Incidental Mutation 'R1777:Pcdhb21'
ID 197180
Institutional Source Beutler Lab
Gene Symbol Pcdhb21
Ensembl Gene ENSMUSG00000044022
Gene Name protocadherin beta 21
Synonyms PcdhbU, Pcdhb18
MMRRC Submission 039808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1777 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37646678-37650260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37648771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 633 (D633E)
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: D633E

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: D633E

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T A 1: 16,148,813 (GRCm39) D111V possibly damaging Het
Ap2a1 G A 7: 44,553,576 (GRCm39) T597M probably damaging Het
Arhgap25 A G 6: 87,440,289 (GRCm39) S364P probably benign Het
Atp6v1a G T 16: 43,935,068 (GRCm39) Y40* probably null Het
Cdh1 T A 8: 107,383,467 (GRCm39) H235Q probably damaging Het
Cntln A G 4: 85,048,916 (GRCm39) E1376G probably benign Het
Cntnap5b T A 1: 100,297,803 (GRCm39) S781T probably benign Het
Cpne4 A G 9: 104,749,887 (GRCm39) T64A probably damaging Het
Ctsg T C 14: 56,338,058 (GRCm39) Y179C probably damaging Het
Cx3cr1 A G 9: 119,880,659 (GRCm39) Y248H probably damaging Het
Dhx37 T C 5: 125,506,995 (GRCm39) E167G probably benign Het
Dnajc21 C A 15: 10,449,693 (GRCm39) A443S probably benign Het
Drd5 T C 5: 38,477,504 (GRCm39) S166P probably damaging Het
Dscaml1 T C 9: 45,595,054 (GRCm39) L719P possibly damaging Het
Eif2ak4 T C 2: 118,261,320 (GRCm39) I542T probably damaging Het
Ephb3 G A 16: 21,035,985 (GRCm39) G291E probably damaging Het
Eva1a T A 6: 82,069,137 (GRCm39) Y155N probably damaging Het
Exog C T 9: 119,278,884 (GRCm39) P189L probably damaging Het
Fam13b A G 18: 34,590,813 (GRCm39) V455A possibly damaging Het
Fmn2 C A 1: 174,409,488 (GRCm39) Q574K unknown Het
Gm6871 A T 7: 41,195,143 (GRCm39) S531R probably benign Het
Golga2 T A 2: 32,195,482 (GRCm39) probably null Het
Hydin C T 8: 111,316,203 (GRCm39) P4365L probably benign Het
Ints8 A T 4: 11,225,600 (GRCm39) probably null Het
Kbtbd12 A C 6: 88,595,042 (GRCm39) S263A probably benign Het
Kcng4 T C 8: 120,360,226 (GRCm39) D50G probably benign Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Klk1b4 A G 7: 43,856,875 (GRCm39) probably benign Het
Klk7 G A 7: 43,462,753 (GRCm39) C186Y probably damaging Het
Krbox5 A T 13: 67,981,984 (GRCm39) R65S probably benign Het
Krit1 T C 5: 3,886,799 (GRCm39) Y635H probably damaging Het
Lipo4 A T 19: 33,476,721 (GRCm39) D342E probably damaging Het
Lsm14b T G 2: 179,673,588 (GRCm39) D199E probably benign Het
Map3k4 A T 17: 12,490,617 (GRCm39) N271K possibly damaging Het
Mast1 T A 8: 85,638,697 (GRCm39) N1544I probably benign Het
Megf6 T A 4: 154,355,147 (GRCm39) C1487* probably null Het
Mlh3 C A 12: 85,315,528 (GRCm39) K219N possibly damaging Het
Mtmr4 A G 11: 87,493,656 (GRCm39) K305E probably damaging Het
Myo15a A G 11: 60,405,762 (GRCm39) M3105V probably benign Het
Nbas A T 12: 13,563,563 (GRCm39) I1958F probably benign Het
Nepro A T 16: 44,556,216 (GRCm39) Q458L probably damaging Het
Opa3 T C 7: 18,978,837 (GRCm39) Y101H probably damaging Het
Or11g25 T A 14: 50,723,757 (GRCm39) F281I probably benign Het
Or14c41 T A 7: 86,235,272 (GRCm39) I263N probably benign Het
Or4f15 T A 2: 111,814,042 (GRCm39) I126L possibly damaging Het
Or51f1d T C 7: 102,700,583 (GRCm39) I26T probably benign Het
Or5ac16 A G 16: 59,022,379 (GRCm39) S137P probably benign Het
Or8b12 A G 9: 37,657,607 (GRCm39) Y59C possibly damaging Het
Pate3 T C 9: 35,559,412 (GRCm39) N2D probably benign Het
Pgm2 C T 5: 64,285,125 (GRCm39) P589L probably benign Het
Pigg T A 5: 108,465,257 (GRCm39) D163E probably damaging Het
Polq A G 16: 36,880,586 (GRCm39) T638A possibly damaging Het
Prmt3 T A 7: 49,448,094 (GRCm39) M268K possibly damaging Het
Prmt9 T C 8: 78,291,737 (GRCm39) C370R probably benign Het
Prss57 A T 10: 79,623,219 (GRCm39) V76E possibly damaging Het
Psme3ip1 T C 8: 95,315,439 (GRCm39) E31G probably damaging Het
Pzp T C 6: 128,467,535 (GRCm39) E1089G possibly damaging Het
Qars1 T A 9: 108,385,400 (GRCm39) probably null Het
Ralgapb T C 2: 158,304,115 (GRCm39) Y625H probably damaging Het
Rgl2 G A 17: 34,150,718 (GRCm39) D59N probably benign Het
Robo1 T G 16: 72,801,555 (GRCm39) W1060G probably benign Het
Scaper A T 9: 55,771,830 (GRCm39) V362E probably benign Het
Schip1 T C 3: 68,525,017 (GRCm39) F131S probably damaging Het
Sh2b2 A T 5: 136,256,276 (GRCm39) V252D probably damaging Het
Shld2 C A 14: 33,990,130 (GRCm39) V259L probably benign Het
Slc17a6 A T 7: 51,295,957 (GRCm39) H199L possibly damaging Het
Slc29a1 A G 17: 45,898,234 (GRCm39) Y325H probably damaging Het
Slc29a4 G T 5: 142,699,817 (GRCm39) W156L probably damaging Het
Slc5a3 T A 16: 91,874,644 (GRCm39) S234T probably benign Het
Srd5a3 T G 5: 76,297,630 (GRCm39) V20G probably damaging Het
Stac A T 9: 111,433,150 (GRCm39) S223T possibly damaging Het
Sytl2 A T 7: 90,052,260 (GRCm39) T766S probably benign Het
Tas2r102 A G 6: 132,739,254 (GRCm39) D54G probably benign Het
Tbpl1 A G 10: 22,583,742 (GRCm39) V105A probably damaging Het
Tenm3 G T 8: 48,870,214 (GRCm39) P193Q probably benign Het
Tes G A 6: 17,104,754 (GRCm39) V403M probably benign Het
Tgfbr2 A C 9: 115,938,948 (GRCm39) I318S probably damaging Het
Tgfbr3 C A 5: 107,284,796 (GRCm39) V618L probably benign Het
Tmc1 C T 19: 20,793,473 (GRCm39) probably null Het
Tmem132a G A 19: 10,835,870 (GRCm39) H887Y probably damaging Het
Tmem43 C A 6: 91,454,312 (GRCm39) S33* probably null Het
Tob1 A G 11: 94,104,580 (GRCm39) K39E probably damaging Het
Tut7 A T 13: 59,939,635 (GRCm39) H705Q probably damaging Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Usp25 T C 16: 76,878,442 (GRCm39) M622T probably damaging Het
Vmn1r158 A T 7: 22,489,855 (GRCm39) L118Q probably damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r15 A T 5: 109,442,136 (GRCm39) I99K possibly damaging Het
Vwa7 T A 17: 35,243,924 (GRCm39) V786E probably damaging Het
Xkr5 A G 8: 18,989,148 (GRCm39) F248S probably benign Het
Zzef1 A T 11: 72,801,098 (GRCm39) K2444M 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
R0519:Pcdhb21 UTSW 18 37,649,085 (GRCm39) missense possibly damaging 0.95
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
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'- GACAATGACAATGCGCCCTTCG -3'
(R):5'- TGTCCATCAGGTTCAGAGTAGCCAC -3'

Sequencing Primer
(F):5'- TGCTCTACCCGATGCAGAAC -3'
(R):5'- GTTCAGAGTAGCCACTCAGAG -3'
Posted On 2014-05-23