Incidental Mutation 'IGL03328:Pcdh17'
ID 416728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh17
Ensembl Gene ENSMUSG00000035566
Gene Name protocadherin 17
Synonyms C030033F14Rik, LOC219228
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL03328
Quality Score
Status
Chromosome 14
Chromosomal Location 84680626-84775005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84770551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1010 (I1010V)
Ref Sequence ENSEMBL: ENSMUSP00000071325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071370]
AlphaFold E9PXF0
Predicted Effect probably benign
Transcript: ENSMUST00000071370
AA Change: I1010V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: I1010V

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
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably 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
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
R5074:Pcdh17 UTSW 14 84,770,782 (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
Posted On 2016-08-02