Incidental Mutation 'R5074:Pcdh17'
ID 386876
Institutional Source Beutler Lab
Gene Symbol Pcdh17
Ensembl Gene ENSMUSG00000035566
Gene Name protocadherin 17
Synonyms C030033F14Rik, LOC219228
MMRRC Submission 042663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5074 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 84680626-84775005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84770782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1087 (S1087P)
Ref Sequence ENSEMBL: ENSMUSP00000071325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071370]
AlphaFold E9PXF0
Predicted Effect probably benign
Transcript: ENSMUST00000071370
AA Change: S1087P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: S1087P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CA 54 131 6.8e-4 SMART
CA 155 242 8.81e-21 SMART
CA 266 350 8.27e-26 SMART
CA 375 468 9.14e-28 SMART
CA 492 579 8.4e-27 SMART
CA 608 687 2.53e-12 SMART
low complexity region 703 725 N/A INTRINSIC
low complexity region 751 759 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic transmission, increased synaptic vesicle number and decreased depression-related behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,482 (GRCm39) H143Q probably benign Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Ampd2 A T 3: 107,986,549 (GRCm39) M245K probably damaging Het
Apob G A 12: 8,055,219 (GRCm39) probably null Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Aqp1 A T 6: 55,322,520 (GRCm39) I172F probably damaging Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdc25a T A 9: 109,713,208 (GRCm39) C227S possibly damaging Het
Ces1a A G 8: 93,759,303 (GRCm39) S278P possibly damaging Het
Cfap65 A T 1: 74,962,137 (GRCm39) S695T probably benign Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Ctps1 A T 4: 120,411,170 (GRCm39) L282Q probably damaging Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Dennd3 G A 15: 73,419,144 (GRCm39) R645H probably damaging Het
Dnaaf5 G T 5: 139,159,962 (GRCm39) R620L probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Dnah9 A G 11: 65,740,866 (GRCm39) F4107L probably damaging Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dst A C 1: 34,334,344 (GRCm39) K4857N probably damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Enpep T A 3: 129,097,404 (GRCm39) Q409L probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hibadh C T 6: 52,597,079 (GRCm39) V122M possibly damaging Het
Hsd3b3 T C 3: 98,649,340 (GRCm39) T328A possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Itga10 C T 3: 96,559,527 (GRCm39) Q475* probably null Het
Itga6 T A 2: 71,656,779 (GRCm39) D344E probably benign Het
Kcnmb4 T C 10: 116,309,102 (GRCm39) T109A probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Lrrc66 G A 5: 73,765,354 (GRCm39) P563L probably damaging Het
Mamdc2 T C 19: 23,356,160 (GRCm39) D96G probably benign Het
Map3k12 A T 15: 102,410,267 (GRCm39) probably null Het
Mc3r A T 2: 172,091,533 (GRCm39) I252F possibly damaging Het
Metrn C T 17: 26,015,613 (GRCm39) G34D probably damaging Het
Mipep A G 14: 61,046,462 (GRCm39) E328G probably benign Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc5b A T 7: 141,412,999 (GRCm39) T1982S unknown Het
Myh8 A T 11: 67,196,742 (GRCm39) T1792S possibly damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo5a T A 9: 75,081,438 (GRCm39) S1008T probably benign Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Nup210 T A 6: 91,032,309 (GRCm39) I20F probably benign Het
Odad1 T A 7: 45,578,514 (GRCm39) M29K probably benign Het
Or10ak12 A C 4: 118,666,057 (GRCm39) W319G possibly damaging Het
Or10p21 T C 10: 128,847,213 (GRCm39) Y20H possibly damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52e8b A T 7: 104,673,260 (GRCm39) M309K probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or7h8 A T 9: 20,123,878 (GRCm39) I78F possibly damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Papolg G A 11: 23,817,331 (GRCm39) T153I possibly damaging Het
Pappa A G 4: 65,123,365 (GRCm39) H900R probably benign Het
Phf11a T G 14: 59,521,849 (GRCm39) L107F possibly damaging Het
Phlpp2 A T 8: 110,652,461 (GRCm39) I602F probably damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prkaa1 G T 15: 5,206,392 (GRCm39) R416L possibly damaging Het
Prkdc C A 16: 15,589,912 (GRCm39) R2592S probably damaging Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Prodh A T 16: 17,895,653 (GRCm39) probably null Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Riox2 T C 16: 59,312,236 (GRCm39) S458P possibly damaging Het
Rnase4 T C 14: 51,342,702 (GRCm39) V142A possibly damaging Het
Rnf138 A G 18: 21,159,204 (GRCm39) N244S probably benign Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Sfxn4 C T 19: 60,839,450 (GRCm39) V203M probably damaging Het
Skor2 G T 18: 76,946,649 (GRCm39) E124* probably null Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spag17 T A 3: 99,987,434 (GRCm39) Y1575N possibly damaging Het
St8sia4 G A 1: 95,594,910 (GRCm39) A26V probably benign Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Tgm1 A G 14: 55,947,392 (GRCm39) V323A probably damaging Het
Tmco4 A G 4: 138,785,433 (GRCm39) H501R probably damaging Het
Tob1 A T 11: 94,104,567 (GRCm39) R34S possibly damaging Het
Trhr2 C T 8: 123,084,110 (GRCm39) V297I probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Trpm3 T C 19: 22,862,713 (GRCm39) V485A possibly damaging Het
Trrap T C 5: 144,787,989 (GRCm39) I3518T probably damaging Het
Ttc27 T C 17: 75,054,750 (GRCm39) L352P probably damaging Het
Ush1g A G 11: 115,209,123 (GRCm39) L357P possibly damaging Het
Usp24 A G 4: 106,277,644 (GRCm39) H2258R probably benign Het
Vcam1 A G 3: 115,918,037 (GRCm39) V308A probably damaging Het
Vdr A G 15: 97,755,459 (GRCm39) S355P probably benign Het
Vldlr T C 19: 27,215,677 (GRCm39) S184P probably damaging Het
Xpo4 C A 14: 57,822,098 (GRCm39) A1073S probably benign Het
Zfand2b A G 1: 75,147,634 (GRCm39) D224G probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Other mutations in Pcdh17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Pcdh17 APN 14 84,684,984 (GRCm39) missense probably damaging 1.00
IGL00902:Pcdh17 APN 14 84,684,289 (GRCm39) missense probably damaging 1.00
IGL01596:Pcdh17 APN 14 84,685,632 (GRCm39) missense probably damaging 1.00
IGL01665:Pcdh17 APN 14 84,684,442 (GRCm39) missense probably damaging 0.99
IGL01944:Pcdh17 APN 14 84,684,961 (GRCm39) missense probably damaging 0.98
IGL01944:Pcdh17 APN 14 84,684,960 (GRCm39) missense probably benign 0.01
IGL01977:Pcdh17 APN 14 84,770,537 (GRCm39) missense possibly damaging 0.49
IGL01988:Pcdh17 APN 14 84,684,062 (GRCm39) missense probably damaging 1.00
IGL02168:Pcdh17 APN 14 84,770,635 (GRCm39) missense probably benign 0.19
IGL02500:Pcdh17 APN 14 84,770,909 (GRCm39) missense probably benign 0.17
IGL02874:Pcdh17 APN 14 84,685,680 (GRCm39) missense possibly damaging 0.71
IGL02882:Pcdh17 APN 14 84,684,101 (GRCm39) missense probably damaging 0.98
IGL02941:Pcdh17 APN 14 84,685,747 (GRCm39) missense probably damaging 1.00
IGL03328:Pcdh17 APN 14 84,770,551 (GRCm39) missense probably benign
R0226_Pcdh17_958 UTSW 14 84,685,641 (GRCm39) missense probably damaging 0.99
R3405_Pcdh17_345 UTSW 14 84,684,062 (GRCm39) missense probably damaging 1.00
PIT4151001:Pcdh17 UTSW 14 84,684,798 (GRCm39) missense probably benign 0.05
R0226:Pcdh17 UTSW 14 84,685,641 (GRCm39) missense probably damaging 0.99
R0537:Pcdh17 UTSW 14 84,684,897 (GRCm39) missense probably damaging 1.00
R0647:Pcdh17 UTSW 14 84,685,213 (GRCm39) missense possibly damaging 0.58
R0939:Pcdh17 UTSW 14 84,685,195 (GRCm39) missense probably damaging 1.00
R1014:Pcdh17 UTSW 14 84,684,928 (GRCm39) missense probably damaging 1.00
R1753:Pcdh17 UTSW 14 84,715,094 (GRCm39) missense probably benign 0.17
R3404:Pcdh17 UTSW 14 84,684,062 (GRCm39) missense probably damaging 1.00
R3405:Pcdh17 UTSW 14 84,684,062 (GRCm39) missense probably damaging 1.00
R3406:Pcdh17 UTSW 14 84,684,062 (GRCm39) missense probably damaging 1.00
R3746:Pcdh17 UTSW 14 84,770,477 (GRCm39) missense probably benign 0.02
R3852:Pcdh17 UTSW 14 84,684,699 (GRCm39) nonsense probably null
R4015:Pcdh17 UTSW 14 84,684,547 (GRCm39) missense probably damaging 0.99
R4348:Pcdh17 UTSW 14 84,685,060 (GRCm39) missense probably damaging 0.97
R4365:Pcdh17 UTSW 14 84,685,726 (GRCm39) missense probably damaging 0.97
R4375:Pcdh17 UTSW 14 84,685,711 (GRCm39) missense possibly damaging 0.80
R4693:Pcdh17 UTSW 14 84,770,960 (GRCm39) missense probably damaging 1.00
R4811:Pcdh17 UTSW 14 84,685,375 (GRCm39) missense probably damaging 1.00
R5007:Pcdh17 UTSW 14 84,770,737 (GRCm39) missense probably benign
R5080:Pcdh17 UTSW 14 84,770,750 (GRCm39) missense probably benign 0.01
R5138:Pcdh17 UTSW 14 84,684,649 (GRCm39) missense probably damaging 1.00
R5330:Pcdh17 UTSW 14 84,770,486 (GRCm39) missense probably damaging 1.00
R5541:Pcdh17 UTSW 14 84,684,856 (GRCm39) missense probably damaging 0.97
R5686:Pcdh17 UTSW 14 84,770,433 (GRCm39) missense probably damaging 1.00
R5692:Pcdh17 UTSW 14 84,685,980 (GRCm39) missense probably benign 0.22
R5695:Pcdh17 UTSW 14 84,683,800 (GRCm39) missense probably damaging 1.00
R5949:Pcdh17 UTSW 14 84,684,996 (GRCm39) missense probably damaging 1.00
R6127:Pcdh17 UTSW 14 84,770,500 (GRCm39) missense probably damaging 0.96
R6294:Pcdh17 UTSW 14 84,715,108 (GRCm39) missense probably benign 0.01
R6508:Pcdh17 UTSW 14 84,685,419 (GRCm39) missense probably damaging 1.00
R6726:Pcdh17 UTSW 14 84,683,657 (GRCm39) missense probably damaging 1.00
R7094:Pcdh17 UTSW 14 84,684,835 (GRCm39) missense probably damaging 1.00
R7137:Pcdh17 UTSW 14 84,770,989 (GRCm39) missense possibly damaging 0.65
R7828:Pcdh17 UTSW 14 84,770,425 (GRCm39) missense probably damaging 0.99
R7904:Pcdh17 UTSW 14 84,685,924 (GRCm39) missense possibly damaging 0.94
R8507:Pcdh17 UTSW 14 84,683,384 (GRCm39) start gained probably benign
R9069:Pcdh17 UTSW 14 84,685,084 (GRCm39) missense possibly damaging 0.58
R9239:Pcdh17 UTSW 14 84,770,649 (GRCm39) missense probably benign 0.45
R9283:Pcdh17 UTSW 14 84,685,593 (GRCm39) missense possibly damaging 0.78
R9382:Pcdh17 UTSW 14 84,685,522 (GRCm39) missense probably damaging 1.00
R9402:Pcdh17 UTSW 14 84,684,646 (GRCm39) missense probably damaging 1.00
R9459:Pcdh17 UTSW 14 84,686,063 (GRCm39) missense probably benign 0.00
R9548:Pcdh17 UTSW 14 84,685,402 (GRCm39) missense possibly damaging 0.67
R9560:Pcdh17 UTSW 14 84,770,898 (GRCm39) missense probably benign 0.00
R9777:Pcdh17 UTSW 14 84,683,683 (GRCm39) missense probably benign 0.00
R9792:Pcdh17 UTSW 14 84,770,350 (GRCm39) nonsense probably null
R9793:Pcdh17 UTSW 14 84,770,350 (GRCm39) nonsense probably null
R9794:Pcdh17 UTSW 14 84,770,350 (GRCm39) nonsense probably null
R9795:Pcdh17 UTSW 14 84,770,350 (GRCm39) nonsense probably null
X0025:Pcdh17 UTSW 14 84,684,002 (GRCm39) missense possibly damaging 0.86
X0026:Pcdh17 UTSW 14 84,770,537 (GRCm39) missense possibly damaging 0.49
X0027:Pcdh17 UTSW 14 84,685,750 (GRCm39) missense possibly damaging 0.80
Z1088:Pcdh17 UTSW 14 84,685,714 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TAAAAGCCAAACGTGCCCTGAG -3'
(R):5'- ACAGCCACAGGGTCATTTC -3'

Sequencing Primer
(F):5'- TGAGCCCTCTCCTCCAAGAG -3'
(R):5'- CAGTCCTGCAAGAGCTTATCAATCTC -3'
Posted On 2016-06-06