Incidental Mutation 'IGL00927:Pcdhb21'
ID 29413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb21
Ensembl Gene ENSMUSG00000044022
Gene Name protocadherin beta 21
Synonyms PcdhbU, Pcdhb18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL00927
Quality Score
Status
Chromosome 18
Chromosomal Location 37646678-37650260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37647606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 245 (Y245C)
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: Y245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: Y245C

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Pcdhb21
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17