Incidental Mutation 'R6130:Pcdhga8'
ID 487111
Institutional Source Beutler Lab
Gene Symbol Pcdhga8
Ensembl Gene ENSMUSG00000103897
Gene Name protocadherin gamma subfamily A, 8
Synonyms
MMRRC Submission 044277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6130 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37858759-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37860580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 545 (N545K)
Ref Sequence ENSEMBL: ENSMUSP00000067728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000195112] [ENSMUST00000193869] [ENSMUST00000195363] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000195823] [ENSMUST00000193414] [ENSMUST00000194544]
AlphaFold Q91XY0
Predicted Effect possibly damaging
Transcript: ENSMUST00000066149
AA Change: N545K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
AA Change: N545K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 31 131 4.84e-2 SMART
CA 155 240 1.48e-22 SMART
CA 264 345 1.14e-23 SMART
CA 369 450 9.44e-21 SMART
CA 474 560 1.03e-26 SMART
CA 591 669 3.64e-13 SMART
Pfam:Cadherin_C_2 688 772 3e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073447
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 42 128 2.15e-2 SMART
CA 152 237 4.8e-13 SMART
CA 261 342 9.36e-25 SMART
CA 366 447 6.62e-25 SMART
CA 471 557 6.72e-26 SMART
CA 588 666 2.15e-15 SMART
Pfam:Cadherin_C_2 685 768 4.8e-24 PFAM
Pfam:Cadherin_tail 805 928 8.1e-38 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: ENSMUST00000192511
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

DomainStartEndE-ValueType
CA 47 133 1.57e-2 SMART
CA 157 242 3.24e-19 SMART
CA 266 347 3.21e-23 SMART
CA 371 452 9.08e-23 SMART
CA 476 562 1.32e-24 SMART
CA 593 671 3.5e-15 SMART
transmembrane domain 694 716 N/A INTRINSIC
low complexity region 916 935 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192535
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 8e-3 SMART
CA 155 240 2.49e-20 SMART
CA 264 341 4.97e-29 SMART
CA 365 446 1.09e-25 SMART
CA 470 556 1.75e-24 SMART
CA 587 668 9.18e-10 SMART
transmembrane domain 687 709 N/A INTRINSIC
low complexity region 907 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192931
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

DomainStartEndE-ValueType
CA 36 119 8e-3 SMART
CA 143 228 1.34e-20 SMART
CA 252 333 1.52e-24 SMART
CA 357 438 9.22e-24 SMART
CA 462 548 1.24e-24 SMART
CA 579 660 1.3e-9 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193815
Predicted Effect probably benign
Transcript: ENSMUST00000195112
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

DomainStartEndE-ValueType
CA 24 130 8.18e-3 SMART
CA 154 239 1.39e-18 SMART
CA 263 344 7.91e-23 SMART
CA 368 449 2.27e-23 SMART
CA 473 559 1.24e-24 SMART
CA 590 671 1.3e-9 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 909 928 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193869
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 45 131 1.64e-2 SMART
CA 155 240 6.42e-23 SMART
CA 264 345 1.76e-20 SMART
CA 369 450 2.27e-23 SMART
CA 474 560 1.5e-23 SMART
CA 591 669 1.17e-16 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000195363
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 1.47e-2 SMART
CA 155 240 1.23e-19 SMART
CA 264 343 5.54e-27 SMART
CA 367 448 5.09e-26 SMART
CA 472 558 1.98e-23 SMART
CA 589 670 1.3e-9 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194190
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 31 131 3.16e-2 SMART
CA 155 240 5.39e-16 SMART
CA 264 345 6.72e-26 SMART
CA 369 450 1.32e-24 SMART
CA 474 560 4.17e-22 SMART
CA 591 669 4.48e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194418
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

DomainStartEndE-ValueType
CA 44 130 1.64e-2 SMART
CA 154 239 3.93e-18 SMART
CA 263 344 5.22e-23 SMART
CA 368 449 5.02e-25 SMART
CA 473 559 2.07e-26 SMART
CA 590 668 6.84e-18 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195823
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
CA 45 131 2.41e-2 SMART
CA 155 240 5.77e-16 SMART
CA 264 345 1.1e-21 SMART
CA 369 450 2.75e-22 SMART
low complexity region 453 462 N/A INTRINSIC
CA 474 560 9.22e-24 SMART
CA 591 669 2.4e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193414
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

DomainStartEndE-ValueType
CA 45 131 2.45e-1 SMART
CA 155 240 1.05e-18 SMART
CA 264 345 6.52e-24 SMART
CA 369 450 5.99e-23 SMART
CA 474 560 6.99e-24 SMART
CA 591 669 5.31e-15 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 96% (46/48)
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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abi3 T A 11: 95,727,921 (GRCm39) E90V probably damaging Het
Adgrv1 A C 13: 81,575,864 (GRCm39) V4834G probably damaging Het
Aen A T 7: 78,552,387 (GRCm39) probably null Het
Ankrd55 A G 13: 112,454,980 (GRCm39) D26G probably damaging Het
Antxr2 T C 5: 98,152,131 (GRCm39) E160G possibly damaging Het
Auts2 T C 5: 131,469,061 (GRCm39) H528R probably damaging Het
Casd1 A G 6: 4,641,948 (GRCm39) T742A probably damaging Het
Ccdc39 T C 3: 33,895,341 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,650 (GRCm39) Y60H probably damaging Het
Dennd4b T C 3: 90,183,566 (GRCm39) L935P probably damaging Het
Dnah6 T A 6: 73,165,477 (GRCm39) T543S probably benign Het
Dnai3 A C 3: 145,748,559 (GRCm39) Y852D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fdxacb1 C T 9: 50,683,902 (GRCm39) R420* probably null Het
Flg A G 3: 93,200,023 (GRCm39) probably benign Het
Fpr1 T A 17: 18,097,897 (GRCm39) I31F probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gsta1 T A 9: 78,149,847 (GRCm39) F220Y probably damaging Het
Hmg20a T A 9: 56,395,891 (GRCm39) probably null Het
Igf2bp1 A C 11: 95,864,846 (GRCm39) L201R probably damaging Het
Jph3 G A 8: 122,479,826 (GRCm39) R168H probably damaging Het
Kif1a T A 1: 92,964,623 (GRCm39) I1318F probably damaging Het
Lamc2 T C 1: 153,012,523 (GRCm39) N717S probably benign Het
Lepr A T 4: 101,622,569 (GRCm39) S450C probably damaging Het
Muc16 A G 9: 18,501,994 (GRCm39) V6535A probably damaging Het
Myom3 A G 4: 135,489,882 (GRCm39) T18A probably benign Het
Nlrp5 A G 7: 23,103,598 (GRCm39) K22E probably benign Het
Obscn A C 11: 58,968,771 (GRCm39) S2534A possibly damaging Het
Or1j21 A T 2: 36,684,055 (GRCm39) D269V probably benign Het
Or2ak5 A G 11: 58,611,133 (GRCm39) V247A probably damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Saxo4 G A 19: 10,455,128 (GRCm39) P233L probably benign Het
Scap A G 9: 110,209,447 (GRCm39) T707A possibly damaging Het
Scarf1 A G 11: 75,416,565 (GRCm39) Q669R probably benign Het
Scin T C 12: 40,119,435 (GRCm39) D531G probably benign Het
Sh2b3 T C 5: 121,953,626 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,155 (GRCm39) S657G probably benign Het
Stil T A 4: 114,887,058 (GRCm39) probably null Het
Syna T A 5: 134,587,122 (GRCm39) Q609L possibly damaging Het
Tmem59l A G 8: 70,937,255 (GRCm39) S271P probably damaging Het
Tns2 A G 15: 102,019,676 (GRCm39) E522G probably damaging Het
Trappc6a G A 7: 19,249,219 (GRCm39) A149T probably benign Het
Trim21 A T 7: 102,212,498 (GRCm39) L156H possibly damaging Het
Trpv3 A G 11: 73,187,309 (GRCm39) R714G possibly damaging Het
Zfp87 T A 13: 74,520,460 (GRCm39) Q206L possibly damaging Het
Other mutations in Pcdhga8
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1patch:Pcdhga8 UTSW 18 37,860,315 (GRCm39) missense probably damaging 1.00
R4017:Pcdhga8 UTSW 18 37,948,791 (GRCm39) missense probably damaging 1.00
R4182:Pcdhga8 UTSW 18 37,860,336 (GRCm39) missense probably damaging 1.00
R4504:Pcdhga8 UTSW 18 37,949,816 (GRCm39) missense probably damaging 0.97
R4506:Pcdhga8 UTSW 18 37,949,816 (GRCm39) missense probably damaging 0.97
R4850:Pcdhga8 UTSW 18 37,860,762 (GRCm39) missense probably damaging 1.00
R4851:Pcdhga8 UTSW 18 37,949,457 (GRCm39) missense probably damaging 0.99
R4857:Pcdhga8 UTSW 18 37,859,967 (GRCm39) missense probably damaging 1.00
R4902:Pcdhga8 UTSW 18 37,948,978 (GRCm39) missense probably damaging 1.00
R5235:Pcdhga8 UTSW 18 37,860,488 (GRCm39) missense probably damaging 1.00
R5254:Pcdhga8 UTSW 18 37,859,673 (GRCm39) missense probably benign 0.01
R5646:Pcdhga8 UTSW 18 37,859,823 (GRCm39) missense probably benign
R5943:Pcdhga8 UTSW 18 37,949,565 (GRCm39) missense probably damaging 1.00
R6115:Pcdhga8 UTSW 18 37,860,596 (GRCm39) missense possibly damaging 0.79
R6631:Pcdhga8 UTSW 18 37,860,109 (GRCm39) missense probably benign
R6725:Pcdhga8 UTSW 18 37,860,315 (GRCm39) missense probably damaging 1.00
R6915:Pcdhga8 UTSW 18 37,858,998 (GRCm39) missense probably benign 0.01
R7000:Pcdhga8 UTSW 18 37,859,946 (GRCm39) missense probably benign 0.11
R7027:Pcdhga8 UTSW 18 37,860,164 (GRCm39) missense probably benign
R7406:Pcdhga8 UTSW 18 37,859,238 (GRCm39) missense possibly damaging 0.93
R7481:Pcdhga8 UTSW 18 37,860,990 (GRCm39) missense probably benign
R7491:Pcdhga8 UTSW 18 37,860,483 (GRCm39) missense probably benign 0.00
R7625:Pcdhga8 UTSW 18 37,859,954 (GRCm39) missense probably benign 0.05
R7712:Pcdhga8 UTSW 18 37,860,102 (GRCm39) missense possibly damaging 0.67
R7740:Pcdhga8 UTSW 18 37,860,470 (GRCm39) missense probably benign 0.22
R7912:Pcdhga8 UTSW 18 37,859,896 (GRCm39) missense probably benign 0.00
R7917:Pcdhga8 UTSW 18 37,860,669 (GRCm39) missense possibly damaging 0.94
R8017:Pcdhga8 UTSW 18 37,860,783 (GRCm39) missense probably damaging 1.00
R8037:Pcdhga8 UTSW 18 37,860,071 (GRCm39) missense probably damaging 1.00
R8066:Pcdhga8 UTSW 18 37,859,435 (GRCm39) missense probably benign 0.00
R8228:Pcdhga8 UTSW 18 37,861,236 (GRCm39) missense probably benign
R8744:Pcdhga8 UTSW 18 37,860,827 (GRCm39) missense probably damaging 1.00
R8938:Pcdhga8 UTSW 18 37,859,955 (GRCm39) missense probably damaging 1.00
R9013:Pcdhga8 UTSW 18 37,858,997 (GRCm39) missense probably benign
R9160:Pcdhga8 UTSW 18 37,860,465 (GRCm39) missense probably damaging 1.00
R9178:Pcdhga8 UTSW 18 37,860,892 (GRCm39) missense probably benign 0.06
R9192:Pcdhga8 UTSW 18 37,859,163 (GRCm39) missense probably damaging 1.00
R9360:Pcdhga8 UTSW 18 37,859,787 (GRCm39) missense probably damaging 1.00
R9650:Pcdhga8 UTSW 18 37,860,519 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TCATTGACTGCACATGACCC -3'
(R):5'- AGGACAGCCAAGCATTCTG -3'

Sequencing Primer
(F):5'- GAGAATGCCCAGGTCACTTACTCTG -3'
(R):5'- AGCCAAGCATTCTGTCCCGAG -3'
Posted On 2017-10-10