Incidental Mutation 'R0751:Pcdha8'
ID 474051
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission 038931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R0751 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37127123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 535 (V535A)
Ref Sequence ENSEMBL: ENSMUSP00000142159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000194038] [ENSMUST00000195590] [ENSMUST00000193777] [ENSMUST00000193389] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000194544] [ENSMUST00000192503] [ENSMUST00000193839] [ENSMUST00000194751]
AlphaFold Q91Y12
Predicted Effect probably benign
Transcript: ENSMUST00000070797
SMART Domains Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Pfam:Cadherin_tail 797 931 5.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115659
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
CA 75 161 2.46e-2 SMART
CA 185 270 8.1e-20 SMART
CA 294 378 1.69e-22 SMART
CA 402 483 1.52e-24 SMART
CA 507 593 5.68e-24 SMART
CA 624 705 6.69e-12 SMART
transmembrane domain 727 749 N/A INTRINSIC
Pfam:Cadherin_tail 828 962 5.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115662
SMART Domains Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 916 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192168
SMART Domains Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

DomainStartEndE-ValueType
CA 21 131 2.2e-2 SMART
CA 155 240 2.05e-21 SMART
CA 264 348 8.81e-21 SMART
CA 372 453 2.01e-24 SMART
CA 477 563 1.42e-24 SMART
CA 591 673 1.63e-15 SMART
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 902 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192295
SMART Domains Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 568 5.38e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194038
AA Change: V535A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: V535A

DomainStartEndE-ValueType
CA 20 131 6.34e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 2.04e-25 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 9.88e-24 SMART
CA 594 676 8.62e-15 SMART
transmembrane domain 699 721 N/A INTRINSIC
low complexity region 914 938 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194501
Predicted Effect probably benign
Transcript: ENSMUST00000195590
SMART Domains Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193777
SMART Domains Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
low complexity region 914 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193389
SMART Domains Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192512
SMART Domains Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
low complexity region 915 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192631
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

DomainStartEndE-ValueType
CA 21 131 2.58e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 1.42e-24 SMART
CA 372 453 9.36e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 671 4.03e-6 SMART
transmembrane domain 696 718 N/A INTRINSIC
low complexity region 905 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000192503
SMART Domains Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

DomainStartEndE-ValueType
low complexity region 11 17 N/A INTRINSIC
CA 42 128 3.78e-2 SMART
CA 152 237 8.94e-22 SMART
CA 261 345 3.74e-24 SMART
CA 369 450 1.09e-25 SMART
CA 474 560 1.42e-24 SMART
CA 588 670 2.96e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 910 934 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000193839
SMART Domains Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194751
SMART Domains Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Pfam:Cadherin_2 29 112 4.5e-32 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T A 4: 132,792,707 (GRCm39) M1316K probably benign Het
Alox12 T C 11: 70,137,776 (GRCm39) I455V probably benign Het
Ankrd28 A G 14: 31,486,225 (GRCm39) L89P probably damaging Het
Aqp9 A T 9: 71,045,487 (GRCm39) C41S probably damaging Het
Arhgap17 T C 7: 122,913,913 (GRCm39) Y199C probably damaging Het
Aspm A T 1: 139,384,636 (GRCm39) probably benign Het
Cacfd1 T C 2: 26,908,993 (GRCm39) probably null Het
Cd33 T C 7: 43,181,545 (GRCm39) D205G probably damaging Het
Chadl T C 15: 81,577,258 (GRCm39) S198G probably benign Het
Chtf8 A G 8: 107,613,109 (GRCm39) probably null Het
Clec4a4 G T 6: 122,989,671 (GRCm39) W104L probably benign Het
Clock A T 5: 76,377,208 (GRCm39) I696K possibly damaging Het
Crtc2 T A 3: 90,169,940 (GRCm39) Y445* probably null Het
Dapk1 A T 13: 60,844,112 (GRCm39) I44F probably damaging Het
Dcbld2 T A 16: 58,270,204 (GRCm39) probably null Het
Derl2 T C 11: 70,905,373 (GRCm39) probably null Het
Dnah7c A G 1: 46,505,065 (GRCm39) T154A probably benign Het
Dnmt3b T A 2: 153,516,762 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,554 (GRCm39) S106T probably benign Het
Eftud2 A G 11: 102,730,079 (GRCm39) V897A probably damaging Het
Eif3l T A 15: 78,959,966 (GRCm39) probably null Het
Fbxo33 A C 12: 59,265,878 (GRCm39) F130V probably damaging Het
Ffar3 T A 7: 30,554,529 (GRCm39) N264Y probably damaging Het
Fig4 T C 10: 41,148,978 (GRCm39) D158G probably damaging Het
Fyco1 A G 9: 123,648,218 (GRCm39) F1239L probably damaging Het
Gabra2 A G 5: 71,249,442 (GRCm39) probably benign Het
Gabra6 C A 11: 42,205,844 (GRCm39) R336S probably benign Het
Hkdc1 T C 10: 62,234,452 (GRCm39) D581G probably damaging Het
Ift70a2 C T 2: 75,808,375 (GRCm39) A46T probably damaging Het
Iqgap1 A G 7: 80,375,321 (GRCm39) probably benign Het
Larp4b T C 13: 9,216,345 (GRCm39) probably benign Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Lrrc8a T C 2: 30,146,362 (GRCm39) V392A possibly damaging Het
Mavs A T 2: 131,088,684 (GRCm39) Y496F probably damaging Het
Mpi A T 9: 57,457,897 (GRCm39) S102T probably damaging Het
Mroh9 G A 1: 162,893,693 (GRCm39) R161W possibly damaging Het
Myo1h A T 5: 114,458,747 (GRCm39) S161C probably damaging Het
Napg T G 18: 63,127,409 (GRCm39) H204Q probably benign Het
Nelfcd C A 2: 174,264,807 (GRCm39) A182D probably benign Het
Ntsr2 G T 12: 16,704,031 (GRCm39) K91N probably damaging Het
Obscn A G 11: 58,972,645 (GRCm39) S2134P probably damaging Het
Ogfod2 G A 5: 124,251,539 (GRCm39) probably benign Het
Or13a19 G A 7: 139,903,238 (GRCm39) V209I probably benign Het
Or1e26 G T 11: 73,479,970 (GRCm39) T198K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3r1 T C 13: 101,822,866 (GRCm39) probably null Het
Pimreg C A 11: 71,933,939 (GRCm39) Q22K probably benign Het
Pld5 A G 1: 175,872,462 (GRCm39) I225T probably damaging Het
Plxnc1 T C 10: 94,667,195 (GRCm39) probably benign Het
Ppip5k2 A T 1: 97,677,377 (GRCm39) C306* probably null Het
Ptprc A G 1: 138,020,668 (GRCm39) Y588H probably damaging Het
Rac2 T G 15: 78,450,145 (GRCm39) D65A possibly damaging Het
Rgl3 A G 9: 21,888,676 (GRCm39) probably null Het
Serpinb1a T C 13: 33,027,199 (GRCm39) K248E probably benign Het
Serpinb9e A C 13: 33,443,757 (GRCm39) E259A probably benign Het
Slc12a4 A T 8: 106,678,532 (GRCm39) V266E probably damaging Het
Slc8b1 A G 5: 120,662,260 (GRCm39) probably benign Het
Spink6 T C 18: 44,204,605 (GRCm39) probably benign Het
Spta1 G A 1: 174,012,256 (GRCm39) R354H probably damaging Het
Ssb T A 2: 69,700,909 (GRCm39) S330T probably benign Het
Stard9 G T 2: 120,527,966 (GRCm39) V1408F probably benign Het
Sumf2 A T 5: 129,878,846 (GRCm39) T61S probably benign Het
Sypl2 T C 3: 108,124,072 (GRCm39) T157A probably damaging Het
Tgfbr3 A T 5: 107,287,749 (GRCm39) D483E probably damaging Het
Tnrc6a A G 7: 122,769,563 (GRCm39) N451S possibly damaging Het
Tradd T C 8: 105,986,403 (GRCm39) E123G probably damaging Het
Trim36 T C 18: 46,329,318 (GRCm39) T41A probably damaging Het
Ttll7 C T 3: 146,645,746 (GRCm39) P535S probably damaging Het
Ubr4 C T 4: 139,164,509 (GRCm39) probably benign Het
Uqcc5 G T 14: 30,810,953 (GRCm39) probably benign Het
Vmn1r195 A G 13: 22,463,181 (GRCm39) Y217C probably damaging Het
Vmn2r63 A C 7: 42,577,459 (GRCm39) F360V probably damaging Het
Vmn2r78 G A 7: 86,603,588 (GRCm39) V589M possibly damaging Het
Vmn2r-ps158 A G 7: 42,696,833 (GRCm39) Y630C probably damaging Het
Vrk2 A G 11: 26,433,331 (GRCm39) probably benign Het
Other mutations in Pcdha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3416:Pcdha8 UTSW 18 37,125,683 (GRCm39) missense probably benign 0.11
R3755:Pcdha8 UTSW 18 37,126,741 (GRCm39) missense probably damaging 1.00
R3756:Pcdha8 UTSW 18 37,126,741 (GRCm39) missense probably damaging 1.00
R3882:Pcdha8 UTSW 18 37,126,624 (GRCm39) missense probably benign 0.08
R3882:Pcdha8 UTSW 18 37,126,099 (GRCm39) missense probably damaging 1.00
R4036:Pcdha8 UTSW 18 37,125,914 (GRCm39) missense probably benign
R4038:Pcdha8 UTSW 18 37,125,914 (GRCm39) missense probably benign
R4204:Pcdha8 UTSW 18 37,127,737 (GRCm39) missense probably damaging 1.00
R4246:Pcdha8 UTSW 18 37,125,950 (GRCm39) missense probably damaging 1.00
R4596:Pcdha8 UTSW 18 37,126,611 (GRCm39) missense possibly damaging 0.89
R4773:Pcdha8 UTSW 18 37,127,626 (GRCm39) missense probably damaging 1.00
R5124:Pcdha8 UTSW 18 37,126,768 (GRCm39) missense probably benign 0.09
R5396:Pcdha8 UTSW 18 37,126,787 (GRCm39) missense probably damaging 0.98
R5435:Pcdha8 UTSW 18 37,126,652 (GRCm39) missense probably damaging 1.00
R5562:Pcdha8 UTSW 18 37,126,024 (GRCm39) missense possibly damaging 0.93
R5896:Pcdha8 UTSW 18 37,126,572 (GRCm39) missense probably benign 0.01
R6277:Pcdha8 UTSW 18 37,127,411 (GRCm39) missense probably damaging 0.98
R6415:Pcdha8 UTSW 18 37,127,614 (GRCm39) missense probably damaging 1.00
R6620:Pcdha8 UTSW 18 37,125,581 (GRCm39) missense probably benign 0.18
R6641:Pcdha8 UTSW 18 37,126,850 (GRCm39) missense probably damaging 1.00
R6766:Pcdha8 UTSW 18 37,127,753 (GRCm39) missense probably benign 0.00
R6807:Pcdha8 UTSW 18 37,127,401 (GRCm39) missense probably damaging 0.99
R7120:Pcdha8 UTSW 18 37,126,840 (GRCm39) missense possibly damaging 0.79
R7223:Pcdha8 UTSW 18 37,126,201 (GRCm39) missense probably benign 0.04
R7358:Pcdha8 UTSW 18 37,125,830 (GRCm39) missense probably damaging 1.00
R7701:Pcdha8 UTSW 18 37,126,864 (GRCm39) missense probably damaging 1.00
R7712:Pcdha8 UTSW 18 37,125,737 (GRCm39) missense possibly damaging 0.63
R7883:Pcdha8 UTSW 18 37,126,196 (GRCm39) missense probably damaging 0.97
R8150:Pcdha8 UTSW 18 37,126,264 (GRCm39) missense probably damaging 1.00
R8685:Pcdha8 UTSW 18 37,127,003 (GRCm39) missense probably damaging 1.00
R8705:Pcdha8 UTSW 18 37,126,906 (GRCm39) missense probably damaging 1.00
R8743:Pcdha8 UTSW 18 37,127,372 (GRCm39) missense probably benign 0.00
R8956:Pcdha8 UTSW 18 37,126,241 (GRCm39) missense probably benign 0.00
R9068:Pcdha8 UTSW 18 37,127,323 (GRCm39) missense probably damaging 1.00
R9076:Pcdha8 UTSW 18 37,126,285 (GRCm39) missense possibly damaging 0.56
R9241:Pcdha8 UTSW 18 37,127,008 (GRCm39) missense probably damaging 1.00
R9406:Pcdha8 UTSW 18 37,126,922 (GRCm39) missense probably damaging 1.00
R9467:Pcdha8 UTSW 18 37,126,843 (GRCm39) missense possibly damaging 0.62
R9512:Pcdha8 UTSW 18 37,126,624 (GRCm39) missense possibly damaging 0.85
R9550:Pcdha8 UTSW 18 37,127,399 (GRCm39) missense possibly damaging 0.94
R9607:Pcdha8 UTSW 18 37,126,217 (GRCm39) missense probably damaging 1.00
R9708:Pcdha8 UTSW 18 37,125,548 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-04-14