Incidental Mutation 'R0939:Pcdh17'
ID 81332
Institutional Source Beutler Lab
Gene Symbol Pcdh17
Ensembl Gene ENSMUSG00000035566
Gene Name protocadherin 17
Synonyms C030033F14Rik, LOC219228
MMRRC Submission 039078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0939 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 84680626-84775005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84685195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 554 (D554G)
Ref Sequence ENSEMBL: ENSMUSP00000071325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071370]
AlphaFold E9PXF0
Predicted Effect probably damaging
Transcript: ENSMUST00000071370
AA Change: D554G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: D554G

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
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,902,969 (GRCm39) V419M probably damaging Het
Cdcp1 A G 9: 123,012,755 (GRCm39) V264A probably damaging Het
Cfap53 A G 18: 74,438,801 (GRCm39) D326G probably null Het
Dach1 A G 14: 98,153,360 (GRCm39) V436A probably damaging Het
Dnah11 C T 12: 118,024,142 (GRCm39) G1870S probably damaging Het
Dst C A 1: 34,283,464 (GRCm39) H5324N probably damaging Het
Eapp TTTCTTCTTCTTCTTCTT TTTCTTCTTCTTCTT 12: 54,732,734 (GRCm39) probably benign Het
Esd C A 14: 74,973,467 (GRCm39) H21N probably damaging Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Igdcc4 T A 9: 65,038,755 (GRCm39) probably null Het
Mug1 A T 6: 121,861,308 (GRCm39) I1310F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Or10a3b T A 7: 108,444,440 (GRCm39) Y259F probably damaging Het
Or10h5 T C 17: 33,434,635 (GRCm39) K231E possibly damaging Het
Or9g19 T A 2: 85,600,997 (GRCm39) L284* probably null Het
Plcxd3 T A 15: 4,546,344 (GRCm39) L116* probably null Het
Prss1 A C 6: 41,440,522 (GRCm39) D199A probably damaging Het
Rbms3 C T 9: 116,939,028 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rreb1 A G 13: 38,116,207 (GRCm39) M1189V probably benign Het
Slc25a39 T C 11: 102,295,877 (GRCm39) E118G probably damaging Het
Slfn5 G T 11: 82,852,164 (GRCm39) M763I probably benign Het
Speer4f2 A G 5: 17,579,402 (GRCm39) E67G probably damaging Het
Spef2 A T 15: 9,704,636 (GRCm39) probably null Het
Spocd1 A T 4: 129,842,663 (GRCm39) D26V possibly damaging Het
Ssh1 A G 5: 114,108,497 (GRCm39) L50P probably damaging Het
Tle1 A G 4: 72,036,771 (GRCm39) L728P probably damaging Het
Trio A G 15: 27,741,336 (GRCm39) probably null Het
Tubb1 G A 2: 174,297,549 (GRCm39) E53K probably damaging Het
Vmn2r71 A T 7: 85,272,889 (GRCm39) T568S 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
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
Predicted Primers PCR Primer
(F):5'- AATCCGCCTCGGTTCACCAAAG -3'
(R):5'- CGTTGCCATCCACGATCTCATAGG -3'

Sequencing Primer
(F):5'- AGGACTTTACGTGCTCCAAG -3'
(R):5'- CACGATCTCATAGGTGAGGC -3'
Posted On 2013-11-07