Incidental Mutation 'R9339:Pcdh18'
ID 707353
Institutional Source Beutler Lab
Gene Symbol Pcdh18
Ensembl Gene ENSMUSG00000037892
Gene Name protocadherin 18
Synonyms PCDH68L
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 49697745-49711723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49709335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 660 (D660G)
Ref Sequence ENSEMBL: ENSMUSP00000039245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]
AlphaFold Q8VHR0
Predicted Effect probably damaging
Transcript: ENSMUST00000035931
AA Change: D660G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: D660G

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: D660G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: D660G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,521 (GRCm39) E304G unknown Het
4933436I01Rik T A X: 66,964,689 (GRCm39) K57* probably null Het
Aar2 T C 2: 156,392,893 (GRCm39) V94A probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam25 T C 8: 41,206,911 (GRCm39) V59A probably damaging Het
Ampd2 T C 3: 107,987,616 (GRCm39) D103G probably damaging Het
Ankrd12 A G 17: 66,291,408 (GRCm39) S1342P probably benign Het
Atp13a2 A G 4: 140,730,571 (GRCm39) T739A probably benign Het
Catsperg1 T A 7: 28,894,885 (GRCm39) N571Y probably benign Het
Cela3b A G 4: 137,152,355 (GRCm39) I74T probably damaging Het
Cfhr1 A G 1: 139,485,293 (GRCm39) L51P probably benign Het
Cfhr4 T A 1: 139,682,044 (GRCm39) Y184F probably benign Het
Ckap5 T A 2: 91,396,100 (GRCm39) D534E probably benign Het
Cstf3 C T 2: 104,493,778 (GRCm39) P594L probably damaging Het
Ctdp1 A G 18: 80,492,689 (GRCm39) L602P probably damaging Het
Defa24 A G 8: 22,224,559 (GRCm39) T3A probably damaging Het
Dmgdh A G 13: 93,847,941 (GRCm39) H546R probably benign Het
Dscam A G 16: 96,517,263 (GRCm39) V882A possibly damaging Het
Dydc2 A G 14: 40,771,260 (GRCm39) *140Q probably null Het
Ehd4 T C 2: 119,921,708 (GRCm39) D516G possibly damaging Het
En1 T C 1: 120,534,893 (GRCm39) V394A unknown Het
Erich3 T G 3: 154,468,872 (GRCm39) L1108R unknown Het
Erp27 A G 6: 136,896,945 (GRCm39) S86P probably benign Het
Esr1 A C 10: 4,696,798 (GRCm39) S216R probably damaging Het
Fbxo40 A T 16: 36,789,286 (GRCm39) I608N probably damaging Het
Fcna G A 2: 25,517,782 (GRCm39) Q23* probably null Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm39) T150A probably damaging Het
Gbp2b T A 3: 142,317,178 (GRCm39) H511Q probably benign Het
Gpr171 C A 3: 59,005,362 (GRCm39) V138L probably damaging Het
Grhl2 G A 15: 37,344,904 (GRCm39) V509I probably benign Het
Gzmd G A 14: 56,367,869 (GRCm39) P135S probably damaging Het
Hhatl C A 9: 121,618,862 (GRCm39) C90F probably benign Het
Hspg2 A G 4: 137,278,480 (GRCm39) K3050R probably benign Het
Kcnh3 T C 15: 99,130,786 (GRCm39) Y468H probably damaging Het
Lhfpl6 A G 3: 52,950,891 (GRCm39) H55R probably benign Het
Lpgat1 T C 1: 191,451,488 (GRCm39) V38A probably benign Het
Lrrc49 A G 9: 60,510,031 (GRCm39) I479T probably benign Het
Map1b A T 13: 99,567,570 (GRCm39) I1717N unknown Het
Map3k20 G T 2: 72,272,216 (GRCm39) R781S possibly damaging Het
Mcm3ap A G 10: 76,306,358 (GRCm39) E157G probably benign Het
Mylk2 A G 2: 152,755,370 (GRCm39) E178G probably damaging Het
Naaladl2 A G 3: 24,057,146 (GRCm39) L605P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nt5el C T 13: 105,246,114 (GRCm39) T225I probably benign Het
Or10h28 T C 17: 33,488,631 (GRCm39) V311A probably benign Het
Or4a76 T C 2: 89,460,555 (GRCm39) E229G probably damaging Het
Padi3 A T 4: 140,522,928 (GRCm39) I348N probably benign Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,452,949 (GRCm39) V3958A probably damaging Het
Ppargc1b C A 18: 61,456,267 (GRCm39) C80F probably damaging Het
Rbm28 T C 6: 29,128,674 (GRCm39) E590G probably benign Het
Rbm47 T C 5: 66,183,826 (GRCm39) E259G possibly damaging Het
Rint1 A G 5: 23,993,355 (GRCm39) *37W probably null Het
Sacs G A 14: 61,443,309 (GRCm39) R1785Q probably benign Het
Samm50 T C 15: 84,095,276 (GRCm39) C421R probably benign Het
Scnn1b G T 7: 121,511,254 (GRCm39) A314S probably damaging Het
Sf3b3 C A 8: 111,542,854 (GRCm39) V868L probably benign Het
Sirt5 G T 13: 43,530,327 (GRCm39) V136L probably benign Het
Slc1a7 T C 4: 107,850,237 (GRCm39) V116A probably damaging Het
Slc24a4 G A 12: 102,230,638 (GRCm39) V510M probably damaging Het
Slc35f5 T C 1: 125,517,628 (GRCm39) I116T probably benign Het
Spata4 T C 8: 55,053,899 (GRCm39) S22P probably benign Het
Sqstm1 A G 11: 50,091,725 (GRCm39) V324A probably benign Het
Stmnd1 G A 13: 46,453,079 (GRCm39) A252T probably benign Het
Tbl1xr1 C A 3: 22,258,150 (GRCm39) N470K possibly damaging Het
Thap12 T C 7: 98,364,323 (GRCm39) S164P possibly damaging Het
Thsd1 A G 8: 22,733,898 (GRCm39) Y315C probably damaging Het
Tnni2 C A 7: 141,997,672 (GRCm39) D102E probably damaging Het
Trav7n-4 A C 14: 53,328,849 (GRCm39) N16T probably benign Het
Trpm7 T C 2: 126,665,906 (GRCm39) K900R probably benign Het
Tspoap1 T A 11: 87,668,839 (GRCm39) C1371S probably benign Het
Tssk5 A G 15: 76,257,156 (GRCm39) M242T possibly damaging Het
Ubn2 A G 6: 38,460,079 (GRCm39) I607V probably benign Het
Ubr2 A T 17: 47,284,865 (GRCm39) V551E probably benign Het
Vipr2 A G 12: 116,058,344 (GRCm39) N87S probably damaging Het
Vmn2r18 T A 5: 151,485,132 (GRCm39) K787N probably damaging Het
Wwc2 A T 8: 48,353,859 (GRCm39) W92R probably damaging Het
Zfp141 A G 7: 42,125,639 (GRCm39) Y278H probably damaging Het
Zfp827 T C 8: 79,844,887 (GRCm39) S686P probably benign Het
Other mutations in Pcdh18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Pcdh18 APN 3 49,707,828 (GRCm39) missense probably damaging 1.00
IGL00639:Pcdh18 APN 3 49,710,065 (GRCm39) missense probably benign 0.34
IGL00954:Pcdh18 APN 3 49,710,838 (GRCm39) missense probably damaging 1.00
IGL01338:Pcdh18 APN 3 49,710,590 (GRCm39) missense probably damaging 1.00
IGL01339:Pcdh18 APN 3 49,710,247 (GRCm39) missense probably benign 0.35
IGL01687:Pcdh18 APN 3 49,707,982 (GRCm39) splice site probably benign
IGL01727:Pcdh18 APN 3 49,710,149 (GRCm39) missense probably damaging 0.99
IGL01788:Pcdh18 APN 3 49,710,371 (GRCm39) nonsense probably null
IGL01824:Pcdh18 APN 3 49,709,223 (GRCm39) missense probably damaging 1.00
IGL01834:Pcdh18 APN 3 49,711,279 (GRCm39) missense probably benign 0.03
IGL01913:Pcdh18 APN 3 49,709,698 (GRCm39) missense possibly damaging 0.94
IGL01915:Pcdh18 APN 3 49,699,370 (GRCm39) missense probably benign
IGL02095:Pcdh18 APN 3 49,710,605 (GRCm39) missense probably benign 0.01
IGL02128:Pcdh18 APN 3 49,711,135 (GRCm39) missense possibly damaging 0.65
IGL02302:Pcdh18 APN 3 49,710,387 (GRCm39) missense probably benign
IGL02342:Pcdh18 APN 3 49,710,493 (GRCm39) missense probably damaging 1.00
IGL02440:Pcdh18 APN 3 49,699,052 (GRCm39) utr 3 prime probably benign
IGL02499:Pcdh18 APN 3 49,707,896 (GRCm39) missense probably benign 0.15
IGL02570:Pcdh18 APN 3 49,711,074 (GRCm39) missense probably benign 0.02
IGL02745:Pcdh18 APN 3 49,710,340 (GRCm39) missense probably damaging 1.00
IGL03073:Pcdh18 APN 3 49,707,816 (GRCm39) missense possibly damaging 0.93
PIT4469001:Pcdh18 UTSW 3 49,709,518 (GRCm39) missense probably benign
R0078:Pcdh18 UTSW 3 49,710,793 (GRCm39) missense probably damaging 1.00
R0196:Pcdh18 UTSW 3 49,711,147 (GRCm39) splice site probably null
R0524:Pcdh18 UTSW 3 49,710,091 (GRCm39) missense probably damaging 0.98
R0661:Pcdh18 UTSW 3 49,707,767 (GRCm39) missense possibly damaging 0.64
R0900:Pcdh18 UTSW 3 49,711,252 (GRCm39) missense probably benign 0.25
R1101:Pcdh18 UTSW 3 49,707,828 (GRCm39) missense probably damaging 1.00
R1463:Pcdh18 UTSW 3 49,709,854 (GRCm39) missense probably damaging 0.99
R1778:Pcdh18 UTSW 3 49,710,083 (GRCm39) missense probably benign 0.19
R1850:Pcdh18 UTSW 3 49,710,854 (GRCm39) missense probably benign 0.22
R1875:Pcdh18 UTSW 3 49,709,154 (GRCm39) missense probably damaging 0.99
R1903:Pcdh18 UTSW 3 49,709,896 (GRCm39) missense probably benign
R1956:Pcdh18 UTSW 3 49,710,400 (GRCm39) missense probably benign
R2044:Pcdh18 UTSW 3 49,709,389 (GRCm39) missense probably benign
R2303:Pcdh18 UTSW 3 49,709,723 (GRCm39) missense probably damaging 1.00
R3732:Pcdh18 UTSW 3 49,709,240 (GRCm39) missense probably benign
R3732:Pcdh18 UTSW 3 49,709,240 (GRCm39) missense probably benign
R3733:Pcdh18 UTSW 3 49,709,240 (GRCm39) missense probably benign
R3973:Pcdh18 UTSW 3 49,709,035 (GRCm39) missense probably damaging 1.00
R4281:Pcdh18 UTSW 3 49,710,982 (GRCm39) missense possibly damaging 0.76
R4601:Pcdh18 UTSW 3 49,699,174 (GRCm39) missense probably damaging 1.00
R4631:Pcdh18 UTSW 3 49,710,890 (GRCm39) missense probably damaging 0.99
R4752:Pcdh18 UTSW 3 49,709,563 (GRCm39) missense probably damaging 1.00
R4840:Pcdh18 UTSW 3 49,699,117 (GRCm39) missense probably damaging 0.98
R4867:Pcdh18 UTSW 3 49,709,113 (GRCm39) missense probably damaging 1.00
R5007:Pcdh18 UTSW 3 49,708,906 (GRCm39) missense probably benign 0.23
R5039:Pcdh18 UTSW 3 49,709,305 (GRCm39) missense probably benign
R5169:Pcdh18 UTSW 3 49,710,415 (GRCm39) missense possibly damaging 0.65
R5438:Pcdh18 UTSW 3 49,710,465 (GRCm39) nonsense probably null
R5579:Pcdh18 UTSW 3 49,699,426 (GRCm39) missense probably damaging 1.00
R6000:Pcdh18 UTSW 3 49,708,913 (GRCm39) missense probably damaging 0.99
R6220:Pcdh18 UTSW 3 49,699,700 (GRCm39) missense probably damaging 1.00
R6737:Pcdh18 UTSW 3 49,710,344 (GRCm39) missense probably damaging 0.98
R6789:Pcdh18 UTSW 3 49,710,364 (GRCm39) missense probably benign 0.00
R7011:Pcdh18 UTSW 3 49,709,231 (GRCm39) missense probably benign
R7146:Pcdh18 UTSW 3 49,710,271 (GRCm39) missense probably damaging 1.00
R7150:Pcdh18 UTSW 3 49,709,143 (GRCm39) missense probably benign 0.31
R7205:Pcdh18 UTSW 3 49,709,923 (GRCm39) missense probably benign
R7326:Pcdh18 UTSW 3 49,711,309 (GRCm39) missense probably benign
R7413:Pcdh18 UTSW 3 49,699,232 (GRCm39) missense possibly damaging 0.94
R7755:Pcdh18 UTSW 3 49,709,278 (GRCm39) missense possibly damaging 0.59
R7848:Pcdh18 UTSW 3 49,710,446 (GRCm39) missense possibly damaging 0.54
R8169:Pcdh18 UTSW 3 49,699,684 (GRCm39) missense probably damaging 1.00
R8264:Pcdh18 UTSW 3 49,711,030 (GRCm39) missense probably damaging 1.00
R8352:Pcdh18 UTSW 3 49,699,624 (GRCm39) missense possibly damaging 0.81
R8406:Pcdh18 UTSW 3 49,710,998 (GRCm39) missense probably damaging 1.00
R8452:Pcdh18 UTSW 3 49,699,624 (GRCm39) missense possibly damaging 0.81
R8489:Pcdh18 UTSW 3 49,709,038 (GRCm39) missense probably damaging 1.00
R8526:Pcdh18 UTSW 3 49,710,023 (GRCm39) missense probably damaging 1.00
R9075:Pcdh18 UTSW 3 49,699,339 (GRCm39) missense probably benign
R9285:Pcdh18 UTSW 3 49,707,786 (GRCm39) missense probably damaging 0.97
R9316:Pcdh18 UTSW 3 49,709,089 (GRCm39) missense probably damaging 1.00
R9410:Pcdh18 UTSW 3 49,699,615 (GRCm39) missense probably damaging 1.00
R9425:Pcdh18 UTSW 3 49,709,051 (GRCm39) missense possibly damaging 0.81
R9432:Pcdh18 UTSW 3 49,699,667 (GRCm39) missense probably damaging 0.96
R9547:Pcdh18 UTSW 3 49,709,506 (GRCm39) missense possibly damaging 0.79
R9567:Pcdh18 UTSW 3 49,710,884 (GRCm39) missense possibly damaging 0.95
R9622:Pcdh18 UTSW 3 49,711,229 (GRCm39) missense probably benign 0.20
R9687:Pcdh18 UTSW 3 49,711,036 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTCGTTGCAAACAGGACC -3'
(R):5'- TCCCCAAAGGAGCTGAAAGTG -3'

Sequencing Primer
(F):5'- TCGTTGCAAACAGGACCATAATAAC -3'
(R):5'- CCCAAAGGAGCTGAAAGTGGTTTTC -3'
Posted On 2022-04-18