Incidental Mutation 'R1750:Pcdhb17'
ID 193471
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 039782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1750 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37620070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 620 (H620R)
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 possibly damaging
Transcript: ENSMUST00000053856
AA Change: H620R

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: H620R

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: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G T 7: 130,747,859 (GRCm39) N44K probably benign Het
Acd C A 8: 106,425,524 (GRCm39) A270S possibly damaging Het
Acnat1 G A 4: 49,451,042 (GRCm39) T23I probably benign Het
Adam26a T G 8: 44,023,226 (GRCm39) E88A possibly damaging Het
Adgrb1 G A 15: 74,413,676 (GRCm39) V589M probably benign Het
Agbl2 T A 2: 90,646,720 (GRCm39) probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Asap2 T C 12: 21,253,999 (GRCm39) L170P probably damaging Het
Btg2 T C 1: 134,006,769 (GRCm39) D8G probably benign Het
Cacna1g A T 11: 94,334,118 (GRCm39) V841E probably damaging Het
Cacna2d1 C T 5: 16,469,286 (GRCm39) P230L probably benign Het
Cacna2d2 A T 9: 107,401,843 (GRCm39) D766V probably damaging Het
Carns1 A G 19: 4,223,156 (GRCm39) W23R possibly damaging Het
Cdk11b T A 4: 155,713,137 (GRCm39) probably null Het
Chrna3 T C 9: 54,923,341 (GRCm39) S156G probably damaging Het
Cmya5 A T 13: 93,232,171 (GRCm39) N972K probably benign Het
Cpne7 C A 8: 123,861,263 (GRCm39) P541T probably damaging Het
Cracd A G 5: 77,005,522 (GRCm39) I628V unknown Het
Csmd1 A T 8: 15,967,303 (GRCm39) L3187I probably damaging Het
Dbt A G 3: 116,339,943 (GRCm39) I404V probably benign Het
Dgki A T 6: 36,893,369 (GRCm39) I819K probably damaging Het
Dip2b T A 15: 100,076,347 (GRCm39) S782T probably benign Het
Dlc1 A T 8: 37,325,244 (GRCm39) probably null Het
Dnajc13 A T 9: 104,098,676 (GRCm39) V459E probably damaging Het
Enam A G 5: 88,651,086 (GRCm39) E790G probably damaging Het
Epb41l4a G C 18: 33,961,261 (GRCm39) Y424* probably null Het
Extl1 A G 4: 134,089,999 (GRCm39) S370P probably benign Het
Fan1 T C 7: 64,022,761 (GRCm39) Y164C probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fbxw25 A T 9: 109,479,141 (GRCm39) I370N probably benign Het
Fcgbp T A 7: 27,792,868 (GRCm39) Y957* probably null Het
Gkap1 C A 13: 58,384,857 (GRCm39) E77* probably null Het
Gkn1 A T 6: 87,326,105 (GRCm39) N28K unknown Het
Gls2 A G 10: 128,037,194 (GRCm39) E245G probably damaging Het
Glyat G A 19: 12,623,679 (GRCm39) V32I probably benign Het
Gm2431 A T 7: 141,811,762 (GRCm39) C47* probably null Het
Gm5431 T C 11: 48,785,658 (GRCm39) D239G probably benign Het
Ift70a1 C T 2: 75,810,599 (GRCm39) V495I probably benign Het
Inpp5d T C 1: 87,626,803 (GRCm39) F540L probably damaging Het
Kcna1 A C 6: 126,619,771 (GRCm39) I183S probably benign Het
Kpna2 G T 11: 106,882,271 (GRCm39) L212I probably damaging Het
Krt36 C G 11: 99,994,884 (GRCm39) R229S probably benign Het
Krt78 G A 15: 101,854,812 (GRCm39) H1000Y probably benign Het
Krt90 A G 15: 101,461,800 (GRCm39) probably benign Het
Ldlrad4 C A 18: 68,239,758 (GRCm39) F59L probably benign Het
Lrrc3b T C 14: 15,358,601 (GRCm38) N2D probably benign Het
Madd T C 2: 90,998,236 (GRCm39) D239G probably damaging Het
Mapk8ip3 C T 17: 25,133,433 (GRCm39) G332S probably null Het
Mastl A T 2: 23,036,093 (GRCm39) L141* probably null Het
Mdh1b T C 1: 63,758,681 (GRCm39) N304D probably benign Het
Mfsd4b3-ps G T 10: 39,823,929 (GRCm39) N110K probably benign Het
Mtus2 T C 5: 148,214,443 (GRCm39) S1035P probably damaging Het
Muc21 T A 17: 35,931,940 (GRCm39) probably benign Het
Myh11 T A 16: 14,018,622 (GRCm39) D1908V probably damaging Het
Myh11 T C 16: 14,033,654 (GRCm39) E1080G probably damaging Het
Mypn A C 10: 62,971,976 (GRCm39) M688R probably benign Het
Nat8l G T 5: 34,158,130 (GRCm39) C180F probably damaging Het
Nip7 T A 8: 107,784,018 (GRCm39) L86Q probably damaging Het
Nisch C T 14: 30,896,839 (GRCm39) probably benign Het
Nop2 A G 6: 125,114,601 (GRCm39) I283V probably benign Het
Oas1h T A 5: 121,009,840 (GRCm39) probably null Het
Or10ag56 T C 2: 87,139,196 (GRCm39) V41A probably benign Het
Or2g25 A C 17: 37,970,564 (GRCm39) I220S probably damaging Het
Or4c101 C A 2: 88,390,402 (GRCm39) D185E possibly damaging Het
Or4c104 T C 2: 88,586,117 (GRCm39) R301G probably benign Het
Or56b1b A T 7: 108,164,564 (GRCm39) L146* probably null Het
Or5w17 T A 2: 87,583,530 (GRCm39) D269V probably damaging Het
Or8b42 T A 9: 38,341,986 (GRCm39) M136K probably damaging Het
P4hb A G 11: 120,453,546 (GRCm39) V373A probably damaging Het
Pappa2 C A 1: 158,590,720 (GRCm39) E1645* probably null Het
Pcdh10 G T 3: 45,336,316 (GRCm39) E877* probably null Het
Pdcl3 T A 1: 39,034,946 (GRCm39) F168I probably damaging Het
Pde4a T A 9: 21,114,528 (GRCm39) I365N probably damaging Het
Pdzd2 A G 15: 12,385,950 (GRCm39) V940A probably damaging Het
Picalm T A 7: 89,840,390 (GRCm39) S399T possibly damaging Het
Pigk A T 3: 152,450,101 (GRCm39) I249F probably damaging Het
Plxnb1 C A 9: 108,940,836 (GRCm39) H1570Q probably benign Het
Plxnc1 A G 10: 94,635,359 (GRCm39) Y1321H probably damaging Het
Ppm1g G A 5: 31,363,560 (GRCm39) S114F probably damaging Het
Rassf4 A G 6: 116,617,228 (GRCm39) M259T probably damaging Het
Rbm47 T C 5: 66,176,653 (GRCm39) K557E possibly damaging Het
Rhobtb1 A G 10: 69,115,236 (GRCm39) K21R probably damaging Het
Selenoi T C 5: 30,462,771 (GRCm39) F212S probably benign Het
Shc3 T G 13: 51,603,328 (GRCm39) Y259S probably damaging Het
Skic3 T A 13: 76,288,720 (GRCm39) L951Q possibly damaging Het
Slc11a2 T C 15: 100,299,168 (GRCm39) N134S probably damaging Het
Slc9a7 A T X: 20,028,717 (GRCm39) M368K probably damaging Het
Slx4ip T A 2: 136,888,669 (GRCm39) C117S probably damaging Het
Spata31d1d T A 13: 59,876,509 (GRCm39) Q342L probably benign Het
Spink13 T A 18: 62,740,820 (GRCm39) Y93F probably damaging Het
St6galnac5 A T 3: 152,551,958 (GRCm39) I203N possibly damaging Het
Syne2 T A 12: 76,099,579 (GRCm39) C5335S probably damaging Het
Tagap T A 17: 8,148,742 (GRCm39) D173E probably benign Het
Tekt3 A C 11: 62,960,867 (GRCm39) Y12S probably damaging Het
Tmem81 T A 1: 132,435,321 (GRCm39) N42K probably damaging Het
Tnc A G 4: 63,890,972 (GRCm39) W1728R probably damaging Het
Ttc33 C T 15: 5,241,579 (GRCm39) R135* probably null Het
Unc5c A G 3: 141,533,278 (GRCm39) D842G possibly damaging Het
Usp43 A T 11: 67,770,779 (GRCm39) H618Q probably damaging Het
Vmn2r50 T G 7: 9,786,915 (GRCm39) N64T possibly damaging Het
Vmn2r53 T C 7: 12,315,632 (GRCm39) Y729C probably damaging Het
Vmn2r59 T A 7: 41,695,251 (GRCm39) H387L possibly damaging Het
Vstm2a G T 11: 16,213,166 (GRCm39) V184F possibly damaging Het
Wdr53 T G 16: 32,070,935 (GRCm39) N93K probably damaging Het
Wdr95 A G 5: 149,505,351 (GRCm39) probably null Het
Xpot A T 10: 121,438,932 (GRCm39) probably null Het
Xrcc5 C T 1: 72,364,246 (GRCm39) Q233* probably null Het
Zbtb18 T A 1: 177,275,077 (GRCm39) C137S possibly damaging Het
Zfp58 C A 13: 67,639,598 (GRCm39) G298* probably null Het
Zfp963 A G 8: 70,196,100 (GRCm39) S118P possibly damaging Het
Zmynd15 A T 11: 70,353,393 (GRCm39) Q336L 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
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 37,618,764 (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'- AAGACACAGATGCCAAGGCTATGAC -3'

Sequencing Primer
(F):5'- AGAACTCCTCTGCGCCTTG -3'
(R):5'- CAGATACAGTGTTAGAGCGTCCTC -3'
Posted On 2014-05-23