Incidental Mutation 'R3417:Pcdhb15'
ID 266871
Institutional Source Beutler Lab
Gene Symbol Pcdhb15
Ensembl Gene ENSMUSG00000047033
Gene Name protocadherin beta 15
Synonyms Pcdhb7, PcdhbO
MMRRC Submission 040635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3417 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37606599-37609393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37608216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 483 (N483Y)
Ref Sequence ENSEMBL: ENSMUSP00000059598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y04
Predicted Effect probably damaging
Transcript: ENSMUST00000050034
AA Change: N483Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: N483Y

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 0.6276 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,224,302 (GRCm39) probably benign Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Ankar A G 1: 72,698,135 (GRCm39) probably null Het
Ankrd17 G A 5: 90,391,772 (GRCm39) T1857I possibly damaging Het
Atp6v0d2 A G 4: 19,888,829 (GRCm39) probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Cfc1 A T 1: 34,575,457 (GRCm39) R44* probably null Het
Col6a1 C T 10: 76,548,203 (GRCm39) V618M unknown Het
Crmp1 A T 5: 37,426,031 (GRCm39) I159L possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Fsip2 G A 2: 82,816,854 (GRCm39) V4196I possibly damaging Het
Icosl A T 10: 77,907,869 (GRCm39) N143I possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irag1 T C 7: 110,476,161 (GRCm39) T597A possibly damaging Het
Jrk A G 15: 74,578,734 (GRCm39) Y184H probably damaging Het
Kdm5b T C 1: 134,515,715 (GRCm39) L113P probably damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Map4k5 A T 12: 69,856,038 (GRCm39) V716E probably damaging Het
Mcm9 T C 10: 53,413,503 (GRCm39) T1264A possibly damaging Het
Mia3 T A 1: 183,143,444 (GRCm39) D100V probably damaging Het
Mrgprb2 C A 7: 48,202,281 (GRCm39) R148L probably damaging Het
Mterf1a A G 5: 3,940,795 (GRCm39) S358P probably damaging Het
Myd88 T C 9: 119,166,556 (GRCm39) I253V possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nqo2 G T 13: 34,163,616 (GRCm39) V92L probably benign Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
Pds5a A G 5: 65,795,235 (GRCm39) F667S probably damaging Het
Plxnb1 C A 9: 108,929,828 (GRCm39) A228E probably damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn8a A G 15: 100,869,549 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc44a1 G A 4: 53,553,549 (GRCm39) V519I probably benign Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Sptlc2 A G 12: 87,393,582 (GRCm39) probably benign Het
St13 A T 15: 81,253,651 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tex55 A C 16: 38,649,102 (GRCm39) D2E probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tnr T C 1: 159,722,612 (GRCm39) V1019A probably benign Het
Ttn A T 2: 76,615,908 (GRCm39) C14932* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign 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
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
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'- ATCACAGTCACCGACATGG -3'
(R):5'- TGTCGTCCAGTATCACCACG -3'

Sequencing Primer
(F):5'- GTCACCGACATGGGCATAC -3'
(R):5'- ACCAGAGCCTGACTGCTGAG -3'
Posted On 2015-02-18