Incidental Mutation 'R7994:Pcdhgb6'
ID 651960
Institutional Source Beutler Lab
Gene Symbol Pcdhgb6
Ensembl Gene ENSMUSG00000103088
Gene Name protocadherin gamma subfamily B, 6
Synonyms
MMRRC Submission 046035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R7994 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37875147-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37875724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 144 (E144G)
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 damaging
Transcript: ENSMUST00000003599
AA Change: E144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
AA Change: E144G

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
Meta Mutation Damage Score 0.9418 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G C 5: 124,220,090 (GRCm39) F318L probably benign Het
Adad1 T C 3: 37,146,120 (GRCm39) I496T possibly damaging Het
Amotl1 T A 9: 14,504,657 (GRCm39) N184Y probably damaging Het
Asz1 T C 6: 18,054,640 (GRCm39) I388V probably benign Het
Brpf1 C G 6: 113,292,002 (GRCm39) H349Q probably damaging Het
Cebpz T C 17: 79,242,028 (GRCm39) D542G probably damaging Het
Cfap44 T C 16: 44,252,501 (GRCm39) V870A probably damaging Het
Cnga1 T A 5: 72,762,003 (GRCm39) I504F probably damaging Het
Col4a3 G A 1: 82,640,627 (GRCm39) G315D unknown Het
Commd10 A G 18: 47,091,986 (GRCm39) E11G possibly damaging Het
Coq9 A C 8: 95,579,785 (GRCm39) N247H probably benign Het
Cort A T 4: 149,209,762 (GRCm39) C97S probably damaging Het
Dclre1b T C 3: 103,710,702 (GRCm39) D403G probably damaging Het
Efcab8 G A 2: 153,625,724 (GRCm39) G128E Het
Ercc5 T C 1: 44,217,494 (GRCm39) S946P possibly damaging Het
Fam221b C T 4: 43,665,514 (GRCm39) V315M probably damaging Het
Fam3c T C 6: 22,308,459 (GRCm39) K245E probably damaging Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gadd45g T C 13: 52,001,803 (GRCm39) S123P possibly damaging Het
Gm49368 A G 7: 127,684,818 (GRCm39) D396G possibly damaging Het
Gsto1 G A 19: 47,847,899 (GRCm39) R132K probably benign Het
Gtf3c2 T C 5: 31,327,217 (GRCm39) I327V possibly damaging Het
Hipk2 T C 6: 38,795,403 (GRCm39) K289E possibly damaging Het
Igkv4-80 G T 6: 68,993,621 (GRCm39) T90N probably benign Het
Ilrun C A 17: 27,986,917 (GRCm39) A270S probably benign Het
Madcam1 A T 10: 79,504,069 (GRCm39) probably null Het
Mgat1 T C 11: 49,152,770 (GRCm39) Y418H probably damaging Het
Myh10 T C 11: 68,681,070 (GRCm39) probably null Het
Notch4 C A 17: 34,797,064 (GRCm39) H937Q possibly damaging Het
Npas2 G T 1: 39,367,418 (GRCm39) C313F possibly damaging Het
Nup93 A G 8: 95,032,930 (GRCm39) M565V probably benign Het
Or10al3 C T 17: 38,012,326 (GRCm39) T255I probably damaging Het
Or1x6 T G 11: 50,938,967 (GRCm39) V11G probably benign Het
Or52a5 T A 7: 103,426,607 (GRCm39) H315L probably benign Het
Or56b2j T A 7: 104,353,635 (GRCm39) V287D probably damaging Het
Or6k4 G T 1: 173,964,273 (GRCm39) probably benign Het
Otop1 C T 5: 38,457,195 (GRCm39) T318I probably benign Het
Plekha8 T C 6: 54,592,230 (GRCm39) L18P probably damaging Het
Ppp1r13b T C 12: 111,798,776 (GRCm39) D939G probably damaging Het
Prkag3 T A 1: 74,786,414 (GRCm39) Q177L probably benign Het
Rcor3 C A 1: 191,785,945 (GRCm39) S431I probably damaging Het
Scrib G A 15: 75,936,431 (GRCm39) T475I probably damaging Het
Serpinb1a T A 13: 33,027,033 (GRCm39) D303V probably damaging Het
Snrnp25 T A 11: 32,157,569 (GRCm39) V49E probably benign Het
Sobp A T 10: 42,897,163 (GRCm39) Y807* probably null Het
Spata31e4 T A 13: 50,856,900 (GRCm39) V846D probably benign Het
Srcap T C 7: 127,140,930 (GRCm39) V1570A probably benign Het
Srcin1 C T 11: 97,422,742 (GRCm39) V731M probably damaging Het
Syt2 A T 1: 134,675,330 (GRCm39) M394L possibly damaging Het
Tafa4 C T 6: 96,840,847 (GRCm39) E49K probably damaging Het
Tert T A 13: 73,797,074 (GRCm39) I1104N probably benign Het
Ttn T C 2: 76,621,439 (GRCm39) Y15667C probably damaging Het
Twnk A G 19: 44,996,277 (GRCm39) T237A probably benign Het
Zfp157 T A 5: 138,453,450 (GRCm39) probably null Het
Zfp503 C A 14: 22,035,074 (GRCm39) S614I probably damaging Het
Zswim8 T A 14: 20,758,072 (GRCm39) N52K 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
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
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'- GGACTTACTGGTGAAGGACC -3'
(R):5'- CCAAGGCAGTCAGTATCAAGCG -3'

Sequencing Primer
(F):5'- TGAAGGACCGCATAGATCGC -3'
(R):5'- AAGCGATGAGACCTCTGTTC -3'
Posted On 2020-09-15