Incidental Mutation 'R8169:Pcdh18'
ID 633938
Institutional Source Beutler Lab
Gene Symbol Pcdh18
Ensembl Gene ENSMUSG00000037892
Gene Name protocadherin 18
Synonyms PCDH68L
MMRRC Submission 067595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8169 (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 A at 49699684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 926 (H926L)
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: H926L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: H926L

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
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (80/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik C A 5: 139,349,812 (GRCm39) G79V probably damaging Het
4930562C15Rik T A 16: 4,684,082 (GRCm39) Y226N probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Bach1 G A 16: 87,519,390 (GRCm39) C560Y possibly damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Casq2 G T 3: 102,017,628 (GRCm39) A103S possibly damaging Het
Cfap100 A G 6: 90,394,656 (GRCm39) F57S Het
Clca3a2 A T 3: 144,783,653 (GRCm39) L654Q probably damaging Het
Cntnap5c T A 17: 58,411,765 (GRCm39) probably null Het
Cplane2 A G 4: 140,945,530 (GRCm39) H127R probably damaging Het
Crtc2 G C 3: 90,170,883 (GRCm39) G652A probably damaging Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Dars1 T C 1: 128,304,002 (GRCm39) N242D probably null Het
Dnah10 T C 5: 124,877,946 (GRCm39) L2677P probably damaging Het
Dnal1 G A 12: 84,171,330 (GRCm39) A3T probably benign Het
Dpep2 C T 8: 106,722,849 (GRCm39) V60I Het
Eeig1 T C 2: 32,453,760 (GRCm39) I203T probably benign Het
Ehmt2 T A 17: 35,122,339 (GRCm39) I302N probably benign Het
Eif3a C T 19: 60,750,628 (GRCm39) R1309Q unknown Het
Eno4 T A 19: 58,935,084 (GRCm39) Y100N probably benign Het
Ephx2 A T 14: 66,349,602 (GRCm39) probably null Het
Fbxw14 A T 9: 109,106,284 (GRCm39) I251K probably benign Het
Fcgbp T C 7: 27,784,919 (GRCm39) probably null Het
Foxm1 A C 6: 128,348,671 (GRCm39) probably null Het
Fscn3 T A 6: 28,430,328 (GRCm39) I166N possibly damaging Het
Gdpd4 G T 7: 97,621,335 (GRCm39) V193L probably benign Het
Gnpat T G 8: 125,606,869 (GRCm39) C352G probably benign Het
H2-Q7 T A 17: 35,658,910 (GRCm39) Y120* probably null Het
Klri1 G A 6: 129,694,070 (GRCm39) R6C probably benign Het
Kmo T C 1: 175,476,729 (GRCm39) V154A probably benign Het
Kmt2c A G 5: 25,559,685 (GRCm39) L1031P probably damaging Het
Lrrc14b T G 13: 74,511,286 (GRCm39) T265P possibly damaging Het
Lrrc2 C T 9: 110,809,954 (GRCm39) T330I probably benign Het
Lyn T A 4: 3,783,050 (GRCm39) S428T probably damaging Het
Lypd10 T A 7: 24,412,000 (GRCm39) M60K probably benign Het
Mfsd8 T A 3: 40,791,550 (GRCm39) M59L probably benign Het
Mok T A 12: 110,774,799 (GRCm39) Q341L probably benign Het
Muc21 T C 17: 35,932,072 (GRCm39) T705A unknown Het
Myh3 C A 11: 66,979,856 (GRCm39) N598K probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp4e A G 7: 23,019,931 (GRCm39) I139M probably benign Het
Or11g25 T C 14: 50,723,692 (GRCm39) V259A probably benign Het
Or3a10 T A 11: 73,935,707 (GRCm39) Q131L possibly damaging Het
Or4b13 G A 2: 90,082,442 (GRCm39) R297* probably null Het
Or51g2 A G 7: 102,622,545 (GRCm39) L218P probably damaging Het
Or52n2b A T 7: 104,565,619 (GRCm39) Y295N possibly damaging Het
Osbpl7 G A 11: 96,945,676 (GRCm39) S312N probably damaging Het
Paxip1 A G 5: 27,977,093 (GRCm39) L323P unknown Het
Pcm1 T G 8: 41,763,153 (GRCm39) S1460R possibly damaging Het
Pdha2 A G 3: 140,917,155 (GRCm39) S118P possibly damaging Het
Pdss1 A T 2: 22,791,824 (GRCm39) Y86F probably benign Het
Ppargc1a A T 5: 51,631,026 (GRCm39) D534E probably benign Het
Prune2 A G 19: 17,102,455 (GRCm39) K2538R probably benign Het
Ptprq A T 10: 107,418,351 (GRCm39) I1675N probably damaging Het
Rgma C T 7: 73,025,630 (GRCm39) P3L probably benign Het
Ros1 A G 10: 51,940,768 (GRCm39) probably null Het
Sema4g C T 19: 44,987,410 (GRCm39) R519W probably damaging Het
Serpinc1 T A 1: 160,820,971 (GRCm39) F139L probably damaging Het
Slc22a29 A G 19: 8,184,696 (GRCm39) I198T probably damaging Het
Slc4a5 T C 6: 83,280,373 (GRCm39) V1007A probably benign Het
Sptbn1 T C 11: 30,147,783 (GRCm39) Y17C possibly damaging Het
Tex261 C A 6: 83,751,999 (GRCm39) probably null Het
Timmdc1 T A 16: 38,331,148 (GRCm39) T128S probably benign Het
Tmem120b C A 5: 123,237,999 (GRCm39) Y96* probably null Het
Tmem196 T A 12: 119,982,311 (GRCm39) F182I possibly damaging Het
Tnxb G A 17: 34,918,181 (GRCm39) V2365M possibly damaging Het
Tph1 T C 7: 46,303,233 (GRCm39) silent Het
Trmt9b A T 8: 36,978,857 (GRCm39) K153N probably damaging Het
Trpc1 G A 9: 95,592,323 (GRCm39) Q551* probably null Het
Tubgcp3 T C 8: 12,666,099 (GRCm39) N828D probably benign Het
Unc13a C A 8: 72,108,933 (GRCm39) G478W probably damaging Het
Usp15 T A 10: 122,961,798 (GRCm39) T627S Het
Vmn1r115 A T 7: 20,578,144 (GRCm39) I256N probably damaging Het
Vmn2r6 T A 3: 64,447,310 (GRCm39) K585N probably benign Het
Vsir G T 10: 60,194,047 (GRCm39) probably null Het
Xirp2 A G 2: 67,343,543 (GRCm39) D1928G probably benign Het
Xylt1 A G 7: 117,249,846 (GRCm39) Y672C probably damaging Het
Yrdc A G 4: 124,744,880 (GRCm39) S105G probably benign Het
Zfc3h1 T A 10: 115,254,616 (GRCm39) N1403K probably damaging Het
Zfp160 A T 17: 21,247,298 (GRCm39) H616L probably damaging Het
Zfp637 T A 6: 117,822,252 (GRCm39) F127I probably damaging Het
Zfp69 G T 4: 120,787,731 (GRCm39) A528D probably damaging Het
Zpr1 T A 9: 46,189,645 (GRCm39) L342Q 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
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'- TGCTAGAGTCTCCCGAATCC -3'
(R):5'- GCCTATCTAATGTGCCTAACAACAG -3'

Sequencing Primer
(F):5'- GGAGTCCTTCCCAAAAGTGG -3'
(R):5'- TCTAATGTGCCTAACAACAGATTAAC -3'
Posted On 2020-07-13