Incidental Mutation 'R8460:Pcdhgb6'
ID 655245
Institutional Source Beutler Lab
Gene Symbol Pcdhgb6
Ensembl Gene ENSMUSG00000103088
Gene Name protocadherin gamma subfamily B, 6
Synonyms
MMRRC Submission 067905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R8460 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37875147-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37877278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 662 (L662Q)
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 possibly damaging
Transcript: ENSMUST00000003599
AA Change: L662Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: L662Q

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: 99.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
6030458C11Rik T C 15: 12,818,545 (GRCm39) probably benign Het
Abcb11 T C 2: 69,154,381 (GRCm39) M62V possibly damaging Het
Adgrf5 C A 17: 43,750,699 (GRCm39) probably benign Het
Arhgap23 T A 11: 97,343,197 (GRCm39) V493D probably damaging Het
Atg9b T C 5: 24,591,966 (GRCm39) K678E probably damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Cd180 T C 13: 102,839,354 (GRCm39) L79P probably damaging Het
Celsr2 C T 3: 108,304,093 (GRCm39) S2350N possibly damaging Het
Cep85l C A 10: 53,225,313 (GRCm39) R92L probably benign Het
Cyp21a1 T C 17: 35,021,844 (GRCm39) D241G probably benign Het
Dock2 C A 11: 34,180,825 (GRCm39) probably null Het
Fam163a A G 1: 155,955,712 (GRCm39) Y27H probably damaging Het
Gmnc G A 16: 26,779,204 (GRCm39) L274F probably benign Het
Gpc2 A T 5: 138,274,891 (GRCm39) C283S probably damaging Het
Grm5 A G 7: 87,252,249 (GRCm39) I166M probably damaging Het
Ighv3-1 A T 12: 113,928,056 (GRCm39) L101* probably null Het
Impact C T 18: 13,109,564 (GRCm39) S86L probably benign Het
Kif1b C T 4: 149,272,077 (GRCm39) V1575I possibly damaging Het
Klhl6 A G 16: 19,775,781 (GRCm39) V259A probably damaging Het
Krt81 G T 15: 101,361,493 (GRCm39) A29E probably damaging Het
Ldah A G 12: 8,318,548 (GRCm39) N219S probably benign Het
Map3k12 C T 15: 102,410,032 (GRCm39) R581Q probably damaging Het
Marveld3 T C 8: 110,681,040 (GRCm39) D285G probably benign Het
Mcpt2 A G 14: 56,281,201 (GRCm39) D135G possibly damaging Het
Megf6 T A 4: 154,350,634 (GRCm39) C1048* probably null Het
Megf9 A T 4: 70,374,208 (GRCm39) V276D probably damaging Het
Nfya T C 17: 48,698,974 (GRCm39) H273R possibly damaging Het
Olah T A 2: 3,362,762 (GRCm39) Q21H probably damaging Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or51t4 T A 7: 102,598,531 (GRCm39) C286* probably null Het
Or7g21 T C 9: 19,032,988 (GRCm39) S243P probably damaging Het
Or8b47 A T 9: 38,427,926 (GRCm39) probably benign Het
Or8k23 T G 2: 86,186,198 (GRCm39) H176P probably damaging Het
Or9s23 T A 1: 92,501,268 (GRCm39) M125K probably damaging Het
Pou4f3 T C 18: 42,529,053 (GRCm39) M332T probably damaging Het
Pramel19 C T 4: 101,798,424 (GRCm39) P132S probably benign Het
Pramel58 T A 5: 94,831,790 (GRCm39) C266S probably benign Het
Prg4 G A 1: 150,331,692 (GRCm39) S327L possibly damaging Het
Rdh5 C T 10: 128,754,136 (GRCm39) R99H probably benign Het
Setd1a T C 7: 127,383,292 (GRCm39) F263L unknown Het
Setd2 A G 9: 110,423,338 (GRCm39) N353S Het
Sh3gl1 T C 17: 56,326,321 (GRCm39) N109S probably benign Het
Sidt1 A T 16: 44,107,705 (GRCm39) Y188* probably null Het
Slc25a13 A T 6: 6,073,513 (GRCm39) N448K probably damaging Het
Slc44a5 G A 3: 153,975,667 (GRCm39) V693M probably benign Het
Smad7 T C 18: 75,503,968 (GRCm39) S206P probably damaging Het
Snx33 T A 9: 56,833,476 (GRCm39) I198F possibly damaging Het
Vps13d A T 4: 144,897,009 (GRCm39) probably benign Het
Vps33b T C 7: 79,937,617 (GRCm39) V455A probably benign Het
Zdbf2 CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG CGCTCCGTGCCCCCCGCG 1: 63,348,729 (GRCm39) probably benign Het
Zfp26 A T 9: 20,348,373 (GRCm39) H730Q probably 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
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
R9350:Pcdhgb6 UTSW 18 37,876,872 (GRCm39) missense probably benign 0.00
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'- TGTCTTACCACGTGCTGCAG -3'
(R):5'- TTGAGAGAAACCCCTGGTCTAGC -3'

Sequencing Primer
(F):5'- CTGCAGGCCAGCGATCC -3'
(R):5'- GAGAAACCCCTGGTCTAGCCTTAG -3'
Posted On 2020-10-20