Incidental Mutation 'R1875:Pcdh18'
ID 211116
Institutional Source Beutler Lab
Gene Symbol Pcdh18
Ensembl Gene ENSMUSG00000037892
Gene Name protocadherin 18
Synonyms PCDH68L
MMRRC Submission 039897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1875 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 49697745-49711723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49709154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 720 (F720L)
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: F720L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: F720L

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: F720L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: F720L

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
AA Change: F253L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195086
Meta Mutation Damage Score 0.1918 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 98% (85/87)
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
Abca14 A T 7: 119,847,190 (GRCm39) M685L possibly damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam26a C A 8: 44,022,888 (GRCm39) V201L probably benign Het
Adamts20 G T 15: 94,229,277 (GRCm39) D947E probably benign Het
Ankrd26 A G 6: 118,517,410 (GRCm39) probably null Het
Apol11a C A 15: 77,397,766 (GRCm39) T39N possibly damaging Het
Arhgef38 T A 3: 132,839,501 (GRCm39) probably null Het
Armh4 T C 14: 49,919,815 (GRCm39) D772G probably damaging Het
Atp11b T C 3: 35,893,296 (GRCm39) L883P probably damaging Het
Btnl10 T A 11: 58,814,586 (GRCm39) I422N probably damaging Het
C2cd3 A G 7: 100,056,232 (GRCm39) K547E possibly damaging Het
Cdh2 T A 18: 16,757,934 (GRCm39) L549F probably benign Het
Celsr3 T C 9: 108,713,037 (GRCm39) V1825A probably benign Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cimap2 G A 4: 106,470,453 (GRCm39) probably benign Het
Csmd1 T C 8: 15,979,101 (GRCm39) K2828E probably damaging Het
Ddah2 T C 17: 35,279,821 (GRCm39) F137S probably damaging Het
Ddx21 A G 10: 62,429,847 (GRCm39) I299T probably damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Elmod1 A G 9: 53,843,151 (GRCm39) I9T probably benign Het
Epha2 A G 4: 141,036,290 (GRCm39) E242G probably benign Het
Erbb3 T C 10: 128,410,335 (GRCm39) H641R possibly damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fli1 T C 9: 32,335,209 (GRCm39) M408V probably benign Het
Fmo4 T C 1: 162,631,187 (GRCm39) N260S possibly damaging Het
Fry A G 5: 150,249,597 (GRCm39) E136G probably damaging Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gm8258 A G 5: 104,924,320 (GRCm39) noncoding transcript Het
Gpr68 T A 12: 100,845,049 (GRCm39) D165V probably damaging Het
Htt T A 5: 34,951,456 (GRCm39) M139K probably benign Het
Jup A G 11: 100,263,120 (GRCm39) probably null Het
Kifc5b G A 17: 27,136,264 (GRCm39) probably null Het
Krba1 T A 6: 48,390,983 (GRCm39) probably null Het
Lamp1 G A 8: 13,217,257 (GRCm39) G89R probably damaging Het
Lrrc17 C T 5: 21,765,650 (GRCm39) S44F possibly damaging Het
Mdga1 T C 17: 30,071,581 (GRCm39) T347A probably damaging Het
Mical3 A T 6: 121,019,025 (GRCm39) W66R probably damaging Het
Mpl A G 4: 118,314,026 (GRCm39) Y73H probably benign Het
Mterf1b T A 5: 4,247,364 (GRCm39) I335N possibly damaging Het
Mylk3 A G 8: 86,079,494 (GRCm39) I388T probably damaging Het
Myo15a C T 11: 60,398,354 (GRCm39) R2775W probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Ndrg1 T C 15: 66,802,940 (GRCm39) T137A possibly damaging Het
Neil3 G T 8: 54,052,454 (GRCm39) N381K probably damaging Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Or2b4 A G 17: 38,115,996 (GRCm39) probably benign Het
Or6b6 G A 7: 106,571,389 (GRCm39) S54F possibly damaging Het
Otogl T C 10: 107,735,451 (GRCm39) D111G probably damaging Het
Parp10 T C 15: 76,127,051 (GRCm39) E103G probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Phf3 T C 1: 30,869,704 (GRCm39) E448G possibly damaging Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Pik3c2a A T 7: 116,017,206 (GRCm39) S184T probably benign Het
Pkd1l1 A G 11: 8,794,670 (GRCm39) probably benign Het
Plch2 G A 4: 155,082,965 (GRCm39) S485F probably damaging Het
Plxnd1 G T 6: 115,955,045 (GRCm39) probably null Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Prl8a2 T C 13: 27,535,037 (GRCm39) V103A probably benign Het
Psg23 G A 7: 18,344,375 (GRCm39) T360I probably benign Het
Rad51c A T 11: 87,279,469 (GRCm39) I323N probably damaging Het
Rsbn1l C T 5: 21,156,696 (GRCm39) E30K probably benign Het
Serpina3c C A 12: 104,118,145 (GRCm39) L64F probably damaging Het
Shroom1 A G 11: 53,356,502 (GRCm39) D392G probably damaging Het
Slc26a5 T A 5: 22,020,725 (GRCm39) I540L probably benign Het
Slc37a4 A G 9: 44,312,808 (GRCm39) T321A probably damaging Het
Slc41a2 A G 10: 83,091,949 (GRCm39) L438S probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Spef2 C T 15: 9,597,487 (GRCm39) G1390R possibly damaging Het
Spmap2l A T 5: 77,202,431 (GRCm39) K284M probably benign Het
Synj2 G T 17: 6,078,825 (GRCm39) A740S possibly damaging Het
Tigd4 A C 3: 84,502,394 (GRCm39) D437A probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem106a CAGCTCAACACGACGGTA CAGCTCAACACGACGGTAAGCTCAACACGACGGTA 11: 101,477,204 (GRCm39) probably benign Het
Tmem131l A T 3: 83,812,383 (GRCm39) C1313* probably null Het
Tmem86b A T 7: 4,632,698 (GRCm39) I47N possibly damaging Het
Tspan13 T C 12: 36,070,550 (GRCm39) probably null Het
Vps54 A G 11: 21,250,251 (GRCm39) T396A probably benign Het
Zfp106 A T 2: 120,344,096 (GRCm39) probably null Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null Het
Zfp809 A T 9: 22,150,027 (GRCm39) R175* probably null 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
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
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'- ACTGTTGAGTGACTGGTGAC -3'
(R):5'- ATCATCCAGGACAAGGGCAG -3'

Sequencing Primer
(F):5'- GCGGCTGCCCATTTGTC -3'
(R):5'- AGGGCAGTCCTCCTCTG -3'
Posted On 2014-06-30