Incidental Mutation 'R9607:Pcdha8'
ID 723972
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R9607 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37126217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 233 (L233Q)
Ref Sequence ENSEMBL: ENSMUSP00000142159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
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 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 damaging
Transcript: ENSMUST00000194038
AA Change: L233Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: L233Q

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 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: 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: 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: 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: ENSMUST00000193984
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: 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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,914,068 (GRCm39) probably null Het
Atp8a1 T C 5: 67,817,250 (GRCm39) Y927C Het
Bckdhb A G 9: 83,871,344 (GRCm39) I208V probably benign Het
Cacna1g T C 11: 94,356,714 (GRCm39) I141V probably benign Het
Celsr1 A G 15: 85,915,229 (GRCm39) S915P Het
Celsr3 G A 9: 108,717,701 (GRCm39) probably null Het
Cep295 A T 9: 15,234,009 (GRCm39) D2262E probably damaging Het
Chil3 T C 3: 106,067,685 (GRCm39) K160R probably null Het
Cmtr1 G T 17: 29,893,196 (GRCm39) A72S probably benign Het
Cpa5 T C 6: 30,626,338 (GRCm39) F233S probably damaging Het
Creb3l3 G A 10: 80,920,735 (GRCm39) R432W probably damaging Het
Csdc2 A G 15: 81,831,088 (GRCm39) D45G possibly damaging Het
Csmd3 G T 15: 47,618,811 (GRCm39) T1859K probably damaging Het
Cxxc1 T C 18: 74,353,479 (GRCm39) probably null Het
Dcc A G 18: 71,721,072 (GRCm39) S430P probably damaging Het
Dera T G 6: 137,833,732 (GRCm39) S270A unknown Het
Dnaaf1 A G 8: 120,309,350 (GRCm39) E146G possibly damaging Het
Dsg4 A T 18: 20,586,047 (GRCm39) T246S probably benign Het
Eif4g3 A G 4: 137,893,045 (GRCm39) E766G probably benign Het
Ep400 A C 5: 110,831,805 (GRCm39) C2146G unknown Het
Epas1 A T 17: 87,134,038 (GRCm39) T516S probably benign Het
Espn A G 4: 152,219,939 (GRCm39) S395P probably benign Het
Fam124b T A 1: 80,190,813 (GRCm39) Q190L probably damaging Het
Filip1 T A 9: 79,726,402 (GRCm39) D739V probably damaging Het
Flg2 A G 3: 93,108,719 (GRCm39) Y249C probably damaging Het
Gon4l T A 3: 88,765,751 (GRCm39) S391T probably damaging Het
Hoxa5 G T 6: 52,181,196 (GRCm39) Y45* probably null Het
Ift172 A G 5: 31,410,913 (GRCm39) F1715S Het
Klhdc9 T A 1: 171,187,124 (GRCm39) H262L probably damaging Het
Krt16 C A 11: 100,138,453 (GRCm39) D232Y probably damaging Het
Lrrd1 A G 5: 3,901,561 (GRCm39) E622G probably damaging Het
Mars1 A T 10: 127,144,493 (GRCm39) C182* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Msrb2 C A 2: 19,399,130 (GRCm39) N164K probably damaging Het
Mtcl2 T G 2: 156,869,488 (GRCm39) E1049A probably damaging Het
Muc2 T A 7: 141,305,190 (GRCm39) C604S Het
Mup17 T C 4: 61,511,903 (GRCm39) I124V probably benign Het
Myo18b T C 5: 113,022,544 (GRCm39) M283V unknown Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nepro T C 16: 44,551,832 (GRCm39) L230P probably damaging Het
Nes A G 3: 87,883,513 (GRCm39) N591D probably benign Het
Nfrkb T C 9: 31,326,066 (GRCm39) S1170P possibly damaging Het
Nphs1 A T 7: 30,163,012 (GRCm39) T430S probably damaging Het
Nrp1 T C 8: 129,152,262 (GRCm39) V157A probably benign Het
Nup188 T A 2: 30,197,724 (GRCm39) D259E probably benign Het
Or52n5 T C 7: 104,588,207 (GRCm39) M158T probably benign Het
Or5b109 A T 19: 13,211,953 (GRCm39) N113I Het
Or8b1c A G 9: 38,384,913 (GRCm39) Y290C probably damaging Het
Or9s18 G T 13: 65,300,885 (GRCm39) M282I probably benign Het
Pcdhga12 T A 18: 37,901,389 (GRCm39) F740L probably damaging Het
Pglyrp4 G A 3: 90,638,151 (GRCm39) G155D probably damaging Het
Piezo2 G A 18: 63,519,347 (GRCm39) probably benign Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Ppil1 A T 17: 29,470,481 (GRCm39) *167K probably null Het
Prdm10 G T 9: 31,260,486 (GRCm39) D647Y probably damaging Het
Prkn A G 17: 12,222,963 (GRCm39) Y371C probably damaging Het
Prrc2b T A 2: 32,098,794 (GRCm39) I702N probably damaging Het
Rnf26rt A T 6: 76,473,923 (GRCm39) L231* probably null Het
Rtp4 T A 16: 23,339,226 (GRCm39) probably null Het
Sema6c A G 3: 95,076,545 (GRCm39) H277R probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc41a2 A G 10: 83,119,631 (GRCm39) L377P probably damaging Het
Svil T C 18: 5,058,126 (GRCm39) Y630H possibly damaging Het
Tbata A G 10: 61,011,626 (GRCm39) H54R probably benign Het
Tnfaip2 C A 12: 111,412,069 (GRCm39) Q157K possibly damaging Het
Trappc14 T C 5: 138,259,862 (GRCm39) D398G probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn2r74 T A 7: 85,610,619 (GRCm39) R24S probably benign Het
Vmn2r90 G A 17: 17,953,638 (GRCm39) V601M possibly damaging Het
Vmn2r-ps117 A G 17: 19,043,940 (GRCm39) T339A probably benign Het
Xirp2 C T 2: 67,341,106 (GRCm39) H1116Y possibly damaging Het
Xrcc1 A G 7: 24,265,690 (GRCm39) D156G probably benign Het
Other mutations in Pcdha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0751:Pcdha8 UTSW 18 37,127,123 (GRCm39) missense probably damaging 0.98
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
R9708:Pcdha8 UTSW 18 37,125,548 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTTCCAATGCTCTGCTGAC -3'
(R):5'- CTCCACTCACAGTGTCCATGTG -3'

Sequencing Primer
(F):5'- GAGCACCAATGAACATTTCTCTCTGG -3'
(R):5'- TCCATGTGGAACTTGGATTTTATATC -3'
Posted On 2022-09-12