Incidental Mutation 'R0519:Pcdhb21'
ID 48427
Institutional Source Beutler Lab
Gene Symbol Pcdhb21
Ensembl Gene ENSMUSG00000044022
Gene Name protocadherin beta 21
Synonyms PcdhbU, Pcdhb18
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37646678-37650260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37649085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 738 (V738A)
Ref Sequence ENSEMBL: ENSMUSP00000056424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]
AlphaFold Q91V48
Predicted Effect possibly damaging
Transcript: ENSMUST00000061405
AA Change: V738A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: V738A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Cadherin_2 30 110 4.2e-30 PFAM
CA 153 238 1.8e-17 SMART
CA 262 343 1.54e-25 SMART
CA 367 448 1.03e-21 SMART
CA 472 558 3.41e-27 SMART
CA 588 669 1.54e-11 SMART
Pfam:Cadherin_C_2 686 769 1.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097609
SMART Domains Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cadherin_2 28 110 5.8e-32 PFAM
CA 153 238 3.99e-19 SMART
CA 262 343 2.18e-25 SMART
CA 366 447 1.53e-20 SMART
CA 471 557 3.6e-26 SMART
CA 587 668 5.35e-11 SMART
Pfam:Cadherin_C_2 685 768 4.5e-28 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: ENSMUST00000192409
SMART Domains Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cadherin_2 27 110 2.5e-32 PFAM
CA 153 238 3.99e-19 SMART
CA 262 343 2.18e-25 SMART
CA 366 447 1.53e-20 SMART
CA 471 557 3.6e-26 SMART
CA 587 668 5.35e-11 SMART
transmembrane domain 689 711 N/A INTRINSIC
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging Het
Other mutations in Pcdhb21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Pcdhb21 APN 18 37,647,606 (GRCm39) missense probably damaging 1.00
IGL01860:Pcdhb21 APN 18 37,647,958 (GRCm39) missense probably benign 0.00
IGL02139:Pcdhb21 APN 18 37,648,299 (GRCm39) missense probably damaging 1.00
IGL02370:Pcdhb21 APN 18 37,647,645 (GRCm39) splice site probably null
IGL03108:Pcdhb21 APN 18 37,648,944 (GRCm39) splice site probably null
IGL03265:Pcdhb21 APN 18 37,648,206 (GRCm39) missense probably damaging 1.00
R0454:Pcdhb21 UTSW 18 37,647,566 (GRCm39) missense probably damaging 1.00
R0647:Pcdhb21 UTSW 18 37,646,913 (GRCm39) missense probably damaging 0.99
R0689:Pcdhb21 UTSW 18 37,648,370 (GRCm39) missense probably benign 0.00
R1607:Pcdhb21 UTSW 18 37,648,532 (GRCm39) missense probably damaging 1.00
R1649:Pcdhb21 UTSW 18 37,648,666 (GRCm39) missense probably damaging 1.00
R1777:Pcdhb21 UTSW 18 37,648,771 (GRCm39) missense possibly damaging 0.80
R1865:Pcdhb21 UTSW 18 37,647,648 (GRCm39) missense possibly damaging 0.95
R4595:Pcdhb21 UTSW 18 37,647,568 (GRCm39) missense probably damaging 1.00
R4888:Pcdhb21 UTSW 18 37,648,130 (GRCm39) missense possibly damaging 0.76
R5281:Pcdhb21 UTSW 18 37,646,988 (GRCm39) missense probably benign 0.00
R5396:Pcdhb21 UTSW 18 37,648,772 (GRCm39) missense probably benign 0.03
R5398:Pcdhb21 UTSW 18 37,648,772 (GRCm39) missense probably benign 0.03
R5399:Pcdhb21 UTSW 18 37,648,772 (GRCm39) missense probably benign 0.03
R5635:Pcdhb21 UTSW 18 37,646,970 (GRCm39) missense probably benign 0.33
R6134:Pcdhb21 UTSW 18 37,647,461 (GRCm39) missense probably benign 0.03
R6387:Pcdhb21 UTSW 18 37,648,385 (GRCm39) missense probably benign 0.35
R6595:Pcdhb21 UTSW 18 37,648,961 (GRCm39) missense probably damaging 1.00
R6750:Pcdhb21 UTSW 18 37,647,501 (GRCm39) missense probably damaging 1.00
R6754:Pcdhb21 UTSW 18 37,647,736 (GRCm39) missense probably benign 0.28
R6928:Pcdhb21 UTSW 18 37,647,474 (GRCm39) missense probably damaging 1.00
R7420:Pcdhb21 UTSW 18 37,648,256 (GRCm39) missense probably damaging 1.00
R7503:Pcdhb21 UTSW 18 37,648,028 (GRCm39) missense probably benign 0.07
R8164:Pcdhb21 UTSW 18 37,649,057 (GRCm39) missense probably benign 0.32
R8219:Pcdhb21 UTSW 18 37,647,708 (GRCm39) missense probably damaging 1.00
R8271:Pcdhb21 UTSW 18 37,648,921 (GRCm39) missense probably benign 0.00
R8336:Pcdhb21 UTSW 18 37,648,942 (GRCm39) nonsense probably null
R8442:Pcdhb21 UTSW 18 37,646,841 (GRCm39) intron probably benign
R8678:Pcdhb21 UTSW 18 37,647,939 (GRCm39) missense probably damaging 1.00
R9096:Pcdhb21 UTSW 18 37,648,071 (GRCm39) missense probably damaging 1.00
R9564:Pcdhb21 UTSW 18 37,646,972 (GRCm39) missense possibly damaging 0.48
R9601:Pcdhb21 UTSW 18 37,648,385 (GRCm39) missense probably damaging 1.00
Z1088:Pcdhb21 UTSW 18 37,647,594 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTGCTGCTAGTCAAGGACAATG -3'
(R):5'- GGAACCATGATGAGAGTCAACAAATTGC -3'

Sequencing Primer
(F):5'- CGACTCTACCCAAGTGGATGAG -3'
(R):5'- GAGTCAACAAATTGCTAATTGTATCC -3'
Posted On 2013-06-12