Incidental Mutation 'R6595:Pcdhb21'
ID 524899
Institutional Source Beutler Lab
Gene Symbol Pcdhb21
Ensembl Gene ENSMUSG00000044022
Gene Name protocadherin beta 21
Synonyms PcdhbU, Pcdhb18
MMRRC Submission 044719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6595 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37646678-37650260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37648961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 697 (S697P)
Ref Sequence ENSEMBL: ENSMUSP00000056424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]
AlphaFold Q91V48
Predicted Effect probably damaging
Transcript: ENSMUST00000061405
AA Change: S697P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: S697P

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,993,710 (GRCm39) Y1310F probably benign Het
Ankrd54 A G 15: 78,942,185 (GRCm39) F148L probably damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Camk2b A T 11: 5,942,856 (GRCm39) H126Q probably damaging Het
Camsap3 G T 8: 3,654,186 (GRCm39) V608L probably damaging Het
Camsap3 A T 8: 3,658,742 (GRCm39) M796L probably damaging Het
Cdh19 T C 1: 110,853,517 (GRCm39) D308G probably benign Het
Cfap299 A T 5: 98,949,717 (GRCm39) D217V possibly damaging Het
Cpsf1 T C 15: 76,486,710 (GRCm39) I275M probably damaging Het
Cuta A G 17: 27,157,856 (GRCm39) probably null Het
Dclk2 A G 3: 86,699,374 (GRCm39) probably benign Het
Dst T G 1: 34,289,761 (GRCm39) L784R probably damaging Het
Fbn1 T C 2: 125,184,750 (GRCm39) M1681V possibly damaging Het
Fbxo9 A T 9: 77,994,494 (GRCm39) D274E probably damaging Het
Frem2 T A 3: 53,457,205 (GRCm39) D2049V probably damaging Het
Fscn3 T C 6: 28,430,174 (GRCm39) Y115H probably damaging Het
Glp2r G T 11: 67,655,603 (GRCm39) D46E probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Irx5 A G 8: 93,086,247 (GRCm39) Y110C probably damaging Het
Kdm5d T C Y: 939,829 (GRCm39) S994P probably benign Homo
Klhl2 A T 8: 65,196,077 (GRCm39) C555* probably null Het
Krtap4-7 A T 11: 99,534,560 (GRCm39) I101N unknown Het
Or13a27 A G 7: 139,925,560 (GRCm39) L114P probably damaging Het
Or4f57 A T 2: 111,790,515 (GRCm39) V301E possibly damaging Het
Pramel27 T C 4: 143,579,326 (GRCm39) C304R probably damaging Het
Rasgrf2 A T 13: 92,167,361 (GRCm39) H237Q probably damaging Het
Rnf216 A T 5: 143,076,412 (GRCm39) D157E probably benign Het
Rxrg T A 1: 167,454,905 (GRCm39) F163I probably damaging Het
Soat2 T A 15: 102,069,028 (GRCm39) I351N probably damaging Het
Srp72 C T 5: 77,132,047 (GRCm39) T242I probably benign Het
Svopl T C 6: 38,018,002 (GRCm39) probably null Het
Tbc1d2b G A 9: 90,108,145 (GRCm39) P469S probably benign Het
Tbkbp1 G A 11: 97,029,578 (GRCm39) probably benign Het
Tecta A G 9: 42,295,523 (GRCm39) V324A probably damaging Het
Twnk T C 19: 44,998,931 (GRCm39) V557A probably damaging Het
Vmn2r18 G A 5: 151,485,889 (GRCm39) T535I probably damaging Het
Zc3h14 T A 12: 98,723,285 (GRCm39) S85T 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
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
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'- GCTGCTAGTCAAGGACAATGG -3'
(R):5'- TTGGGAGACAGGCTTTAGGAAC -3'

Sequencing Primer
(F):5'- TAGTCAAGGACAATGGCGATCCTC -3'
(R):5'- GGCTTTAGGAACCGAATATCATTGG -3'
Posted On 2018-06-22