Incidental Mutation 'R5541:Pcdh17'
ID 435988
Institutional Source Beutler Lab
Gene Symbol Pcdh17
Ensembl Gene ENSMUSG00000035566
Gene Name protocadherin 17
Synonyms C030033F14Rik, LOC219228
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 84680626-84775005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84684856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 441 (V441E)
Ref Sequence ENSEMBL: ENSMUSP00000071325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071370]
AlphaFold E9PXF0
Predicted Effect probably damaging
Transcript: ENSMUST00000071370
AA Change: V441E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071325
Gene: ENSMUSG00000035566
AA Change: V441E

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
Meta Mutation Damage Score 0.1306 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V 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
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
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
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'- GAATGGGCAGCTTCAGTGTC -3'
(R):5'- AATAGACACGTCGCCGATG -3'

Sequencing Primer
(F):5'- CAGCTTCAGTGTCGGGTTC -3'
(R):5'- AATGGAGTATGACACTGTCCC -3'
Posted On 2016-10-24