Incidental Mutation 'R8299:Pcdhb17'
ID 639166
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 067787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8299 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37618408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 66 (I66T)
Ref Sequence ENSEMBL: ENSMUSP00000055072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051442] [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VD8
Predicted Effect probably benign
Transcript: ENSMUST00000051442
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 46 132 7.7e-1 SMART
CA 156 241 1.93e-17 SMART
CA 265 346 4.2e-27 SMART
CA 369 450 1.08e-24 SMART
CA 474 560 3.31e-25 SMART
CA 590 671 2.87e-11 SMART
Pfam:Cadherin_C_2 687 770 4.1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053856
AA Change: I66T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: I66T

DomainStartEndE-ValueType
Pfam:Cadherin_2 31 112 5.8e-35 PFAM
CA 155 240 2.42e-18 SMART
CA 264 345 8.03e-24 SMART
CA 368 449 5.81e-21 SMART
CA 473 559 8.15e-25 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 770 1.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055949
SMART Domains Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Cadherin_2 30 112 3.1e-34 PFAM
CA 155 240 7.97e-19 SMART
CA 264 345 6.27e-26 SMART
CA 368 449 2.63e-19 SMART
CA 473 559 7.09e-25 SMART
CA 589 670 2.87e-11 SMART
Pfam:Cadherin_C_2 687 771 7.9e-27 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: 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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C A 10: 69,811,981 (GRCm39) P1216Q probably damaging Het
Aspscr1 T C 11: 120,599,900 (GRCm39) Y164H Het
Atp13a3 A C 16: 30,152,619 (GRCm39) F1021C probably damaging Het
Bcl9 T C 3: 97,112,852 (GRCm39) D1201G probably damaging Het
Bora G A 14: 99,305,570 (GRCm39) R313Q probably benign Het
Cdh19 A G 1: 110,847,278 (GRCm39) Y444H probably benign Het
Cep70 A T 9: 99,144,914 (GRCm39) M87L possibly damaging Het
Clstn3 A G 6: 124,414,332 (GRCm39) probably null Het
Cntnap4 G A 8: 113,500,324 (GRCm39) G539S probably damaging Het
Csf2rb T A 15: 78,230,669 (GRCm39) Y471N possibly damaging Het
Dctn4 T A 18: 60,678,872 (GRCm39) I197N probably benign Het
Ednrb A G 14: 104,060,936 (GRCm39) L163P probably damaging Het
Elovl2 T C 13: 41,345,396 (GRCm39) N101D probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etl4 T A 2: 20,748,874 (GRCm39) I404K possibly damaging Het
Gadd45a A G 6: 67,014,183 (GRCm39) probably null Het
Gfod2 T C 8: 106,454,794 (GRCm39) T29A probably benign Het
Hltf A G 3: 20,136,986 (GRCm39) K408E possibly damaging Het
Inf2 A G 12: 112,570,546 (GRCm39) T362A probably benign Het
Klhl12 G A 1: 134,416,678 (GRCm39) G467R probably damaging Het
Lrrk2 A T 15: 91,557,443 (GRCm39) probably benign Het
Mcee G A 7: 64,061,621 (GRCm39) E29K unknown Het
Mki67 A T 7: 135,306,349 (GRCm39) I571N probably damaging Het
Morc3 T C 16: 93,650,088 (GRCm39) Y290H probably damaging Het
Mtcl2 T G 2: 156,862,651 (GRCm39) E1426A possibly damaging Het
Muc4 A G 16: 32,576,271 (GRCm39) T1924A unknown Het
Myh14 T A 7: 44,276,472 (GRCm39) D1170V probably damaging Het
Or10al5 G T 17: 38,062,891 (GRCm39) E49* probably null Het
Or51a6 T C 7: 102,604,739 (GRCm39) E30G probably damaging Het
Or55b4 T C 7: 102,133,409 (GRCm39) H306R probably benign Het
Or6c66 T C 10: 129,461,829 (GRCm39) I34V probably benign Het
Pkhd1l1 T C 15: 44,445,330 (GRCm39) V3734A probably benign Het
Plcb1 T C 2: 135,177,396 (GRCm39) L576P probably damaging Het
Plxnc1 T A 10: 94,663,041 (GRCm39) N1203Y probably benign Het
Pramel16 T C 4: 143,677,327 (GRCm39) N84S probably benign Het
Prkn T G 17: 11,456,408 (GRCm39) S77R probably benign Het
Rev3l C T 10: 39,697,537 (GRCm39) S678L probably benign Het
Rims3 T C 4: 120,746,569 (GRCm39) Y197H probably damaging Het
S1pr4 A G 10: 81,335,267 (GRCm39) M69T probably benign Het
Sf3a1 T C 11: 4,129,420 (GRCm39) Y757H possibly damaging Het
Slc30a9 T A 5: 67,484,248 (GRCm39) N128K probably damaging Het
Slc35a4 T C 18: 36,815,980 (GRCm39) V270A possibly damaging Het
Speg A C 1: 75,364,480 (GRCm39) D287A possibly damaging Het
St18 T C 1: 6,873,216 (GRCm39) V317A probably benign Het
Stk11 G T 10: 79,963,867 (GRCm39) E350D probably benign Het
Strn3 A G 12: 51,694,890 (GRCm39) L291S probably damaging Het
Susd1 C T 4: 59,315,773 (GRCm39) V733I probably benign Het
Tep1 T C 14: 51,105,502 (GRCm39) R173G probably benign Het
Tmem115 T C 9: 107,411,745 (GRCm39) V23A possibly damaging Het
Top2b A G 14: 16,386,123 (GRCm38) N110D possibly damaging Het
Wfikkn2 C T 11: 94,129,890 (GRCm39) V84M probably damaging Het
Other mutations in Pcdhb17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Pcdhb17 APN 18 37,619,059 (GRCm39) splice site probably null
IGL01367:Pcdhb17 APN 18 37,620,548 (GRCm39) missense probably benign 0.01
IGL01923:Pcdhb17 APN 18 37,619,790 (GRCm39) missense probably benign 0.43
IGL02060:Pcdhb17 APN 18 37,619,469 (GRCm39) missense probably damaging 1.00
IGL02494:Pcdhb17 APN 18 37,618,347 (GRCm39) missense possibly damaging 0.73
IGL02654:Pcdhb17 APN 18 37,619,614 (GRCm39) missense probably benign 0.03
IGL03168:Pcdhb17 APN 18 37,618,825 (GRCm39) missense probably benign 0.15
doughnut UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
miniscule UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
PIT4434001:Pcdhb17 UTSW 18 37,618,704 (GRCm39) missense probably damaging 1.00
R0364:Pcdhb17 UTSW 18 37,618,888 (GRCm39) missense possibly damaging 0.95
R1013:Pcdhb17 UTSW 18 37,619,020 (GRCm39) missense probably damaging 1.00
R1052:Pcdhb17 UTSW 18 37,619,899 (GRCm39) missense probably damaging 1.00
R1226:Pcdhb17 UTSW 18 37,620,313 (GRCm39) missense probably damaging 1.00
R1258:Pcdhb17 UTSW 18 37,618,587 (GRCm39) missense probably damaging 0.98
R1335:Pcdhb17 UTSW 18 37,619,287 (GRCm39) missense probably damaging 1.00
R1443:Pcdhb17 UTSW 18 37,619,701 (GRCm39) missense probably benign 0.15
R1451:Pcdhb17 UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
R1505:Pcdhb17 UTSW 18 37,619,875 (GRCm39) missense probably damaging 1.00
R1591:Pcdhb17 UTSW 18 37,618,878 (GRCm39) missense probably damaging 1.00
R1742:Pcdhb17 UTSW 18 37,619,629 (GRCm39) missense probably damaging 0.99
R1750:Pcdhb17 UTSW 18 37,620,070 (GRCm39) missense possibly damaging 0.81
R1750:Pcdhb17 UTSW 18 37,618,764 (GRCm39) missense probably damaging 1.00
R1764:Pcdhb17 UTSW 18 37,620,324 (GRCm39) missense probably damaging 1.00
R1863:Pcdhb17 UTSW 18 37,619,164 (GRCm39) missense probably benign 0.00
R1888:Pcdhb17 UTSW 18 37,620,438 (GRCm39) splice site probably null
R1888:Pcdhb17 UTSW 18 37,620,438 (GRCm39) splice site probably null
R2095:Pcdhb17 UTSW 18 37,619,375 (GRCm39) missense probably benign 0.14
R4565:Pcdhb17 UTSW 18 37,619,523 (GRCm39) missense probably benign 0.14
R4658:Pcdhb17 UTSW 18 37,619,652 (GRCm39) missense probably damaging 1.00
R4669:Pcdhb17 UTSW 18 37,619,259 (GRCm39) missense probably damaging 0.99
R4816:Pcdhb17 UTSW 18 37,620,450 (GRCm39) missense probably benign 0.39
R4910:Pcdhb17 UTSW 18 37,618,212 (GRCm39) start codon destroyed possibly damaging 0.90
R5209:Pcdhb17 UTSW 18 37,620,514 (GRCm39) missense probably damaging 1.00
R5248:Pcdhb17 UTSW 18 37,618,939 (GRCm39) missense probably benign 0.00
R5254:Pcdhb17 UTSW 18 37,619,878 (GRCm39) missense probably damaging 1.00
R5494:Pcdhb17 UTSW 18 37,620,300 (GRCm39) missense probably damaging 1.00
R5544:Pcdhb17 UTSW 18 37,620,474 (GRCm39) missense possibly damaging 0.61
R5952:Pcdhb17 UTSW 18 37,620,133 (GRCm39) missense probably benign 0.04
R5977:Pcdhb17 UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
R6262:Pcdhb17 UTSW 18 37,619,751 (GRCm39) missense probably damaging 1.00
R6311:Pcdhb17 UTSW 18 37,619,316 (GRCm39) splice site probably null
R6495:Pcdhb17 UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
R6710:Pcdhb17 UTSW 18 37,618,452 (GRCm39) missense probably damaging 0.96
R7097:Pcdhb17 UTSW 18 37,619,566 (GRCm39) missense probably benign
R7122:Pcdhb17 UTSW 18 37,619,566 (GRCm39) missense probably benign
R7130:Pcdhb17 UTSW 18 37,618,498 (GRCm39) missense probably damaging 1.00
R7437:Pcdhb17 UTSW 18 37,619,145 (GRCm39) missense probably benign 0.01
R7642:Pcdhb17 UTSW 18 37,618,779 (GRCm39) missense probably damaging 1.00
R7703:Pcdhb17 UTSW 18 37,619,801 (GRCm39) missense probably benign 0.01
R7771:Pcdhb17 UTSW 18 37,619,962 (GRCm39) missense possibly damaging 0.95
R7898:Pcdhb17 UTSW 18 37,618,233 (GRCm39) missense probably benign 0.00
R8028:Pcdhb17 UTSW 18 37,620,502 (GRCm39) missense probably benign 0.03
R8560:Pcdhb17 UTSW 18 37,619,206 (GRCm39) missense possibly damaging 0.92
R8844:Pcdhb17 UTSW 18 37,618,801 (GRCm39) missense probably benign 0.12
R8925:Pcdhb17 UTSW 18 37,620,372 (GRCm39) missense probably benign 0.40
R8927:Pcdhb17 UTSW 18 37,620,372 (GRCm39) missense probably benign 0.40
R9050:Pcdhb17 UTSW 18 37,620,286 (GRCm39) missense probably damaging 1.00
R9162:Pcdhb17 UTSW 18 37,620,168 (GRCm39) missense probably damaging 0.97
R9243:Pcdhb17 UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
R9286:Pcdhb17 UTSW 18 37,619,422 (GRCm39) missense probably benign 0.26
R9472:Pcdhb17 UTSW 18 37,618,919 (GRCm39) missense probably damaging 1.00
R9617:Pcdhb17 UTSW 18 37,618,218 (GRCm39) missense probably benign
R9625:Pcdhb17 UTSW 18 37,619,419 (GRCm39) nonsense probably null
R9646:Pcdhb17 UTSW 18 37,618,471 (GRCm39) missense possibly damaging 0.64
X0062:Pcdhb17 UTSW 18 37,619,542 (GRCm39) missense probably benign
X0064:Pcdhb17 UTSW 18 37,619,484 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCTACTGTGAAGCAAACG -3'
(R):5'- CCCTCAGTTCAGCCTGAAATAC -3'

Sequencing Primer
(F):5'- CATGGATGTGCAATCTGAGAC -3'
(R):5'- GTTCAGCCTGAAATACCTCTAAAGGG -3'
Posted On 2020-07-28