Incidental Mutation 'IGL01338:Pcdh18'
ID 74710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh18
Ensembl Gene ENSMUSG00000037892
Gene Name protocadherin 18
Synonyms PCDH68L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01338
Quality Score
Status
Chromosome 3
Chromosomal Location 49743296-49757325 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49756141 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 242 (N242Y)
Ref Sequence ENSEMBL: ENSMUSP00000141995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]
AlphaFold Q8VHR0
Predicted Effect probably damaging
Transcript: ENSMUST00000035931
AA Change: N242Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: N242Y

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 damaging
Transcript: ENSMUST00000191794
AA Change: N242Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: N242Y

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
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably damaging Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging 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
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
IGL02095:Pcdh18 APN 3 49756156 missense probably benign 0.01
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 splice site 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
R8169:Pcdh18 UTSW 3 49745235 missense probably damaging 1.00
R8264:Pcdh18 UTSW 3 49756581 missense probably damaging 1.00
R8352:Pcdh18 UTSW 3 49745175 missense possibly damaging 0.81
R8406:Pcdh18 UTSW 3 49756549 missense probably damaging 1.00
R8452:Pcdh18 UTSW 3 49745175 missense possibly damaging 0.81
R8489:Pcdh18 UTSW 3 49754589 missense probably damaging 1.00
R8526:Pcdh18 UTSW 3 49755574 missense probably damaging 1.00
R9075:Pcdh18 UTSW 3 49744890 missense probably benign
R9285:Pcdh18 UTSW 3 49753337 missense probably damaging 0.97
R9316:Pcdh18 UTSW 3 49754640 missense probably damaging 1.00
R9339:Pcdh18 UTSW 3 49754886 missense probably damaging 1.00
R9410:Pcdh18 UTSW 3 49745166 missense probably damaging 1.00
R9425:Pcdh18 UTSW 3 49754602 missense possibly damaging 0.81
R9432:Pcdh18 UTSW 3 49745218 missense probably damaging 0.96
R9547:Pcdh18 UTSW 3 49755057 missense possibly damaging 0.79
R9567:Pcdh18 UTSW 3 49756435 missense possibly damaging 0.95
R9622:Pcdh18 UTSW 3 49756780 missense probably benign 0.20
Posted On 2013-10-07