0.98
R1118:Pcdhb15 UTSW 18 37,606,815 (GRCm39) missense probably benign 0.01
R1423:Pcdhb15 UTSW 18 37,606,975 (GRCm39) missense probably damaging 0.97
R1672:Pcdhb15 UTSW 18 37,607,713 (GRCm39) missense probably damaging 1.00
R1681:Pcdhb15 UTSW 18 37,606,866 (GRCm39) missense probably damaging 1.00
R1779:Pcdhb15 UTSW 18 37,609,084 (GRCm39) missense possibly damaging 0.95
R2206:Pcdhb15 UTSW 18 37,608,075 (GRCm39) missense probably benign 0.05
R2207:Pcdhb15 UTSW 18 37,608,075 (GRCm39) missense probably benign 0.05
R2274:Pcdhb15 UTSW 18 37,608,496 (GRCm39) missense probably damaging 1.00
R3406:Pcdhb15 UTSW 18 37,608,442 (GRCm39) missense probably benign 0.41
R3407:Pcdhb15 UTSW 18 37,607,442 (GRCm39) missense possibly damaging 0.80
R3417:Pcdhb15 UTSW 18 37,608,216 (GRCm39) missense probably damaging 1.00
R3752:Pcdhb15 UTSW 18 37,606,810 (GRCm39) missense probably damaging 1.00
R3773:Pcdhb15 UTSW 18 37,608,943 (GRCm39) missense probably benign 0.00
R4432:Pcdhb15 UTSW 18 37,608,565 (GRCm39) missense probably damaging 1.00
R4433:Pcdhb15 UTSW 18 37,608,565 (GRCm39) missense probably damaging 1.00
R4583:Pcdhb15 UTSW 18 37,608,628 (GRCm39) missense possibly damaging 0.91
R4612:Pcdhb15 UTSW 18 37,608,648 (GRCm39) missense probably damaging 0.96
R4988:Pcdhb15 UTSW 18 37,608,855 (GRCm39) missense probably damaging 0.98
R5635:Pcdhb15 UTSW 18 37,606,823 (GRCm39) nonsense probably null
R5692:Pcdhb15 UTSW 18 37,607,502 (GRCm39) missense probably benign 0.01
R5742:Pcdhb15 UTSW 18 37,607,820 (GRCm39) missense probably damaging 0.99
R5913:Pcdhb15 UTSW 18 37,607,707 (GRCm39) missense probably benign 0.07
R6350:Pcdhb15 UTSW 18 37,608,414 (GRCm39) missense probably damaging 1.00
R6522:Pcdhb15 UTSW 18 37,607,314 (GRCm39) missense probably benign 0.35
R6676:Pcdhb15 UTSW 18 37,607,860 (GRCm39) missense possibly damaging 0.60
R6693:Pcdhb15 UTSW 18 37,607,394 (GRCm39) missense probably benign 0.01
R7029:Pcdhb15 UTSW 18 37,608,621 (GRCm39) missense possibly damaging 0.85
R7335:Pcdhb15 UTSW 18 37,607,389 (GRCm39) missense probably damaging 1.00
R7529:Pcdhb15 UTSW 18 37,607,526 (GRCm39) nonsense probably null
R7718:Pcdhb15 UTSW 18 37,608,216 (GRCm39) missense probably damaging 1.00
R7782:Pcdhb15 UTSW 18 37,607,788 (GRCm39) missense possibly damaging 0.88
R7967:Pcdhb15 UTSW 18 37,607,902 (GRCm39) missense probably damaging 1.00
R8170:Pcdhb15 UTSW 18 37,608,637 (GRCm39) missense probably damaging 1.00
R8323:Pcdhb15 UTSW 18 37,608,715 (GRCm39) missense probably benign 0.18
R8725:Pcdhb15 UTSW 18 37,608,734 (GRCm39) missense probably damaging 0.99
R8820:Pcdhb15 UTSW 18 37,606,971 (GRCm39) missense probably benign 0.03
R9117:Pcdhb15 UTSW 18 37,608,090 (GRCm39) missense probably damaging 1.00
R9280:Pcdhb15 UTSW 18 37,607,794 (GRCm39) missense probably damaging 1.00
R9367:Pcdhb15 UTSW 18 37,607,971 (GRCm39) missense possibly damaging 0.95
R9424:Pcdhb15 UTSW 18 37,607,263 (GRCm39) missense
R9432:Pcdhb15 UTSW 18 37,608,683 (GRCm39) missense probably benign 0.04
R9498:Pcdhb15 UTSW 18 37,606,890 (GRCm39) nonsense probably null
R9544:Pcdhb15 UTSW 18 37,608,948 (GRCm39) missense probably benign
X0062:Pcdhb15 UTSW 18 37,609,068 (GRCm39) nonsense probably null
X0063:Pcdhb15 UTSW 18 37,608,137 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCCAGGGACTTAGACACAG -3'
(R):5'- TTCCACAGATGGCTTCAGGAC -3'

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