Incidental Mutation 'IGL01819:Pcdhb22'
ID 154455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb22
Ensembl Gene ENSMUSG00000073591
Gene Name protocadherin beta 22
Synonyms Pcdhb15, PcdhbV
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01819
Quality Score
Status
Chromosome 18
Chromosomal Location 37651402-37657532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37652974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 481 (N481Y)
Ref Sequence ENSEMBL: ENSMUSP00000141521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]
AlphaFold Q91XZ8
Predicted Effect probably benign
Transcript: ENSMUST00000061405
SMART Domains Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022

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 damaging
Transcript: ENSMUST00000097609
AA Change: N224Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591
AA Change: N224Y

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 damaging
Transcript: ENSMUST00000192409
AA Change: N481Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: N481Y

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Phf11c T C 14: 59,630,586 (GRCm39) T40A probably benign Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Pcdhb22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Pcdhb22 APN 18 37,653,185 (GRCm39) missense probably damaging 1.00
IGL00775:Pcdhb22 APN 18 37,652,795 (GRCm39) missense probably benign 0.09
IGL01414:Pcdhb22 APN 18 37,652,549 (GRCm39) missense probably damaging 1.00
IGL02232:Pcdhb22 APN 18 37,653,602 (GRCm39) missense probably damaging 1.00
IGL03226:Pcdhb22 APN 18 37,652,009 (GRCm39) missense probably damaging 1.00
chipper UTSW 18 37,652,155 (GRCm39) missense probably benign 0.39
timber UTSW 18 37,652,200 (GRCm39) missense probably damaging 1.00
R0071:Pcdhb22 UTSW 18 37,653,131 (GRCm39) missense probably damaging 1.00
R0363:Pcdhb22 UTSW 18 37,652,213 (GRCm39) missense probably benign 0.01
R0454:Pcdhb22 UTSW 18 37,651,925 (GRCm39) missense probably damaging 0.99
R0624:Pcdhb22 UTSW 18 37,651,780 (GRCm39) missense probably benign 0.00
R0707:Pcdhb22 UTSW 18 37,651,904 (GRCm39) missense probably damaging 1.00
R0918:Pcdhb22 UTSW 18 37,653,067 (GRCm39) missense probably damaging 1.00
R1112:Pcdhb22 UTSW 18 37,652,821 (GRCm39) missense possibly damaging 0.61
R1299:Pcdhb22 UTSW 18 37,653,643 (GRCm39) missense probably damaging 0.99
R1351:Pcdhb22 UTSW 18 37,651,627 (GRCm39) missense probably benign 0.10
R1488:Pcdhb22 UTSW 18 37,652,941 (GRCm39) missense possibly damaging 0.79
R1595:Pcdhb22 UTSW 18 37,653,506 (GRCm39) missense probably damaging 1.00
R1709:Pcdhb22 UTSW 18 37,651,553 (GRCm39) missense probably benign 0.31
R1725:Pcdhb22 UTSW 18 37,653,241 (GRCm39) missense probably benign 0.04
R1869:Pcdhb22 UTSW 18 37,652,200 (GRCm39) missense probably damaging 1.00
R1871:Pcdhb22 UTSW 18 37,652,200 (GRCm39) missense probably damaging 1.00
R1891:Pcdhb22 UTSW 18 37,652,357 (GRCm39) missense probably damaging 0.97
R4523:Pcdhb22 UTSW 18 37,653,474 (GRCm39) missense probably benign 0.05
R4825:Pcdhb22 UTSW 18 37,653,713 (GRCm39) missense possibly damaging 0.80
R4831:Pcdhb22 UTSW 18 37,653,615 (GRCm39) missense probably damaging 1.00
R4851:Pcdhb22 UTSW 18 37,652,087 (GRCm39) missense possibly damaging 0.89
R4978:Pcdhb22 UTSW 18 37,651,654 (GRCm39) missense probably benign 0.16
R5047:Pcdhb22 UTSW 18 37,652,179 (GRCm39) missense probably damaging 1.00
R5061:Pcdhb22 UTSW 18 37,652,179 (GRCm39) missense probably damaging 1.00
R5063:Pcdhb22 UTSW 18 37,652,179 (GRCm39) missense probably damaging 1.00
R5467:Pcdhb22 UTSW 18 37,653,188 (GRCm39) missense probably benign 0.02
R6005:Pcdhb22 UTSW 18 37,652,789 (GRCm39) missense possibly damaging 0.75
R6375:Pcdhb22 UTSW 18 37,651,357 (GRCm39) intron probably benign
R6418:Pcdhb22 UTSW 18 37,652,959 (GRCm39) missense possibly damaging 0.88
R6447:Pcdhb22 UTSW 18 37,653,269 (GRCm39) missense possibly damaging 0.91
R6748:Pcdhb22 UTSW 18 37,651,799 (GRCm39) missense probably damaging 0.99
R7195:Pcdhb22 UTSW 18 37,652,341 (GRCm39) missense probably damaging 1.00
R7243:Pcdhb22 UTSW 18 37,653,685 (GRCm39) missense probably benign 0.00
R7354:Pcdhb22 UTSW 18 37,653,311 (GRCm39) missense probably damaging 1.00
R7503:Pcdhb22 UTSW 18 37,652,155 (GRCm39) missense probably benign 0.39
R7765:Pcdhb22 UTSW 18 37,652,158 (GRCm39) missense probably damaging 0.99
R8201:Pcdhb22 UTSW 18 37,651,518 (GRCm39) intron probably benign
R8976:Pcdhb22 UTSW 18 37,651,396 (GRCm39) intron probably benign
R9059:Pcdhb22 UTSW 18 37,652,722 (GRCm39) missense probably damaging 1.00
R9072:Pcdhb22 UTSW 18 37,651,813 (GRCm39) missense probably damaging 1.00
R9082:Pcdhb22 UTSW 18 37,653,047 (GRCm39) missense probably damaging 1.00
R9299:Pcdhb22 UTSW 18 37,651,885 (GRCm39) nonsense probably null
R9725:Pcdhb22 UTSW 18 37,652,794 (GRCm39) missense probably damaging 0.99
R9796:Pcdhb22 UTSW 18 37,652,404 (GRCm39) missense possibly damaging 0.79
X0027:Pcdhb22 UTSW 18 37,653,904 (GRCm39) missense probably benign
Z1088:Pcdhb22 UTSW 18 37,652,398 (GRCm39) missense probably benign 0.39
Posted On 2014-02-04