Incidental Mutation 'R7243:Pcdhb22'
ID 563394
Institutional Source Beutler Lab
Gene Symbol Pcdhb22
Ensembl Gene ENSMUSG00000073591
Gene Name protocadherin beta 22
Synonyms Pcdhb15, PcdhbV
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37651402-37657532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37653685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 461 (R461G)
Ref Sequence ENSEMBL: ENSMUSP00000095214 (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 benign
Transcript: ENSMUST00000097609
AA Change: R461G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591
AA Change: R461G

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
AA Change: R718G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: R718G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q probably damaging 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
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
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'- CACTGCAGGTGCTAATGGTG -3'
(R):5'- AGAAGGACTGATCATCTGGTTG -3'

Sequencing Primer
(F):5'- AATGGTGGATGGCTTCTCTCAGC -3'
(R):5'- AAGGACTGATCATCTGGTTGCCTAC -3'
Posted On 2019-06-26