Incidental Mutation 'R7097:Pcdhb17'
ID 550595
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 045189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7097 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37619566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 452 (N452T)
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 benign
Transcript: ENSMUST00000053856
AA Change: N452T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: N452T

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: 99.1%
Validation Efficiency 99% (75/76)
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
1700010I14Rik A G 17: 9,224,052 (GRCm39) N435S probably damaging Het
Aip A T 19: 4,165,381 (GRCm39) V195E probably benign Het
Amer3 A T 1: 34,627,869 (GRCm39) I703F probably benign Het
Amfr T C 8: 94,738,637 (GRCm39) E7G probably benign Het
Angel1 A G 12: 86,773,158 (GRCm39) S4P probably damaging Het
Atp2c1 A G 9: 105,341,850 (GRCm39) I146T probably damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Bahcc1 T C 11: 120,163,472 (GRCm39) V590A possibly damaging Het
Bcl6 A G 16: 23,791,364 (GRCm39) V330A possibly damaging Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Btaf1 C T 19: 36,926,502 (GRCm39) T58I probably damaging Het
Ccdc175 A T 12: 72,175,183 (GRCm39) probably null Het
Cdca4 C A 12: 112,785,189 (GRCm39) V180L probably benign Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Clec4g T A 8: 3,769,518 (GRCm39) T42S possibly damaging Het
Ctsg A C 14: 56,337,489 (GRCm39) I238S probably damaging Het
Cyb5rl A T 4: 106,944,513 (GRCm39) E41V unknown Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Dnaaf1 G T 8: 120,323,538 (GRCm39) G509V possibly damaging Het
Dnah5 A G 15: 28,453,410 (GRCm39) I4394V probably benign Het
Dot1l T G 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Dst T G 1: 34,208,341 (GRCm39) I1089S probably damaging Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Eps8l3 A G 3: 107,791,801 (GRCm39) probably null Het
Fam135b A G 15: 71,493,917 (GRCm39) V4A possibly damaging Het
Fnip2 T C 3: 79,388,313 (GRCm39) E806G probably benign Het
Fryl T A 5: 73,231,251 (GRCm39) I1609F probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Hecw2 T A 1: 53,904,283 (GRCm39) Y1155F possibly damaging Het
Kif20b T A 19: 34,951,892 (GRCm39) N1723K probably damaging Het
Kif2b T C 11: 91,467,650 (GRCm39) D211G probably benign Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Med16 C T 10: 79,739,177 (GRCm39) G203D probably damaging Het
Mrgpra3 T A 7: 47,239,389 (GRCm39) Y179F probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo18b A G 5: 113,022,271 (GRCm39) S374P unknown Het
Myoz1 A G 14: 20,699,477 (GRCm39) I287T possibly damaging Het
Ncoa6 T C 2: 155,279,983 (GRCm39) D11G probably benign Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nmur1 T C 1: 86,315,230 (GRCm39) T212A probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G T 2: 36,624,436 (GRCm39) M34I probably benign Het
Or1x2 C A 11: 50,918,428 (GRCm39) L200I probably benign Het
Or8c13 A T 9: 38,091,632 (GRCm39) C162* probably null Het
Pear1 T G 3: 87,658,752 (GRCm39) H901P probably benign Het
Peds1 C G 2: 167,503,398 (GRCm39) A7P probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pip5k1b T G 19: 24,335,424 (GRCm39) E362D probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prdm16 G T 4: 154,429,925 (GRCm39) T348K probably damaging Het
Prkdc T A 16: 15,507,207 (GRCm39) F896I probably damaging Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Ptpn14 G A 1: 189,595,595 (GRCm39) W739* probably null Het
Rfx5 G T 3: 94,863,850 (GRCm39) G135C probably damaging Het
Scmh1 A G 4: 120,382,252 (GRCm39) H573R probably benign Het
Serpina5 G T 12: 104,068,554 (GRCm39) probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Slc6a17 C G 3: 107,400,464 (GRCm39) G222R probably damaging Het
Sp110 C T 1: 85,507,406 (GRCm39) G367D possibly damaging Het
Srcap C A 7: 127,138,213 (GRCm39) L1128M probably damaging Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trav6-4 A T 14: 53,692,049 (GRCm39) Y52F probably benign Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Trub2 A G 2: 29,669,838 (GRCm39) V177A possibly damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Wnk2 C A 13: 49,256,314 (GRCm39) R269L possibly damaging Het
Zc3h12c T A 9: 52,027,226 (GRCm39) Q731L possibly 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
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
R8299:Pcdhb17 UTSW 18 37,618,408 (GRCm39) missense probably damaging 0.98
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'- TGATTGCCTCCATCGAAGAAG -3'
(R):5'- GAACAGCTGCCCATTGTCTG -3'

Sequencing Primer
(F):5'- CCTTTCTTCTAAAATCTTCAGGGAAG -3'
(R):5'- CCCATTGTCTGCGTTGATGGAG -3'
Posted On 2019-05-15