Incidental Mutation 'R6807:Pcdha8'
ID 533630
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission 044920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R6807 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37127401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 628 (T628A)
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: T628A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: T628A

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
Meta Mutation Damage Score 0.8404 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.9%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,282,356 (GRCm39) T2158A probably benign Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apol7a T C 15: 77,277,520 (GRCm39) probably null Het
Bicdl1 C T 5: 115,810,202 (GRCm39) probably null Het
Bop1 T A 15: 76,339,183 (GRCm39) Q362L probably damaging Het
C4b T C 17: 34,949,930 (GRCm39) D1418G probably benign Het
Cdh23 A G 10: 60,214,650 (GRCm39) V1455A possibly damaging Het
Cecr2 T G 6: 120,711,503 (GRCm39) probably null Het
Cer1 T C 4: 82,801,052 (GRCm39) S204G probably benign Het
Cers3 G C 7: 66,413,968 (GRCm39) W15C probably damaging Het
Csn1s2a A T 5: 87,929,731 (GRCm39) H110L probably benign Het
Dnah10 T G 5: 124,867,064 (GRCm39) probably null Het
Dync2h1 T C 9: 7,041,718 (GRCm39) N3315S probably benign Het
Dynlrb2 T C 8: 117,234,299 (GRCm39) M21T probably benign Het
Emilin1 T A 5: 31,072,871 (GRCm39) F103I probably benign Het
Esrra T A 19: 6,889,142 (GRCm39) M416L probably benign Het
Etaa1 C A 11: 17,902,680 (GRCm39) V86L probably benign Het
Extl3 A G 14: 65,314,211 (GRCm39) S324P probably damaging Het
Fam90a1a T C 8: 22,453,368 (GRCm39) V241A probably benign Het
Fat4 C A 3: 39,036,589 (GRCm39) Q3414K probably benign Het
Gpr162 C T 6: 124,838,164 (GRCm39) R162H probably damaging Het
Gpr21 T A 2: 37,407,974 (GRCm39) Y173* probably null Het
Gprc6a G A 10: 51,502,841 (GRCm39) Q341* probably null Het
Herc2 T A 7: 55,814,670 (GRCm39) S2674R probably damaging Het
Hnrnpdl A T 5: 100,186,995 (GRCm39) H9Q probably null Het
Hps1 A G 19: 42,759,217 (GRCm39) V125A possibly damaging Het
Iba57 G T 11: 59,049,440 (GRCm39) P243H probably damaging Het
Incenp G T 19: 9,855,120 (GRCm39) A597E unknown Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Klb G A 5: 65,536,877 (GRCm39) V736M probably damaging Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Krt73 T G 15: 101,704,842 (GRCm39) E348A probably damaging Het
Lig3 T A 11: 82,674,577 (GRCm39) D134E probably benign Het
Limd2 T C 11: 106,049,771 (GRCm39) T73A probably benign Het
Lrpprc A G 17: 85,056,531 (GRCm39) S787P possibly damaging Het
Macf1 A G 4: 123,268,208 (GRCm39) M6735T probably damaging Het
Mapkbp1 C A 2: 119,851,640 (GRCm39) Q861K probably damaging Het
Mc4r T A 18: 66,992,927 (GRCm39) N62I probably damaging Het
Metap1d G A 2: 71,341,858 (GRCm39) V151I probably damaging Het
Nek2 T C 1: 191,554,729 (GRCm39) V147A probably damaging Het
Nlrp1b A T 11: 71,108,530 (GRCm39) W324R probably damaging Het
Nol4l G T 2: 153,325,746 (GRCm39) S113* probably null Het
Oc90 T A 15: 65,761,463 (GRCm39) D185V probably damaging Het
Or2a52 T C 6: 43,144,172 (GRCm39) F60S probably damaging Het
Or2v1 G A 11: 49,025,805 (GRCm39) R262K probably damaging Het
Or4a71 G A 2: 89,357,932 (GRCm39) T274M probably damaging Het
Or5m13 A T 2: 85,748,382 (GRCm39) T38S possibly damaging Het
Or5p51 T A 7: 107,444,797 (GRCm39) T48S possibly damaging Het
Or8g50 A T 9: 39,648,914 (GRCm39) K268* probably null Het
Pcsk5 A T 19: 17,549,986 (GRCm39) probably null Het
Pdgfrb T C 18: 61,211,721 (GRCm39) probably null Het
Pgm3 A T 9: 86,438,555 (GRCm39) probably null Het
Pin1rt1 T A 2: 104,545,063 (GRCm39) Y23F probably benign Het
Poli T A 18: 70,663,222 (GRCm39) probably null Het
Pom121 C A 5: 135,409,978 (GRCm39) probably benign Het
Ppp2r5c A G 12: 110,535,456 (GRCm39) D407G possibly damaging Het
Pramel28 A G 4: 143,691,581 (GRCm39) S381P probably damaging Het
Rgs12 A G 5: 35,180,515 (GRCm39) D116G probably null Het
Serpina3b A T 12: 104,099,251 (GRCm39) E255D probably benign Het
Sft2d1rt T C 11: 45,942,859 (GRCm39) Q88R probably damaging Het
Slc46a1 A G 11: 78,357,790 (GRCm39) H281R probably damaging Het
Spata6 T C 4: 111,642,012 (GRCm39) I294T probably benign Het
Srgap1 T A 10: 121,664,631 (GRCm39) probably null Het
Stag1 C T 9: 100,826,903 (GRCm39) R957C probably damaging Het
Stk35 G A 2: 129,643,573 (GRCm39) E186K probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,544,478 (GRCm39) V2165I probably damaging Het
Tmem53 T C 4: 117,125,528 (GRCm39) S207P probably benign Het
Ugt2a3 A G 5: 87,484,617 (GRCm39) F136L probably benign Het
Unc13d T C 11: 115,957,577 (GRCm39) K795E probably damaging Het
Zbtb11 C A 16: 55,810,865 (GRCm39) T341K 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
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 PCR Primer
(F):5'- GTTTGTGCTGGATGAGAACGAC -3'
(R):5'- TAACACCCACAGAGGATCGG -3'

Sequencing Primer
(F):5'- ACGACAATGTGCCGATGTTGC -3'
(R):5'- GGACGAGGTCTTTGGAGCC -3'
Posted On 2018-09-12