Incidental Mutation 'R6415:Pcdha8'
ID 517905
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission 044557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R6415 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37127614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 699 (Y699H)
Ref Sequence ENSEMBL: ENSMUSP00000142159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000195590] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000193839]
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: Y699H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: Y699H

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: 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: 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: ENSMUST00000193984
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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Mapt G A 11: 104,189,824 (GRCm39) G265S probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Sub1 T A 15: 11,986,560 (GRCm39) M96L probably benign Het
Tanc1 T C 2: 59,667,458 (GRCm39) V1233A probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Trap1 C T 16: 3,861,856 (GRCm39) R636H possibly damaging Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly damaging 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
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 PCR Primer
(F):5'- AGACAACGTTTGCTGGTGC -3'
(R):5'- GATGGTTCTGCAGATCCAGG -3'

Sequencing Primer
(F):5'- GCTGGTGCTGGTAAAGGAC -3'
(R):5'- TTCTGCAGATCCAGGACATG -3'
Posted On 2018-05-24