Incidental Mutation 'R9068:Pcdha8'
ID 689397
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission 068892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R9068 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37127323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 602 (G602C)
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: G602C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: G602C

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,075,828 (GRCm39) I770V probably benign Het
Abtb3 C A 10: 85,223,762 (GRCm39) N190K unknown Het
Actr10 T C 12: 70,989,073 (GRCm39) L64S probably damaging Het
Adam22 T C 5: 8,177,343 (GRCm39) T589A probably benign Het
Akr1b7 T C 6: 34,395,977 (GRCm39) S160P probably damaging Het
Ankrd52 C T 10: 128,217,850 (GRCm39) H277Y probably damaging Het
Cc2d1b T A 4: 108,482,062 (GRCm39) L112Q probably damaging Het
Cd200r3 T A 16: 44,773,750 (GRCm39) probably benign Het
Clec3a A G 8: 115,152,375 (GRCm39) D127G probably damaging Het
Cnnm3 T C 1: 36,551,962 (GRCm39) L324P probably damaging Het
Cspp1 T C 1: 10,147,469 (GRCm39) probably null Het
Cwf19l1 C T 19: 44,124,274 (GRCm39) probably benign Het
Cyp26b1 G A 6: 84,551,379 (GRCm39) T470I probably damaging Het
Dedd2 A G 7: 24,917,092 (GRCm39) V110A probably benign Het
Dnah8 A G 17: 30,975,729 (GRCm39) I2866M possibly damaging Het
Dpp10 T C 1: 123,360,667 (GRCm39) Y286C probably damaging Het
Efna2 C T 10: 80,024,524 (GRCm39) P177L probably damaging Het
Fbxo46 A G 7: 18,869,325 (GRCm39) probably benign Het
Gdpd5 A T 7: 99,108,048 (GRCm39) T542S probably benign Het
Gm136 T G 4: 34,750,928 (GRCm39) D115A possibly damaging Het
Gm7356 T A 17: 14,221,687 (GRCm39) K114I possibly damaging Het
Gpr180 G T 14: 118,385,658 (GRCm39) E157* probably null Het
Grk4 T C 5: 34,905,653 (GRCm39) I466T Het
Hic1 A G 11: 75,060,332 (GRCm39) M5T unknown Het
Hmcn2 C A 2: 31,303,685 (GRCm39) N3058K probably benign Het
Htr5a T A 5: 28,055,799 (GRCm39) H263Q probably benign Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Map3k8 A T 18: 4,340,557 (GRCm39) H252Q probably benign Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Naa16 A T 14: 79,612,289 (GRCm39) M233K probably benign Het
Napsa A T 7: 44,235,223 (GRCm39) D336V probably damaging Het
Neurod1 T A 2: 79,285,218 (GRCm39) N55I possibly damaging Het
Or10d5 A T 9: 39,862,087 (GRCm39) probably benign Het
Or4c115 A T 2: 88,927,369 (GRCm39) C301S probably benign Het
Or5an9 T C 19: 12,187,703 (GRCm39) F258L probably damaging Het
Or8b12 T A 9: 37,657,963 (GRCm39) C178S probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pigr G A 1: 130,774,231 (GRCm39) V404M probably damaging Het
Plch1 G A 3: 63,612,036 (GRCm39) P803L probably damaging Het
Ppp4r3b T A 11: 29,159,396 (GRCm39) F583L probably benign Het
Rit2 A T 18: 31,108,468 (GRCm39) D172E possibly damaging Het
Skint4 C T 4: 112,022,932 (GRCm39) P476S possibly damaging Het
Slco2b1 A G 7: 99,320,171 (GRCm39) V353A probably benign Het
Slit3 A G 11: 35,574,917 (GRCm39) D1077G probably damaging Het
Sun2 A G 15: 79,612,252 (GRCm39) F478L probably benign Het
Syt6 C A 3: 103,494,825 (GRCm39) C263* probably null Het
Tfpi C A 2: 84,273,235 (GRCm39) L229F unknown Het
Tmem131l A T 3: 83,817,775 (GRCm39) C1242S probably benign Het
Ttc3 T A 16: 94,204,219 (GRCm39) W280R probably damaging Het
Uncx A G 5: 139,532,573 (GRCm39) K213E possibly damaging Het
Usp24 T C 4: 106,232,875 (GRCm39) L887P probably benign Het
Vmn1r178 A T 7: 23,593,404 (GRCm39) I151F probably damaging Het
Vmn2r50 G T 7: 9,772,061 (GRCm39) Q547K possibly damaging Het
Vwf A G 6: 125,625,792 (GRCm39) probably benign Het
Wdfy3 A T 5: 102,000,451 (GRCm39) V2973D probably benign Het
Zbtb49 T C 5: 38,358,289 (GRCm39) M655V probably benign Het
Zc3h3 C T 15: 75,711,499 (GRCm39) A321T probably benign Het
Zeb2 T A 2: 45,000,040 (GRCm39) R65W possibly damaging Het
Zfp541 A G 7: 15,812,376 (GRCm39) E343G probably damaging Het
Zfp775 C A 6: 48,597,151 (GRCm39) R342S probably damaging Het
Zwilch A G 9: 64,075,942 (GRCm39) F27L 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
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'- TGGGCAGCAATGTGACTCTG -3'
(R):5'- ACTAAAGATGGCTCTGGCAC -3'

Sequencing Primer
(F):5'- CAGCAATGTGACTCTGCAGGTG -3'
(R):5'- TGGCCACTTTCCACTAGAGAC -3'
Posted On 2021-11-19