Incidental Mutation 'IGL02095:Pcdh18'
ID279589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh18
Ensembl Gene ENSMUSG00000037892
Gene Nameprotocadherin 18
SynonymsPCDH68L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02095
Quality Score
Status
Chromosome3
Chromosomal Location49743296-49757325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49756156 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 237 (S237T)
Ref Sequence ENSEMBL: ENSMUSP00000141995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]
Predicted Effect probably benign
Transcript: ENSMUST00000035931
AA Change: S237T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: S237T

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
CA 51 135 1.36e-1 SMART
CA 159 244 3.78e-20 SMART
CA 268 352 1.12e-22 SMART
CA 382 463 5.76e-25 SMART
CA 487 574 2.51e-25 SMART
CA 603 684 8e-3 SMART
transmembrane domain 698 720 N/A INTRINSIC
low complexity region 772 783 N/A INTRINSIC
low complexity region 988 1009 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191794
AA Change: S237T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: S237T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
CA 51 135 6.6e-4 SMART
CA 159 244 1.9e-22 SMART
CA 268 352 5.6e-25 SMART
CA 382 463 2.7e-27 SMART
CA 487 574 1.2e-27 SMART
CA 603 684 3.9e-5 SMART
transmembrane domain 698 720 N/A INTRINSIC
low complexity region 772 783 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193600
Predicted Effect probably benign
Transcript: ENSMUST00000194603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195086
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,626 Q794L probably benign Het
Acrbp C A 6: 125,053,956 Y313* probably null Het
Adam9 A G 8: 24,996,729 S178P probably benign Het
Adgrv1 T C 13: 81,579,790 I244V possibly damaging Het
Atad5 A G 11: 80,094,707 S207G probably benign Het
Atp10a A G 7: 58,807,393 D880G probably damaging Het
Cadps2 A G 6: 23,427,310 I573T probably benign Het
Camsap3 A G 8: 3,603,845 D494G probably damaging Het
Cbfa2t3 T C 8: 122,633,493 E438G probably damaging Het
Cisd2 T C 3: 135,411,219 D37G possibly damaging Het
Cndp2 T C 18: 84,681,032 E36G possibly damaging Het
Ddx54 G A 5: 120,623,791 G544D possibly damaging Het
Dok2 G T 14: 70,777,861 G343W possibly damaging Het
Dscaml1 A G 9: 45,447,703 N87D probably damaging Het
Ehf T C 2: 103,266,991 Y237C probably damaging Het
Exoc3 T C 13: 74,180,536 T569A probably damaging Het
Fam151a T C 4: 106,747,875 V478A probably damaging Het
Fam227b T A 2: 126,101,004 H291L probably damaging Het
Fmn2 A G 1: 174,502,601 T186A unknown Het
Ggnbp2 T C 11: 84,833,128 Y660C probably damaging Het
Ggt5 G A 10: 75,608,803 M318I probably benign Het
Gprc5d A G 6: 135,116,177 I244T probably damaging Het
Gucy2e A G 11: 69,232,787 S429P possibly damaging Het
Igf2r T C 17: 12,702,005 D1341G probably damaging Het
Kcnq4 T C 4: 120,700,027 probably benign Het
Krt40 T C 11: 99,541,671 D173G probably damaging Het
Lrrc27 C T 7: 139,230,253 T380I probably benign Het
Lrrc4c A G 2: 97,629,404 N125S probably benign Het
Mtor C T 4: 148,544,541 R2217C probably damaging Het
Nfrkb C T 9: 31,411,231 R866W probably damaging Het
Olfr1424 C A 19: 12,059,549 V68F probably benign Het
Olfr982 T A 9: 40,074,671 Y125* probably null Het
P2ry6 T A 7: 100,938,864 D96V probably damaging Het
Pck2 G A 14: 55,542,510 R72Q probably benign Het
Pik3c2a C T 7: 116,346,188 R1461Q probably damaging Het
Polr3a A G 14: 24,454,610 V1130A possibly damaging Het
Ppm1d T A 11: 85,327,006 D198E probably benign Het
Rasa1 T A 13: 85,216,155 E1022D probably benign Het
Rbm25 T C 12: 83,671,974 Y507H probably damaging Het
Rbm26 A T 14: 105,144,260 I488K probably damaging Het
Ryr2 T A 13: 11,759,759 E1170D probably damaging Het
Sdk2 T G 11: 113,834,830 T1198P probably damaging Het
Sema3g C T 14: 31,227,824 T654I probably benign Het
Spag9 A T 11: 94,108,582 H1108L probably damaging Het
Tcrg-C2 T A 13: 19,307,410 probably benign Het
Ubap2 T C 4: 41,229,709 N142S probably benign Het
Usp33 T C 3: 152,381,794 F699L possibly damaging Het
Ythdc2 A G 18: 44,873,140 probably benign Het
Other mutations in Pcdh18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Pcdh18 APN 3 49753379 missense probably damaging 1.00
IGL00639:Pcdh18 APN 3 49755616 missense probably benign 0.34
IGL00954:Pcdh18 APN 3 49756389 missense probably damaging 1.00
IGL01338:Pcdh18 APN 3 49756141 missense probably damaging 1.00
IGL01339:Pcdh18 APN 3 49755798 missense probably benign 0.35
IGL01687:Pcdh18 APN 3 49753533 splice site probably benign
IGL01727:Pcdh18 APN 3 49755700 missense probably damaging 0.99
IGL01788:Pcdh18 APN 3 49755922 nonsense probably null
IGL01824:Pcdh18 APN 3 49754774 missense probably damaging 1.00
IGL01834:Pcdh18 APN 3 49756830 missense probably benign 0.03
IGL01913:Pcdh18 APN 3 49755249 missense possibly damaging 0.94
IGL01915:Pcdh18 APN 3 49744921 missense probably benign
IGL02128:Pcdh18 APN 3 49756686 missense possibly damaging 0.65
IGL02302:Pcdh18 APN 3 49755938 missense probably benign
IGL02342:Pcdh18 APN 3 49756044 missense probably damaging 1.00
IGL02440:Pcdh18 APN 3 49744603 utr 3 prime probably benign
IGL02499:Pcdh18 APN 3 49753447 missense probably benign 0.15
IGL02570:Pcdh18 APN 3 49756625 missense probably benign 0.02
IGL02745:Pcdh18 APN 3 49755891 missense probably damaging 1.00
IGL03073:Pcdh18 APN 3 49753367 missense possibly damaging 0.93
PIT4469001:Pcdh18 UTSW 3 49755069 missense probably benign
R0078:Pcdh18 UTSW 3 49756344 missense probably damaging 1.00
R0196:Pcdh18 UTSW 3 49756698 unclassified probably null
R0524:Pcdh18 UTSW 3 49755642 missense probably damaging 0.98
R0661:Pcdh18 UTSW 3 49753318 missense possibly damaging 0.64
R0900:Pcdh18 UTSW 3 49756803 missense probably benign 0.25
R1101:Pcdh18 UTSW 3 49753379 missense probably damaging 1.00
R1463:Pcdh18 UTSW 3 49755405 missense probably damaging 0.99
R1778:Pcdh18 UTSW 3 49755634 missense probably benign 0.19
R1850:Pcdh18 UTSW 3 49756405 missense probably benign 0.22
R1875:Pcdh18 UTSW 3 49754705 missense probably damaging 0.99
R1903:Pcdh18 UTSW 3 49755447 missense probably benign
R1956:Pcdh18 UTSW 3 49755951 missense probably benign
R2044:Pcdh18 UTSW 3 49754940 missense probably benign
R2303:Pcdh18 UTSW 3 49755274 missense probably damaging 1.00
R3732:Pcdh18 UTSW 3 49754791 missense probably benign
R3732:Pcdh18 UTSW 3 49754791 missense probably benign
R3733:Pcdh18 UTSW 3 49754791 missense probably benign
R3973:Pcdh18 UTSW 3 49754586 missense probably damaging 1.00
R4281:Pcdh18 UTSW 3 49756533 missense possibly damaging 0.76
R4601:Pcdh18 UTSW 3 49744725 missense probably damaging 1.00
R4631:Pcdh18 UTSW 3 49756441 missense probably damaging 0.99
R4752:Pcdh18 UTSW 3 49755114 missense probably damaging 1.00
R4840:Pcdh18 UTSW 3 49744668 missense probably damaging 0.98
R4867:Pcdh18 UTSW 3 49754664 missense probably damaging 1.00
R5007:Pcdh18 UTSW 3 49754457 missense probably benign 0.23
R5039:Pcdh18 UTSW 3 49754856 missense probably benign
R5169:Pcdh18 UTSW 3 49755966 missense possibly damaging 0.65
R5438:Pcdh18 UTSW 3 49756016 nonsense probably null
R5579:Pcdh18 UTSW 3 49744977 missense probably damaging 1.00
R6000:Pcdh18 UTSW 3 49754464 missense probably damaging 0.99
R6220:Pcdh18 UTSW 3 49745251 missense probably damaging 1.00
R6737:Pcdh18 UTSW 3 49755895 missense probably damaging 0.98
R6789:Pcdh18 UTSW 3 49755915 missense probably benign 0.00
R7011:Pcdh18 UTSW 3 49754782 missense probably benign
R7146:Pcdh18 UTSW 3 49755822 missense probably damaging 1.00
R7150:Pcdh18 UTSW 3 49754694 missense probably benign 0.31
R7205:Pcdh18 UTSW 3 49755474 missense probably benign
R7326:Pcdh18 UTSW 3 49756860 missense probably benign
R7413:Pcdh18 UTSW 3 49744783 missense possibly damaging 0.94
R7755:Pcdh18 UTSW 3 49754829 missense possibly damaging 0.59
R7848:Pcdh18 UTSW 3 49755997 missense possibly damaging 0.54
R7931:Pcdh18 UTSW 3 49755997 missense possibly damaging 0.54
Posted On2015-04-16