Incidental Mutation 'R9350:Pcdhgb6'
ID 708044
Institutional Source Beutler Lab
Gene Symbol Pcdhgb6
Ensembl Gene ENSMUSG00000103088
Gene Name protocadherin gamma subfamily B, 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R9350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37875147-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37876872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 527 (S527T)
Ref Sequence ENSEMBL: ENSMUSP00000003599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193404] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q91XX4
Predicted Effect probably benign
Transcript: ENSMUST00000003599
AA Change: S527T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: S527T

DomainStartEndE-ValueType
CA 47 131 8.06e-6 SMART
CA 155 240 2.29e-19 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 4.94e-24 SMART
CA 474 560 7.6e-25 SMART
CA 591 672 9.18e-10 SMART
Pfam:Cadherin_C_2 687 768 3.5e-20 PFAM
Pfam:Cadherin_tail 807 930 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066149
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

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: ENSMUST00000091935
SMART Domains Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 32 132 8.37e-3 SMART
CA 156 241 5.51e-22 SMART
CA 265 346 8.27e-26 SMART
CA 370 451 1.4e-23 SMART
CA 475 561 2.97e-27 SMART
CA 592 670 1.18e-12 SMART
Pfam:Cadherin_C_2 688 772 3.9e-24 PFAM
Pfam:Cadherin_tail 809 932 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: ENSMUST00000193404
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222

DomainStartEndE-ValueType
CA 43 129 2.76e-2 SMART
CA 153 238 1.16e-20 SMART
CA 262 343 1.25e-25 SMART
CA 367 448 4.75e-26 SMART
CA 472 558 3.69e-23 SMART
CA 589 667 3.84e-12 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 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: 99.9%
  • 10x: 99.7%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,022,669 (GRCm39) M274L probably benign Het
Adarb1 T A 10: 77,158,267 (GRCm39) N60I possibly damaging Het
Adgrv1 T A 13: 81,654,274 (GRCm39) N2919I probably damaging Het
Adora3 C T 3: 105,814,613 (GRCm39) T121M possibly damaging Het
Aoc1l3 A T 6: 48,965,260 (GRCm39) N423Y probably damaging Het
Arhgap19 A T 19: 41,761,566 (GRCm39) F466Y probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atxn7l1 C T 12: 33,417,315 (GRCm39) T492I probably benign Het
B3galnt2 T C 13: 14,170,393 (GRCm39) S248P probably damaging Het
Casp2 T C 6: 42,246,332 (GRCm39) V230A probably benign Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Ctnnbl1 G A 2: 157,651,445 (GRCm39) G240E possibly damaging Het
Dennd2c T C 3: 103,039,308 (GRCm39) L152P possibly damaging Het
Dhx16 T A 17: 36,200,203 (GRCm39) F874Y probably damaging Het
Dnah14 A T 1: 181,562,369 (GRCm39) Y2643F possibly damaging Het
Dnah2 C A 11: 69,384,073 (GRCm39) V1048L probably benign Het
Dnah7a T C 1: 53,436,307 (GRCm39) I4012V probably benign Het
Duox2 G A 2: 122,115,729 (GRCm39) R1002* probably null Het
Ears2 T A 7: 121,643,786 (GRCm39) K391* probably null Het
Eif4e T C 3: 138,259,470 (GRCm39) V176A probably benign Het
Erbb4 T A 1: 68,329,638 (GRCm39) I626L probably benign Het
Fam171a1 C T 2: 3,226,037 (GRCm39) T390I probably benign Het
Fam187b A G 7: 30,677,037 (GRCm39) E182G possibly damaging Het
Fam204a A G 19: 60,209,685 (GRCm39) V15A probably benign Het
Fscn3 C T 6: 28,430,432 (GRCm39) R201* probably null Het
Fzd6 A G 15: 38,895,043 (GRCm39) D403G probably damaging Het
Gars1 G A 6: 55,029,249 (GRCm39) A210T probably null Het
Gmcl1 A T 6: 86,677,569 (GRCm39) I428N probably damaging Het
Gmip T A 8: 70,263,832 (GRCm39) I92N probably damaging Het
Il17rc G A 6: 113,456,048 (GRCm39) V298I probably damaging Het
Kifap3 A G 1: 163,610,630 (GRCm39) I37V probably benign Het
Marf1 T C 16: 13,963,789 (GRCm39) K505E probably damaging Het
Masp2 A T 4: 148,692,396 (GRCm39) probably null Het
Mmp15 G A 8: 96,093,002 (GRCm39) R127H probably damaging Het
Nrdc A G 4: 108,889,658 (GRCm39) T402A possibly damaging Het
Or10d1c A T 9: 38,894,081 (GRCm39) N86K probably benign Het
Or4k6 T A 14: 50,475,407 (GRCm39) I312L probably benign Het
Papln A T 12: 83,833,638 (GRCm39) I1185F probably damaging Het
Pcdhgb1 A G 18: 37,814,705 (GRCm39) N399D probably benign Het
Phkb T A 8: 86,743,493 (GRCm39) Y530* probably null Het
Pira2 A G 7: 3,844,030 (GRCm39) S581P probably benign Het
Pou4f3 A T 18: 42,528,329 (GRCm39) T91S probably benign Het
Prpf38a A G 4: 108,424,112 (GRCm39) S296P unknown Het
Rnf213 T C 11: 119,332,975 (GRCm39) V2729A Het
Rtl1 G A 12: 109,557,226 (GRCm39) Q1538* probably null Het
Sars2 T C 7: 28,447,273 (GRCm39) S224P probably damaging Het
Senp8 A G 9: 59,645,105 (GRCm39) V17A probably benign Het
Serpinb13 T A 1: 106,923,562 (GRCm39) L89* probably null Het
Sh3bp2 T A 5: 34,718,453 (GRCm39) probably null Het
Shank2 A G 7: 143,960,945 (GRCm39) T254A probably benign Het
Smdt1 A T 15: 82,231,504 (GRCm39) E12D probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar2 A G 10: 23,817,345 (GRCm39) N295S probably damaging Het
Trim24 A G 6: 37,892,208 (GRCm39) Q247R probably damaging Het
Trpc4 T A 3: 54,209,610 (GRCm39) N658K probably damaging Het
Ube2e1 T C 14: 18,284,348 (GRCm38) D137G probably damaging Het
Ubn1 T A 16: 4,899,422 (GRCm39) H1055Q probably benign Het
Vmn1r235 A G 17: 21,482,190 (GRCm39) T172A probably benign Het
Vps13d A G 4: 144,882,333 (GRCm39) F1087L Het
Xirp2 T C 2: 67,349,653 (GRCm39) S3283P probably damaging Het
Zeb2 C A 2: 44,887,158 (GRCm39) S633I possibly damaging Het
Other mutations in Pcdhgb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Pcdhgb6 APN 18 37,876,758 (GRCm39) missense probably damaging 1.00
R4459:Pcdhgb6 UTSW 18 37,875,759 (GRCm39) missense probably benign 0.00
R4921:Pcdhgb6 UTSW 18 37,876,525 (GRCm39) missense probably damaging 1.00
R5019:Pcdhgb6 UTSW 18 37,875,994 (GRCm39) missense probably damaging 1.00
R5391:Pcdhgb6 UTSW 18 37,875,640 (GRCm39) missense probably damaging 0.97
R5828:Pcdhgb6 UTSW 18 37,877,457 (GRCm39) missense probably benign 0.00
R6056:Pcdhgb6 UTSW 18 37,876,165 (GRCm39) missense probably benign 0.01
R6242:Pcdhgb6 UTSW 18 37,876,608 (GRCm39) missense probably benign 0.00
R6375:Pcdhgb6 UTSW 18 37,875,678 (GRCm39) missense probably damaging 0.97
R6836:Pcdhgb6 UTSW 18 37,876,015 (GRCm39) missense probably benign 0.11
R6973:Pcdhgb6 UTSW 18 37,875,526 (GRCm39) missense possibly damaging 0.64
R7185:Pcdhgb6 UTSW 18 37,876,701 (GRCm39) missense probably benign 0.42
R7994:Pcdhgb6 UTSW 18 37,875,724 (GRCm39) missense probably damaging 1.00
R8095:Pcdhgb6 UTSW 18 37,875,924 (GRCm39) missense probably benign 0.00
R8460:Pcdhgb6 UTSW 18 37,877,278 (GRCm39) missense possibly damaging 0.88
R8558:Pcdhgb6 UTSW 18 37,877,237 (GRCm39) missense probably damaging 1.00
R8699:Pcdhgb6 UTSW 18 37,875,975 (GRCm39) missense probably benign 0.12
R8808:Pcdhgb6 UTSW 18 37,876,451 (GRCm39) missense possibly damaging 0.88
R9668:Pcdhgb6 UTSW 18 37,875,561 (GRCm39) missense probably benign 0.02
R9707:Pcdhgb6 UTSW 18 37,876,768 (GRCm39) missense possibly damaging 0.49
R9765:Pcdhgb6 UTSW 18 37,876,054 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACATAGTCCATGTGGCAGAG -3'
(R):5'- TTGGTTACCAGGTATCCAGGC -3'

Sequencing Primer
(F):5'- TAGTCCATGTGGCAGAGAACAATCC -3'
(R):5'- AGGTATCCAGGCTCGGCAG -3'
Posted On 2022-04-18