Incidental Mutation 'R1226:Pcdhb17'
ID 152256
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37620313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 701 (L701P)
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: L701P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: L701P

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: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
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
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'- TTCGTGCTCTACCCGATGCAGAAC -3'
(R):5'- ACTCACTGGTCCCAGAAGAATCGC -3'

Sequencing Primer
(F):5'- ACTTCTCAAGGCTACGGAGC -3'
(R):5'- GTCCCAGAAGAATCGCCCATC -3'
Posted On 2014-01-29