Incidental Mutation 'R7122:Pcdhb17'
ID 552115
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 045245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7122 (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: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,561,275 (GRCm39) E126V probably benign Het
Alg3 A T 16: 20,426,602 (GRCm39) L213H probably damaging Het
Atp1a4 T A 1: 172,059,503 (GRCm39) Y863F possibly damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Aup1 A G 6: 83,032,123 (GRCm39) T97A probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cdc42bpa T C 1: 179,892,583 (GRCm39) L249P probably damaging Het
Celsr3 A G 9: 108,705,766 (GRCm39) K750E possibly damaging 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
Csmd2 G A 4: 128,343,020 (GRCm39) V1471M Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
E4f1 G A 17: 24,663,808 (GRCm39) Q569* probably null Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw24 A T 9: 109,430,328 (GRCm39) C439S probably benign Het
Ftdc2 C A 16: 58,458,140 (GRCm39) A54S probably benign Het
Gmip C T 8: 70,270,452 (GRCm39) P721S probably benign Het
Grip1 A G 10: 119,871,279 (GRCm39) I669V possibly damaging Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Herc1 G T 9: 66,307,056 (GRCm39) A959S possibly damaging Het
Hic1 A G 11: 75,060,056 (GRCm39) V97A probably benign Het
Il11ra1 A G 4: 41,766,189 (GRCm39) Y242C probably damaging Het
Iqsec3 A C 6: 121,450,317 (GRCm39) V69G unknown Het
Jak3 T A 8: 72,138,601 (GRCm39) M933K probably damaging Het
Kbtbd7 G A 14: 79,665,757 (GRCm39) V530I probably damaging Het
Kif22 G A 7: 126,632,150 (GRCm39) R345C probably benign Het
Klhl7 G A 5: 24,343,433 (GRCm39) E250K probably damaging Het
Klk1b4 A G 7: 43,860,531 (GRCm39) H183R probably damaging Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Lhx5 T A 5: 120,574,410 (GRCm39) M238K probably benign Het
Lin28b A T 10: 45,345,244 (GRCm39) H27Q probably benign Het
Mgat4c A T 10: 102,214,070 (GRCm39) R18* probably null Het
Myct1 C A 10: 5,554,492 (GRCm39) H120N probably damaging Het
Nek1 A T 8: 61,559,829 (GRCm39) D984V probably benign Het
Nfu1 A T 6: 86,986,863 (GRCm39) probably benign Het
Nipsnap1 A T 11: 4,833,366 (GRCm39) probably null Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nrxn3 T A 12: 89,477,377 (GRCm39) M520K 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
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G A 2: 36,624,436 (GRCm39) M34I probably benign Het
Or2a5 T C 6: 42,874,024 (GRCm39) V213A probably damaging Het
Or52n5 T C 7: 104,588,405 (GRCm39) L224P probably damaging Het
Otogl C T 10: 107,702,515 (GRCm39) A713T probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Plpp4 G T 7: 128,981,207 (GRCm39) V153F unknown Het
Plxna2 C A 1: 194,326,876 (GRCm39) S270* probably null Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Ptpn21 C T 12: 98,655,171 (GRCm39) V599I probably damaging Het
Rab26 C A 17: 24,749,652 (GRCm39) R131L probably damaging Het
Raph1 A T 1: 60,565,136 (GRCm39) V117D probably benign Het
Sacs T C 14: 61,447,845 (GRCm39) V3297A probably damaging Het
Serpine1 C A 5: 137,095,796 (GRCm39) A262S probably benign Het
Sgf29 A G 7: 126,271,221 (GRCm39) D193G probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Sipa1l1 T C 12: 82,469,236 (GRCm39) V1245A possibly damaging Het
Slc22a7 A G 17: 46,749,224 (GRCm39) L31P probably damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Slc26a7 A T 4: 14,533,639 (GRCm39) Y395N probably damaging Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Susd1 G A 4: 59,411,318 (GRCm39) R225* probably null Het
Suz12 T A 11: 79,884,419 (GRCm39) F92I probably damaging Het
Tmem114 C A 16: 8,242,610 (GRCm39) probably benign Het
Tmem68 A G 4: 3,564,107 (GRCm39) V159A probably benign Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trim45 A G 3: 100,839,353 (GRCm39) T752A unknown Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Vmn2r39 T G 7: 9,017,761 (GRCm39) K858N possibly damaging Het
Zfp629 A T 7: 127,210,484 (GRCm39) S442T 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
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'- AAAATGATTGCCTCCATCGAAG -3'
(R):5'- AACAGCTGCCCATTGTCTG -3'

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