Incidental Mutation 'R8037:Pcdhga8'
ID 618311
Institutional Source Beutler Lab
Gene Symbol Pcdhga8
Ensembl Gene ENSMUSG00000103897
Gene Name protocadherin gamma subfamily A, 8
Synonyms
MMRRC Submission 067474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8037 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37858759-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37860071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 376 (S376P)
Ref Sequence ENSEMBL: ENSMUSP00000067728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q91XY0
Predicted Effect probably damaging
Transcript: ENSMUST00000066149
AA Change: S376P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
AA Change: S376P

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 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: 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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
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: 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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,243,904 (GRCm39) W1922C probably damaging Het
Acad11 T A 9: 103,953,035 (GRCm39) I88N possibly damaging Het
Adgrf3 A T 5: 30,404,510 (GRCm39) C309S probably damaging Het
Ankhd1 T A 18: 36,771,676 (GRCm39) V1343E probably damaging Het
Aqr A T 2: 113,992,161 (GRCm39) Y72N probably damaging Het
Bptf T C 11: 106,946,776 (GRCm39) T2339A probably damaging Het
Ccdc121rt3 A G 5: 112,502,882 (GRCm39) V274A probably benign Het
Ccr8 T C 9: 119,923,436 (GRCm39) F184L probably benign Het
Dbh A G 2: 27,055,700 (GRCm39) D58G probably damaging Het
Depdc5 T C 5: 33,116,692 (GRCm39) probably null Het
Dhdds G A 4: 133,724,158 (GRCm39) T52I probably benign Het
Dnmt1 A C 9: 20,852,860 (GRCm39) V82G probably damaging Het
Efemp2 C T 19: 5,530,141 (GRCm39) Q290* probably null Het
Eipr1 A G 12: 28,914,676 (GRCm39) S277G probably benign Het
Fam110b A G 4: 5,799,511 (GRCm39) I310V possibly damaging Het
Foxn4 T C 5: 114,394,658 (GRCm39) D423G probably damaging Het
Fsip2 T A 2: 82,816,322 (GRCm39) N4018K possibly damaging Het
Gm12887 T A 4: 121,472,887 (GRCm39) D85V probably damaging Het
Gys2 A G 6: 142,394,119 (GRCm39) V473A probably benign Het
Hnrnpu A T 1: 178,159,917 (GRCm39) F388Y unknown Het
Hoxa5 A G 6: 52,181,309 (GRCm39) S8P probably damaging Het
Ier5 A T 1: 154,975,175 (GRCm39) M1K probably null Het
Ighv1-52 A G 12: 115,109,210 (GRCm39) F83S probably damaging Het
Lrch1 T C 14: 75,023,794 (GRCm39) D577G probably damaging Het
Lrrk1 A T 7: 65,935,089 (GRCm39) M1010K probably benign Het
Mttp T G 3: 137,796,883 (GRCm39) N873T probably damaging Het
Nphs2 A G 1: 156,138,400 (GRCm39) R15G possibly damaging Het
Or4a70 A T 2: 89,324,055 (GRCm39) N200K possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8d6 T A 9: 39,854,177 (GRCm39) V207D probably damaging Het
Pde3a A G 6: 141,429,650 (GRCm39) N737S possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap6 T C 17: 26,336,509 (GRCm39) L209P possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rin1 T A 19: 5,101,852 (GRCm39) L179Q probably damaging Het
Sec63 T A 10: 42,659,483 (GRCm39) M57K probably benign Het
Senp2 C T 16: 21,832,888 (GRCm39) Q59* probably null Het
St8sia5 G A 18: 77,336,238 (GRCm39) V224I possibly damaging Het
Sycp2 A T 2: 178,045,571 (GRCm39) D16E probably damaging Het
Tab1 A G 15: 80,044,471 (GRCm39) T500A probably benign Het
Tead1 A G 7: 112,358,727 (GRCm39) D13G possibly damaging Het
Tecpr2 T C 12: 110,902,854 (GRCm39) F860L probably benign Het
Tg A G 15: 66,560,724 (GRCm39) M1029V probably benign Het
Tnni2 A G 7: 141,997,691 (GRCm39) R109G probably damaging Het
Unc79 A G 12: 103,016,178 (GRCm39) K320R probably damaging Het
Vmn1r9 T A 6: 57,047,988 (GRCm39) V21D probably benign Het
Zfp64 A G 2: 168,741,932 (GRCm39) F332S probably 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
R6130:Pcdhga8 UTSW 18 37,860,580 (GRCm39) missense possibly damaging 0.88
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
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'- GCAGTCGCTGTTGTTCCATC -3'
(R):5'- GCCACAGTCAGGGCAATATAAG -3'

Sequencing Primer
(F):5'- GTTCCATCTTCATGAAAACACGGGAG -3'
(R):5'- CACAGTCAGGGCAATATAAGTTTCAG -3'
Posted On 2020-01-23