Incidental Mutation 'R6447:Pcdhb22'
ID 519240
Institutional Source Beutler Lab
Gene Symbol Pcdhb22
Ensembl Gene ENSMUSG00000073591
Gene Name protocadherin beta 22
Synonyms Pcdhb15, PcdhbV
MMRRC Submission 044389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6447 (G1)
Quality Score 222.009
Status Not validated
Chromosome 18
Chromosomal Location 37651402-37657532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37653269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 579 (E579G)
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 possibly damaging
Transcript: ENSMUST00000097609
AA Change: E322G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591
AA Change: E322G

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 possibly damaging
Transcript: ENSMUST00000192409
AA Change: E579G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: E579G

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: 98.0%
  • 20x: 93.9%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A G 3: 59,772,819 (GRCm39) I108V probably damaging Het
Axl C A 7: 25,469,708 (GRCm39) R476I probably damaging Het
Casr A G 16: 36,315,907 (GRCm39) L721P probably damaging Het
Cntn6 A T 6: 104,836,409 (GRCm39) H925L probably damaging Het
Csmd1 T C 8: 15,960,527 (GRCm39) Y3296C probably damaging Het
Dnah3 G A 7: 119,522,277 (GRCm39) T3972M probably benign Het
Ect2 A G 3: 27,169,633 (GRCm39) F740S probably damaging Het
Eif1ad10 T C 12: 88,216,494 (GRCm39) D126G unknown Het
Exoc1 T A 5: 76,691,364 (GRCm39) D222E probably damaging Het
Hdac2 T C 10: 36,869,812 (GRCm39) V258A possibly damaging Het
Lrrk1 A G 7: 65,952,476 (GRCm39) S487P probably benign Het
Lyplal1 A T 1: 185,821,639 (GRCm39) probably null Het
Nwd2 T A 5: 63,964,898 (GRCm39) I1494N probably benign Het
Samd8 T C 14: 21,842,624 (GRCm39) probably null Het
Sccpdh A G 1: 179,506,453 (GRCm39) *131W probably null Het
Smarcal1 C T 1: 72,625,033 (GRCm39) S60L probably damaging Het
Stau2 A T 1: 16,460,049 (GRCm39) V264E possibly damaging Het
T T C 17: 8,660,463 (GRCm39) I217T possibly damaging Het
Tbc1d1 C T 5: 64,490,836 (GRCm39) L896F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmprss11f T C 5: 86,676,086 (GRCm39) Y365C probably damaging Het
Trdv4 A G 14: 54,312,931 (GRCm39) T102A probably damaging Het
Vmn1r205 G T 13: 22,776,912 (GRCm39) N63K probably damaging Het
Vps13b T C 15: 35,572,272 (GRCm39) V963A probably benign Het
Zswim2 T C 2: 83,745,457 (GRCm39) probably null 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
IGL01819:Pcdhb22 APN 18 37,652,974 (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
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
Predicted Primers PCR Primer
(F):5'- TCCATCAACGCTGACAACGG -3'
(R):5'- TGCTTGGGTACATCTCGCTC -3'

Sequencing Primer
(F):5'- TGACAACGGGCAGCTGTTC -3'
(R):5'- TCACTCAACAGCCTGGTGG -3'
Posted On 2018-05-24