Incidental Mutation 'R9285:Pcdh18'
ID 703852
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 # R9285 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 49697745-49711723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49707786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 895 (L895P)
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: L895P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: L895P

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: L896P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: L896P

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,526,756 (GRCm39) T1085K probably benign Het
Asxl3 A T 18: 22,654,989 (GRCm39) I1000F probably damaging Het
Atp2c2 A G 8: 120,465,141 (GRCm39) M308V probably benign Het
Chd3 G T 11: 69,249,954 (GRCm39) R736S possibly damaging Het
Chst9 T A 18: 15,586,017 (GRCm39) H182L probably damaging Het
Cnot1 A G 8: 96,452,746 (GRCm39) F2112S probably damaging Het
Csmd1 A T 8: 15,956,088 (GRCm39) L3373H probably damaging Het
Ctsll3 T A 13: 60,946,402 (GRCm39) D303V probably benign Het
Cyp7b1 T A 3: 18,151,564 (GRCm39) K216N probably damaging Het
Dock9 A C 14: 121,833,012 (GRCm39) F1315V probably benign Het
Eme2 T C 17: 25,108,132 (GRCm39) probably benign Het
Eml2 A G 7: 18,925,568 (GRCm39) I222M probably damaging Het
Ggcx T A 6: 72,395,402 (GRCm39) Y164* probably null Het
Gm20939 T C 17: 95,184,188 (GRCm39) F279L probably damaging Het
Gm44511 T C 6: 128,777,017 (GRCm39) probably benign Het
Gprin1 A G 13: 54,886,523 (GRCm39) S584P probably damaging Het
Ighv2-2 A T 12: 113,551,903 (GRCm39) Y112N probably damaging Het
Kansl3 T C 1: 36,383,148 (GRCm39) probably benign Het
Kcnu1 T A 8: 26,381,611 (GRCm39) I449K probably damaging Het
Lima1 T C 15: 99,678,687 (GRCm39) R585G probably damaging Het
Lrrk2 T A 15: 91,662,686 (GRCm39) V1905E probably damaging Het
Map3k6 T A 4: 132,972,870 (GRCm39) V343E probably damaging Het
Mei1 T C 15: 81,985,170 (GRCm39) F279S Het
Mgat3 A G 15: 80,096,538 (GRCm39) D455G probably damaging Het
Mycbp2 T A 14: 103,434,753 (GRCm39) Q2230L probably damaging Het
Myog T C 1: 134,218,895 (GRCm39) F179S possibly damaging Het
Nlrc5 A C 8: 95,199,604 (GRCm39) I72L probably damaging Het
Or2ag1 T C 7: 106,472,715 (GRCm39) T246A probably benign Het
Or4k2 A C 14: 50,424,122 (GRCm39) V185G probably benign Het
Or4s2b T A 2: 88,508,680 (GRCm39) H153Q probably damaging Het
Or5k15 T A 16: 58,710,569 (GRCm39) K5* probably null Het
Or5p5 C T 7: 107,413,821 (GRCm39) T10I probably damaging Het
Pibf1 C T 14: 99,480,345 (GRCm39) T707M probably benign Het
Ptk2b A T 14: 66,410,844 (GRCm39) Y418N possibly damaging Het
Ptx4 T G 17: 25,343,930 (GRCm39) Y393* probably null Het
Sass6 C A 3: 116,422,354 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Spatc1l T C 10: 76,398,264 (GRCm39) V22A probably damaging Het
Strc T C 2: 121,195,279 (GRCm39) E1668G probably damaging Het
Sulf2 T A 2: 165,935,435 (GRCm39) H226L probably damaging Het
Sun5 T C 2: 153,709,426 (GRCm39) probably benign Het
Svep1 C T 4: 58,084,809 (GRCm39) probably null Het
Tektl1 C A 10: 78,588,234 (GRCm39) probably benign Het
Xylt2 A T 11: 94,558,536 (GRCm39) I540N probably benign Het
Zfp804b T C 5: 6,820,723 (GRCm39) N780S probably benign Het
Zfp983 T A 17: 21,876,520 (GRCm39) M8K possibly damaging 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
R9316:Pcdh18 UTSW 3 49,709,089 (GRCm39) missense probably damaging 1.00
R9339:Pcdh18 UTSW 3 49,709,335 (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'- CGCTTGTCCACTGCTAATAGTG -3'
(R):5'- ATTACCCTGGTGTCAGCTGC -3'

Sequencing Primer
(F):5'- GTCCACTGCTAATAGTGCAGAGATC -3'
(R):5'- CTAAGTCTCGGGGAACTTAAATGCC -3'
Posted On 2022-03-25