Incidental Mutation 'R7782:Pcdhb15'
ID 599346
Institutional Source Beutler Lab
Gene Symbol Pcdhb15
Ensembl Gene ENSMUSG00000047033
Gene Name protocadherin beta 15
Synonyms Pcdhb7, PcdhbO
MMRRC Submission 045838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7782 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37606599-37609393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37607788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 340 (V340E)
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: V340E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: V340E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTATGTGTGT GTGTGTGT 11: 43,478,239 (GRCm39) probably null Het
Adamts16 A G 13: 70,984,265 (GRCm39) S133P probably damaging Het
Adamts17 T C 7: 66,774,802 (GRCm39) W1001R probably damaging Het
Aox4 T A 1: 58,270,251 (GRCm39) probably null Het
B4galnt4 C T 7: 140,644,988 (GRCm39) P221S probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
BC034090 T C 1: 155,108,410 (GRCm39) probably benign Het
Best2 T A 8: 85,736,143 (GRCm39) D312V probably damaging Het
Bod1l A T 5: 41,975,286 (GRCm39) D2009E probably benign Het
Ccdc158 A C 5: 92,793,373 (GRCm39) S672A probably benign Het
Ccdc43 A T 11: 102,588,443 (GRCm39) L31Q probably damaging Het
Cdcp3 G A 7: 130,904,466 (GRCm39) probably null Het
Chaf1a T G 17: 56,369,291 (GRCm39) H507Q probably benign Het
Clptm1l A G 13: 73,752,439 (GRCm39) Y28C probably damaging Het
Cp G A 3: 20,029,223 (GRCm39) probably null Het
Crocc C T 4: 140,752,597 (GRCm39) A1432T probably benign Het
Crybg2 A G 4: 133,801,137 (GRCm39) T457A probably benign Het
Csnk2a1-ps3 C T 1: 156,352,552 (GRCm39) T251I probably damaging Het
Dennd4a A G 9: 64,814,202 (GRCm39) D1473G probably damaging Het
Diaph3 A G 14: 87,274,940 (GRCm39) F172S probably benign Het
Dnajc5b A G 3: 19,629,006 (GRCm39) N100S probably benign Het
Dusp13b G A 14: 21,791,404 (GRCm39) T16I possibly damaging Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Fat1 A G 8: 45,403,948 (GRCm39) Y233C probably damaging Het
Fcgbp T A 7: 27,784,460 (GRCm39) Y173* probably null Het
Fign T A 2: 63,809,506 (GRCm39) D588V probably damaging Het
Fignl2 C T 15: 100,951,188 (GRCm39) V365M unknown Het
Fnip2 A C 3: 79,415,430 (GRCm39) Y203D probably benign Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gfral C A 9: 76,100,572 (GRCm39) V289L probably benign Het
H2bc21 T A 3: 96,128,487 (GRCm39) probably null Het
Heatr5b G T 17: 79,103,370 (GRCm39) T1161K probably damaging Het
Hectd4 A T 5: 121,443,784 (GRCm39) I1335F possibly damaging Het
Htt T A 5: 35,040,336 (GRCm39) V2166D probably benign Het
Ipo5 G C 14: 121,170,537 (GRCm39) K436N possibly damaging Het
Iqca1l A G 5: 24,749,224 (GRCm39) L758P probably damaging Het
Itga6 A G 2: 71,671,879 (GRCm39) E794G probably damaging Het
Itga9 G A 9: 118,672,712 (GRCm39) C148Y Het
Kcnip2 A C 19: 45,785,524 (GRCm39) probably null Het
Kcnk6 T C 7: 28,925,269 (GRCm39) T116A possibly damaging Het
Kctd21 A G 7: 96,997,297 (GRCm39) I257V probably benign Het
Kif19a G A 11: 114,672,748 (GRCm39) R299Q probably damaging Het
Kifc2 G A 15: 76,548,328 (GRCm39) G391R probably benign Het
Klrg2 A G 6: 38,604,562 (GRCm39) V381A possibly damaging Het
Mob1b A G 5: 88,897,542 (GRCm39) probably null Het
Or13p8 T C 4: 118,584,106 (GRCm39) Y221H probably damaging Het
Or6c69 T G 10: 129,747,392 (GRCm39) S252R probably damaging Het
Or6c75 T C 10: 129,337,020 (GRCm39) V81A probably benign Het
Or7c70 T C 10: 78,683,447 (GRCm39) I101V probably benign Het
Oxsm C A 14: 16,240,925 (GRCm38) A375S possibly damaging Het
Pcdha3 T C 18: 37,081,193 (GRCm39) V645A probably damaging Het
Pced1a G A 2: 130,264,435 (GRCm39) P132S probably damaging Het
Pla2r1 C T 2: 60,334,531 (GRCm39) V414M probably benign Het
Plekhg4 A C 8: 106,104,399 (GRCm39) I493L probably benign Het
Plekhj1 T A 10: 80,634,179 (GRCm39) probably benign Het
Pmfbp1 G T 8: 110,254,412 (GRCm39) K482N probably damaging Het
Ppil3 T C 1: 58,473,574 (GRCm39) N92S probably benign Het
Ppt2 A G 17: 34,844,686 (GRCm39) S156P probably benign Het
Prss41 A T 17: 24,056,087 (GRCm39) D255E probably benign Het
Psg25 T A 7: 18,255,227 (GRCm39) M430L probably benign Het
Rffl A T 11: 82,703,595 (GRCm39) C109* probably null Het
Rock2 A G 12: 17,021,111 (GRCm39) E991G probably benign Het
Rpap2 A G 5: 107,768,058 (GRCm39) I299V probably benign Het
Rras T C 7: 44,670,529 (GRCm39) S158P probably benign Het
Serpinb10 G A 1: 107,463,196 (GRCm39) probably benign Het
Smyd3 A T 1: 178,799,859 (GRCm39) I360N possibly damaging Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Tasor A G 14: 27,193,901 (GRCm39) T1034A probably benign Het
Tbc1d31 C A 15: 57,821,764 (GRCm39) T813K possibly damaging Het
Trav7n-4 A G 14: 53,329,103 (GRCm39) M38V probably benign Het
Tulp3 A C 6: 128,301,943 (GRCm39) N359K possibly damaging Het
Twf1 T C 15: 94,480,654 (GRCm39) K196E probably benign Het
Usp24 A T 4: 106,173,771 (GRCm39) N35Y probably damaging Het
Usp46 T A 5: 74,162,772 (GRCm39) E342D probably benign Het
Vps50 T A 6: 3,532,202 (GRCm39) probably null Het
Vps8 T A 16: 21,330,308 (GRCm39) I727N possibly damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zfp11 A T 5: 129,734,027 (GRCm39) V478E possibly damaging Het
Zfp493 A G 13: 67,935,123 (GRCm39) K359E probably benign Het
Zfp536 T C 7: 37,268,126 (GRCm39) Y430C probably damaging Het
Zfpm1 A G 8: 123,063,689 (GRCm39) D916G unknown 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
R6905:Pcdhb15 UTSW 18 37,607,748 (GRCm39) missense possibly damaging 0.95
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
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'- TCTGCCAGGGACTTAGACAC -3'
(R):5'- TTCCACAGATGGCTTCAGGAC -3'

Sequencing Primer
(F):5'- CTTAGACACAGGAAGTTACGGAC -3'
(R):5'- CTTCAGGACGAAAGGGAGATCATTC -3'
Posted On 2019-11-26