Incidental Mutation 'IGL00336:Pcdh17'
ID 4149
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: 0.122) question?
Stock # IGL00336
Quality Score
Status
Chromosome 14
Chromosomal Location 84443563-84539002 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84447544 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 484 (I484F)
Ref Sequence ENSEMBL: ENSMUSP00000071325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071370]
AlphaFold E9PXF0
Predicted Effect probably damaging
Transcript: ENSMUST00000071370
AA Change: I484F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: I484F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226362
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Pcdh17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Pcdh17 APN 14 84446849 missense probably damaging 1.00
IGL01596:Pcdh17 APN 14 84448192 missense probably damaging 1.00
IGL01665:Pcdh17 APN 14 84447002 missense probably damaging 0.99
IGL01944:Pcdh17 APN 14 84447520 missense probably benign 0.01
IGL01944:Pcdh17 APN 14 84447521 missense probably damaging 0.98
IGL01977:Pcdh17 APN 14 84533097 missense possibly damaging 0.49
IGL01988:Pcdh17 APN 14 84446622 missense probably damaging 1.00
IGL02168:Pcdh17 APN 14 84533195 missense probably benign 0.19
IGL02500:Pcdh17 APN 14 84533469 missense probably benign 0.17
IGL02874:Pcdh17 APN 14 84448240 missense possibly damaging 0.71
IGL02882:Pcdh17 APN 14 84446661 missense probably damaging 0.98
IGL02941:Pcdh17 APN 14 84448307 missense probably damaging 1.00
IGL03328:Pcdh17 APN 14 84533111 missense probably benign
R0226_Pcdh17_958 UTSW 14 84448201 missense probably damaging 0.99
R3405_Pcdh17_345 UTSW 14 84446622 missense probably damaging 1.00
PIT4151001:Pcdh17 UTSW 14 84447358 missense probably benign 0.05
R0226:Pcdh17 UTSW 14 84448201 missense probably damaging 0.99
R0537:Pcdh17 UTSW 14 84447457 missense probably damaging 1.00
R0647:Pcdh17 UTSW 14 84447773 missense possibly damaging 0.58
R0939:Pcdh17 UTSW 14 84447755 missense probably damaging 1.00
R1014:Pcdh17 UTSW 14 84447488 missense probably damaging 1.00
R1753:Pcdh17 UTSW 14 84477654 missense probably benign 0.17
R3404:Pcdh17 UTSW 14 84446622 missense probably damaging 1.00
R3405:Pcdh17 UTSW 14 84446622 missense probably damaging 1.00
R3406:Pcdh17 UTSW 14 84446622 missense probably damaging 1.00
R3746:Pcdh17 UTSW 14 84533037 missense probably benign 0.02
R3852:Pcdh17 UTSW 14 84447259 nonsense probably null
R4015:Pcdh17 UTSW 14 84447107 missense probably damaging 0.99
R4348:Pcdh17 UTSW 14 84447620 missense probably damaging 0.97
R4365:Pcdh17 UTSW 14 84448286 missense probably damaging 0.97
R4375:Pcdh17 UTSW 14 84448271 missense possibly damaging 0.80
R4693:Pcdh17 UTSW 14 84533520 missense probably damaging 1.00
R4811:Pcdh17 UTSW 14 84447935 missense probably damaging 1.00
R5007:Pcdh17 UTSW 14 84533297 missense probably benign
R5074:Pcdh17 UTSW 14 84533342 missense probably benign
R5080:Pcdh17 UTSW 14 84533310 missense probably benign 0.01
R5138:Pcdh17 UTSW 14 84447209 missense probably damaging 1.00
R5330:Pcdh17 UTSW 14 84533046 missense probably damaging 1.00
R5541:Pcdh17 UTSW 14 84447416 missense probably damaging 0.97
R5686:Pcdh17 UTSW 14 84532993 missense probably damaging 1.00
R5692:Pcdh17 UTSW 14 84448540 missense probably benign 0.22
R5695:Pcdh17 UTSW 14 84446360 missense probably damaging 1.00
R5949:Pcdh17 UTSW 14 84447556 missense probably damaging 1.00
R6127:Pcdh17 UTSW 14 84533060 missense probably damaging 0.96
R6294:Pcdh17 UTSW 14 84477668 missense probably benign 0.01
R6508:Pcdh17 UTSW 14 84447979 missense probably damaging 1.00
R6726:Pcdh17 UTSW 14 84446217 missense probably damaging 1.00
R7094:Pcdh17 UTSW 14 84447395 missense probably damaging 1.00
R7137:Pcdh17 UTSW 14 84533549 missense possibly damaging 0.65
R7828:Pcdh17 UTSW 14 84532985 missense probably damaging 0.99
R7904:Pcdh17 UTSW 14 84448484 missense possibly damaging 0.94
R8507:Pcdh17 UTSW 14 84445944 start gained probably benign
R9069:Pcdh17 UTSW 14 84447644 missense possibly damaging 0.58
R9239:Pcdh17 UTSW 14 84533209 missense probably benign 0.45
R9283:Pcdh17 UTSW 14 84448153 missense possibly damaging 0.78
R9382:Pcdh17 UTSW 14 84448082 missense probably damaging 1.00
R9402:Pcdh17 UTSW 14 84447206 missense probably damaging 1.00
R9459:Pcdh17 UTSW 14 84448623 missense probably benign 0.00
R9548:Pcdh17 UTSW 14 84447962 missense possibly damaging 0.67
R9560:Pcdh17 UTSW 14 84533458 missense probably benign 0.00
R9777:Pcdh17 UTSW 14 84446243 missense probably benign 0.00
R9792:Pcdh17 UTSW 14 84532910 nonsense probably null
R9793:Pcdh17 UTSW 14 84532910 nonsense probably null
R9794:Pcdh17 UTSW 14 84532910 nonsense probably null
R9795:Pcdh17 UTSW 14 84532910 nonsense probably null
X0025:Pcdh17 UTSW 14 84446562 missense possibly damaging 0.86
X0026:Pcdh17 UTSW 14 84533097 missense possibly damaging 0.49
X0027:Pcdh17 UTSW 14 84448310 missense possibly damaging 0.80
Z1088:Pcdh17 UTSW 14 84448274 missense possibly damaging 0.68
Posted On 2012-04-20