Incidental Mutation 'R9567:Pcdh18'
ID 721658
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 # R9567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 49697745-49711723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49710884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 144 (I144F)
Ref Sequence ENSEMBL: ENSMUSP00000039245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]
AlphaFold Q8VHR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035931
AA Change: I144F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: I144F

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 possibly damaging
Transcript: ENSMUST00000191794
AA Change: I144F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: I144F

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 probably benign
Transcript: ENSMUST00000194603
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,602,793 (GRCm39) P52S probably damaging Het
6820408C15Rik C A 2: 152,270,867 (GRCm39) P30Q probably damaging Het
Adam18 C T 8: 25,118,210 (GRCm39) V569I probably benign Het
Adnp2 A T 18: 80,174,133 (GRCm39) L92Q probably damaging Het
Ahi1 C T 10: 20,857,300 (GRCm39) H632Y possibly damaging Het
Akap9 A G 5: 4,127,311 (GRCm39) N3720D possibly damaging Het
Alpk3 T C 7: 80,742,687 (GRCm39) S835P possibly damaging Het
Amer3 C T 1: 34,627,836 (GRCm39) L692F probably benign Het
Anks6 T A 4: 47,044,880 (GRCm39) D342V unknown Het
Arap2 G T 5: 62,761,841 (GRCm39) F1628L probably benign Het
Arhgap21 T G 2: 20,896,953 (GRCm39) I108L possibly damaging Het
Cacna1h T C 17: 25,612,487 (GRCm39) I404V probably damaging Het
Cacna2d3 G T 14: 28,627,268 (GRCm39) A1077E probably benign Het
Cacng6 T C 7: 3,483,281 (GRCm39) V203A probably benign Het
Clec1b A T 6: 129,382,201 (GRCm39) D226V possibly damaging Het
Crb1 A C 1: 139,171,208 (GRCm39) S727R probably benign Het
Dars1 T C 1: 128,343,112 (GRCm39) I35V Het
Ddo T A 10: 40,523,913 (GRCm39) V301D probably damaging Het
Diablo C A 5: 123,662,196 (GRCm39) probably benign Het
Dipk1a T A 5: 108,057,368 (GRCm39) K397* probably null Het
Dnhd1 C A 7: 105,353,473 (GRCm39) H2875Q probably benign Het
E230025N22Rik A G 18: 36,820,336 (GRCm39) L282P Het
Ebna1bp2 A G 4: 118,478,190 (GRCm39) Q21R probably benign Het
Exoc7 C T 11: 116,195,724 (GRCm39) V93I probably benign Het
Foxk1 T A 5: 142,387,713 (GRCm39) Y145* probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fsip2 C T 2: 82,798,173 (GRCm39) T489M probably benign Het
Gbf1 C T 19: 46,260,046 (GRCm39) T1067I Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Guf1 T A 5: 69,721,951 (GRCm39) V370E possibly damaging Het
Hmg20a A G 9: 56,384,472 (GRCm39) S81G probably benign Het
Igf2r G A 17: 12,905,641 (GRCm39) T2230I probably damaging Het
Ighmbp2 A T 19: 3,332,785 (GRCm39) M1K probably null Het
Klhdc9 T C 1: 171,187,914 (GRCm39) T106A probably benign Het
Kti12 T C 4: 108,705,935 (GRCm39) M283T possibly damaging Het
Lrig3 C T 10: 125,845,964 (GRCm39) P798S probably benign Het
Lrp8 T C 4: 107,711,469 (GRCm39) F333L probably damaging Het
Lyn T A 4: 3,746,757 (GRCm39) D178E probably benign Het
Magi1 G A 6: 93,655,431 (GRCm39) A1405V probably damaging Het
Magi1 A C 6: 93,659,931 (GRCm39) probably null Het
Mdga1 G A 17: 30,076,569 (GRCm39) P68S probably damaging Het
Mfsd8 T C 3: 40,793,933 (GRCm39) S25G probably benign Het
Mgat1 C A 11: 49,152,694 (GRCm39) S392R probably benign Het
Mtmr2 C T 9: 13,713,301 (GRCm39) Q493* probably null Het
Myocd A T 11: 65,078,410 (GRCm39) S462T probably damaging Het
Ndnf A G 6: 65,681,164 (GRCm39) Y481C probably damaging Het
Neb G T 2: 52,065,138 (GRCm39) R6258S probably damaging Het
Nlrp4c A G 7: 6,063,624 (GRCm39) M11V probably benign Het
Nup93 T C 8: 95,035,604 (GRCm39) S658P possibly damaging Het
Obox2 T A 7: 15,130,771 (GRCm39) M1K probably null Het
Or10ag55-ps1 T A 2: 87,115,037 (GRCm39) Y134* probably null Het
Or10g9 T A 9: 39,912,367 (GRCm39) H52L possibly damaging Het
Or1e20-ps1 G T 11: 73,324,789 (GRCm39) H88N unknown Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Pcdhgb5 C T 18: 37,864,982 (GRCm39) T259I probably damaging Het
Pclo A G 5: 14,763,436 (GRCm39) T685A Het
Pecam1 T C 11: 106,588,121 (GRCm39) T139A possibly damaging Het
Pi15 T A 1: 17,695,178 (GRCm39) L265Q probably damaging Het
Pkd1l3 T A 8: 110,394,173 (GRCm39) F2053L probably damaging Het
Ppp1r36 A G 12: 76,485,900 (GRCm39) I353V probably benign Het
Ppp1r9a A G 6: 5,157,004 (GRCm39) S961G probably benign Het
Rbm42 T C 7: 30,345,395 (GRCm39) R151G possibly damaging Het
Rnf224 T C 2: 25,126,354 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Slc17a5 T A 9: 78,445,562 (GRCm39) Q457L possibly damaging Het
Slc5a4a A T 10: 76,022,396 (GRCm39) D577V probably benign Het
Stim2 A G 5: 54,232,707 (GRCm39) D123G probably damaging Het
Stxbp5l A G 16: 37,061,734 (GRCm39) F359L probably benign Het
Syne1 T C 10: 5,196,386 (GRCm39) D3882G possibly damaging Het
Synj1 G T 16: 90,790,912 (GRCm39) S83Y possibly damaging Het
Tfip11 C T 5: 112,479,029 (GRCm39) T199I probably damaging Het
Thoc2l T A 5: 104,669,644 (GRCm39) S1389T probably benign Het
Tiam1 T A 16: 89,591,653 (GRCm39) D1349V probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ucn3 T A 13: 3,991,313 (GRCm39) D113V probably damaging Het
Ugt3a1 A G 15: 9,306,370 (GRCm39) D173G possibly damaging Het
Uimc1 C A 13: 55,188,427 (GRCm39) R544L possibly damaging Het
Unc13c T C 9: 73,536,485 (GRCm39) S1623G probably damaging Het
Vmn2r41 T C 7: 8,141,391 (GRCm39) N691S probably benign Het
Wdr24 T A 17: 26,043,190 (GRCm39) M4K probably damaging Het
Wdr48 T C 9: 119,741,454 (GRCm39) F332L probably benign Het
Xpo7 A G 14: 70,903,466 (GRCm39) V1080A probably benign Het
Zc3h3 A T 15: 75,651,261 (GRCm39) I653N probably damaging Het
Zfp1005 A T 2: 150,109,517 (GRCm39) H69L possibly damaging Het
Zfp362 T A 4: 128,688,681 (GRCm39) M1L unknown Het
Zfp503 A G 14: 22,036,041 (GRCm39) C292R 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
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
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'- TATGAGTTCAGCGTACTTGGC -3'
(R):5'- AAGCTACCAAATCCTTCTGCTG -3'

Sequencing Primer
(F):5'- CGTACTTGGCCCCGTCTG -3'
(R):5'- CTCCTGGTCGTAAATGAGAATACCG -3'
Posted On 2022-08-09