Incidental Mutation 'R4921:Pcdhgb6'
ID 378652
Institutional Source Beutler Lab
Gene Symbol Pcdhgb6
Ensembl Gene ENSMUSG00000103088
Gene Name protocadherin gamma subfamily B, 6
Synonyms
MMRRC Submission 042523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R4921 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37742094-37841873 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37743472 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 411 (D411G)
Ref Sequence ENSEMBL: ENSMUSP00000003599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193404] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000195823] [ENSMUST00000194190] [ENSMUST00000195112] [ENSMUST00000194418] [ENSMUST00000195363] [ENSMUST00000194544]
AlphaFold Q91XX4
Predicted Effect probably damaging
Transcript: ENSMUST00000003599
AA Change: D411G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: D411G

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 noncoding transcript
Transcript: ENSMUST00000180931
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 noncoding transcript
Transcript: ENSMUST00000194814
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: 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: 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: 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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,737,796 (GRCm38) N65K probably benign Het
Abcc9 T C 6: 142,590,436 (GRCm38) Y1524C probably benign Het
Acap1 A G 11: 69,887,193 (GRCm38) I102T probably damaging Het
Acvr2a T C 2: 48,893,541 (GRCm38) V284A possibly damaging Het
Adam3 T C 8: 24,684,614 (GRCm38) M712V probably benign Het
Adck1 T C 12: 88,441,138 (GRCm38) V213A probably benign Het
Adgrl3 G T 5: 81,512,110 (GRCm38) W242L probably damaging Het
Alk T C 17: 71,904,315 (GRCm38) T857A probably benign Het
Alms1 A G 6: 85,628,546 (GRCm38) T2393A probably benign Het
Ank3 C T 10: 70,002,109 (GRCm38) P240L probably damaging Het
Ankrd35 C A 3: 96,684,824 (GRCm38) L809M possibly damaging Het
Birc6 T A 17: 74,650,099 (GRCm38) L3690Q probably damaging Het
Bmp3 C A 5: 98,872,061 (GRCm38) F114L probably damaging Het
Cage1 G A 13: 38,019,208 (GRCm38) H627Y probably benign Het
Cars1 T C 7: 143,569,475 (GRCm38) D468G probably damaging Het
Ccdc148 T C 2: 58,829,802 (GRCm38) E487G probably damaging Het
Ccdc80 A T 16: 45,118,167 (GRCm38) I746F probably damaging Het
Ccl25 A G 8: 4,353,913 (GRCm38) Q119R possibly damaging Het
Cdh24 C T 14: 54,633,215 (GRCm38) D178N probably damaging Het
Cdk12 A T 11: 98,222,687 (GRCm38) T766S unknown Het
Chst15 T A 7: 132,247,884 (GRCm38) T443S probably benign Het
Cnbp T C 6: 87,845,146 (GRCm38) D125G possibly damaging Het
Cntn2 A T 1: 132,516,032 (GRCm38) V1003E possibly damaging Het
Crct1 A G 3: 93,014,825 (GRCm38) probably benign Het
Dand5 C T 8: 84,816,484 (GRCm38) C121Y probably damaging Het
Dmkn A T 7: 30,771,233 (GRCm38) D382V probably damaging Het
Dnase2b T A 3: 146,593,441 (GRCm38) T86S probably damaging Het
Dusp8 GCCACCACCACCACCACCACCACC GCCACCACCACCACCACCACC 7: 142,082,154 (GRCm38) probably benign Het
Eef1akmt1 C T 14: 57,550,632 (GRCm38) V90M probably damaging Het
Egfl7 G T 2: 26,590,980 (GRCm38) W168L probably benign Het
Ep400 A G 5: 110,665,810 (GRCm38) C2908R probably damaging Het
Espl1 A G 15: 102,315,241 (GRCm38) K1076E probably damaging Het
Exoc4 A G 6: 33,910,517 (GRCm38) N747D probably benign Het
Fancm T C 12: 65,077,141 (GRCm38) V191A probably benign Het
Fbxo17 A G 7: 28,732,789 (GRCm38) D97G probably benign Het
Fer1l6 G T 15: 58,600,311 (GRCm38) probably null Het
Flt4 T C 11: 49,627,143 (GRCm38) W337R probably damaging Het
Fpr-rs7 T C 17: 20,113,820 (GRCm38) H136R possibly damaging Het
Frem3 T A 8: 80,613,136 (GRCm38) I686N possibly damaging Het
Galnt9 A G 5: 110,577,449 (GRCm38) K84R probably damaging Het
Gfm2 T A 13: 97,175,676 (GRCm38) M760K probably damaging Het
Glis3 T C 19: 28,666,104 (GRCm38) T13A probably damaging Het
H2-K1 A G 17: 33,997,076 (GRCm38) V323A possibly damaging Het
Hbb-bs G A 7: 103,826,720 (GRCm38) A130V probably damaging Het
Herc2 T A 7: 56,229,690 (GRCm38) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,736,294 (GRCm38) R56H possibly damaging Het
Itgb4 A G 11: 116,006,605 (GRCm38) N1548S probably benign Het
Itpr3 T C 17: 27,098,005 (GRCm38) Y745H probably damaging Het
Kank3 G T 17: 33,817,200 (GRCm38) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm38) S982Y probably damaging Het
Kifc5b C T 17: 26,921,023 (GRCm38) R53W probably damaging Het
Krt39 A G 11: 99,514,749 (GRCm38) S442P possibly damaging Het
Lcat G A 8: 105,942,442 (GRCm38) P67L possibly damaging Het
Maml2 T C 9: 13,621,175 (GRCm38) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm38) R65W possibly damaging Het
Mbd3 G T 10: 80,395,576 (GRCm38) R12S probably damaging Het
Msr1 T C 8: 39,624,251 (GRCm38) E106G possibly damaging Het
Myh4 T A 11: 67,254,028 (GRCm38) L1256Q probably damaging Het
Mypn G A 10: 63,147,936 (GRCm38) T511M possibly damaging Het
Nub1 A T 5: 24,701,469 (GRCm38) N331I probably benign Het
Nup107 A G 10: 117,770,511 (GRCm38) V440A possibly damaging Het
Ofcc1 A G 13: 40,214,517 (GRCm38) F174L probably benign Het
Or10d5 A C 9: 39,950,225 (GRCm38) V182G probably damaging Het
Or52ab2 A T 7: 103,320,543 (GRCm38) N44I probably damaging Het
Or9q2 T C 19: 13,795,465 (GRCm38) I49V probably benign Het
Parp2 C A 14: 50,819,268 (GRCm38) L310I probably damaging Het
Pcdh20 A G 14: 88,469,726 (GRCm38) V46A probably benign Het
Pkd1l2 A T 8: 117,072,549 (GRCm38) N267K probably damaging Het
Pkd1l2 T C 8: 117,054,885 (GRCm38) E807G probably benign Het
Pramel24 A T 4: 143,728,326 (GRCm38) K398M possibly damaging Het
Rell1 C A 5: 63,936,033 (GRCm38) M126I probably damaging Het
Robo4 G A 9: 37,402,560 (GRCm38) E36K probably benign Het
Rpgrip1l T C 8: 91,261,009 (GRCm38) S807G probably benign Het
Rpl10a T C 17: 28,330,852 (GRCm38) V169A probably benign Het
Rubcn C T 16: 32,847,294 (GRCm38) V166I probably damaging Het
Sall2 T C 14: 52,315,393 (GRCm38) E113G possibly damaging Het
Sars2 T C 7: 28,752,438 (GRCm38) S423P possibly damaging Het
Scaper A G 9: 55,892,235 (GRCm38) I182T probably benign Het
Selp A G 1: 164,141,397 (GRCm38) D522G possibly damaging Het
Sema4b T A 7: 80,198,756 (GRCm38) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm38) F268I probably damaging Het
Slc14a2 G T 18: 78,192,188 (GRCm38) A258E probably damaging Het
Slc17a9 T C 2: 180,735,949 (GRCm38) Y213H probably benign Het
Slc22a7 T G 17: 46,436,933 (GRCm38) I233L probably benign Het
Slc35f1 A G 10: 53,062,602 (GRCm38) Q210R probably damaging Het
Slc6a21 A G 7: 45,288,310 (GRCm38) E350G possibly damaging Het
Spata21 A T 4: 141,112,091 (GRCm38) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm38) D1519G probably damaging Het
Tbccd1 T C 16: 22,841,899 (GRCm38) T56A probably benign Het
Tigit A T 16: 43,662,017 (GRCm38) I118N probably damaging Het
Tlr11 A T 14: 50,362,885 (GRCm38) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,449 (GRCm38) I9S possibly damaging Het
Unc5c T A 3: 141,788,966 (GRCm38) Y347N probably damaging Het
Unk A G 11: 116,054,945 (GRCm38) T481A probably benign Het
Vmn1r192 A C 13: 22,187,480 (GRCm38) V190G probably damaging Het
Vnn3 A T 10: 23,864,575 (GRCm38) M259L probably benign Het
Zan T C 5: 137,408,370 (GRCm38) probably benign Het
Zdhhc6 T C 19: 55,313,210 (GRCm38) H113R probably damaging Het
Other mutations in Pcdhgb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Pcdhgb6 APN 18 37,743,705 (GRCm38) missense probably damaging 1.00
R4459:Pcdhgb6 UTSW 18 37,742,706 (GRCm38) missense probably benign 0.00
R5019:Pcdhgb6 UTSW 18 37,742,941 (GRCm38) missense probably damaging 1.00
R5391:Pcdhgb6 UTSW 18 37,742,587 (GRCm38) missense probably damaging 0.97
R5828:Pcdhgb6 UTSW 18 37,744,404 (GRCm38) missense probably benign 0.00
R6056:Pcdhgb6 UTSW 18 37,743,112 (GRCm38) missense probably benign 0.01
R6242:Pcdhgb6 UTSW 18 37,743,555 (GRCm38) missense probably benign 0.00
R6375:Pcdhgb6 UTSW 18 37,742,625 (GRCm38) missense probably damaging 0.97
R6836:Pcdhgb6 UTSW 18 37,742,962 (GRCm38) missense probably benign 0.11
R6973:Pcdhgb6 UTSW 18 37,742,473 (GRCm38) missense possibly damaging 0.64
R7185:Pcdhgb6 UTSW 18 37,743,648 (GRCm38) missense probably benign 0.42
R7994:Pcdhgb6 UTSW 18 37,742,671 (GRCm38) missense probably damaging 1.00
R8095:Pcdhgb6 UTSW 18 37,742,871 (GRCm38) missense probably benign 0.00
R8460:Pcdhgb6 UTSW 18 37,744,225 (GRCm38) missense possibly damaging 0.88
R8558:Pcdhgb6 UTSW 18 37,744,184 (GRCm38) missense probably damaging 1.00
R8699:Pcdhgb6 UTSW 18 37,742,922 (GRCm38) missense probably benign 0.12
R8808:Pcdhgb6 UTSW 18 37,743,398 (GRCm38) missense possibly damaging 0.88
R9350:Pcdhgb6 UTSW 18 37,743,819 (GRCm38) missense probably benign 0.00
R9668:Pcdhgb6 UTSW 18 37,742,508 (GRCm38) missense probably benign 0.02
R9707:Pcdhgb6 UTSW 18 37,743,715 (GRCm38) missense possibly damaging 0.49
R9765:Pcdhgb6 UTSW 18 37,743,001 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCTCTCTACACGGTGTAAAATCATC -3'
(R):5'- TCCAGGCGGATTGTTCTCTG -3'

Sequencing Primer
(F):5'- CGGTGTAAAATCATCATAGAAGTCC -3'
(R):5'- GGATTGTTCTCTGCCACATGGAC -3'
Posted On 2016-04-15