Incidental Mutation 'R8918:Pcdhgb4'
ID 679081
Institutional Source Beutler Lab
Gene Symbol Pcdhgb4
Ensembl Gene ENSMUSG00000103585
Gene Name protocadherin gamma subfamily B, 4
Synonyms
MMRRC Submission 068705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37853429-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37855648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 681 (D681G)
Ref Sequence ENSEMBL: ENSMUSP00000142227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193476] [ENSMUST00000195363] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195823]
AlphaFold Q91XX6
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: 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: 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: ENSMUST00000193476
SMART Domains Protein: ENSMUSP00000142126
Gene: ENSMUSG00000103472

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CA 47 133 7.6e-5 SMART
CA 157 242 1.6e-21 SMART
CA 266 347 1.6e-25 SMART
CA 371 452 4.5e-25 SMART
CA 476 562 6.6e-27 SMART
CA 593 671 1.7e-17 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195363
AA Change: D681G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: D681G

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: 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: 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: 99.2%
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. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,333,315 (GRCm39) F480L probably damaging Het
Actr6 A T 10: 89,553,057 (GRCm39) I267N probably damaging Het
Ank2 A G 3: 126,737,380 (GRCm39) S2835P unknown Het
Arfgef3 C T 10: 18,511,453 (GRCm39) R753Q probably benign Het
Arid3a A G 10: 79,784,765 (GRCm39) T285A probably benign Het
Atad5 T C 11: 79,986,473 (GRCm39) V520A probably benign Het
Atoh1 T G 6: 64,707,241 (GRCm39) L312R probably damaging Het
Brd10 T C 19: 29,696,841 (GRCm39) K884R possibly damaging Het
Cpt1a T C 19: 3,408,258 (GRCm39) V179A Het
Crocc2 C A 1: 93,129,144 (GRCm39) N816K possibly damaging Het
Csf2ra A T 19: 61,214,721 (GRCm39) V201D probably damaging Het
Dok1 C T 6: 83,008,324 (GRCm39) V453I probably benign Het
Elp4 A G 2: 105,662,600 (GRCm39) S175P probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Etl4 G A 2: 20,748,733 (GRCm39) S357N probably benign Het
Etl4 A G 2: 20,811,246 (GRCm39) T1478A probably benign Het
Gabra1 A G 11: 42,026,320 (GRCm39) F324S probably damaging Het
Gm11437 T C 11: 84,043,530 (GRCm39) T254A probably benign Het
Gria2 T C 3: 80,599,706 (GRCm39) E726G probably damaging Het
Gstm2 A T 3: 107,892,382 (GRCm39) C115S possibly damaging Het
Ighv1-12 T C 12: 114,579,553 (GRCm39) T90A probably damaging Het
Inf2 A G 12: 112,572,703 (GRCm39) I690V unknown Het
Kdm3b A G 18: 34,970,650 (GRCm39) N1739S probably damaging Het
Lrp1b A T 2: 40,615,893 (GRCm39) N3614K Het
Mapk8ip3 A G 17: 25,131,727 (GRCm39) L404P probably damaging Het
Mcl1 T C 3: 95,567,192 (GRCm39) F251S probably damaging Het
Mdn1 T A 4: 32,744,579 (GRCm39) L4038* probably null Het
Mmp8 T C 9: 7,561,485 (GRCm39) V163A probably benign Het
Myo18b C T 5: 113,022,873 (GRCm39) probably benign Het
Ndst1 C T 18: 60,825,083 (GRCm39) R745H probably benign Het
Or4d2b A G 11: 87,780,284 (GRCm39) V146A probably benign Het
Or8c18 T C 9: 38,203,385 (GRCm39) F48S probably benign Het
Pard3 C T 8: 128,098,011 (GRCm39) R351C probably benign Het
Pde10a G A 17: 9,160,063 (GRCm39) A163T possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pelp1 A G 11: 70,296,505 (GRCm39) L123S probably damaging Het
Plekhh2 A G 17: 84,906,621 (GRCm39) D1152G possibly damaging Het
Rag1 T C 2: 101,472,098 (GRCm39) T1015A probably benign Het
Rock2 C T 12: 16,990,422 (GRCm39) Q115* probably null Het
Rorb T A 19: 18,915,356 (GRCm39) H434L probably damaging Het
Safb2 A T 17: 56,882,975 (GRCm39) C219* probably null Het
Sema3a A G 5: 13,573,099 (GRCm39) H209R probably damaging Het
Serpinb9g T G 13: 33,679,131 (GRCm39) S334A probably benign Het
Slc5a9 T A 4: 111,741,147 (GRCm39) M500L probably benign Het
Snap91 A G 9: 86,651,611 (GRCm39) S810P unknown Het
Spink5 G T 18: 44,100,087 (GRCm39) A35S probably damaging Het
Stxbp5l G A 16: 36,954,892 (GRCm39) T887I Het
Tacc2 T C 7: 130,227,823 (GRCm39) F1503L probably benign Het
Tectb A G 19: 55,180,000 (GRCm39) E272G probably damaging Het
Trdn A T 10: 33,015,117 (GRCm39) I24F probably benign Het
Tshr G A 12: 91,504,211 (GRCm39) S383N probably benign Het
Tspan1 C A 4: 116,020,970 (GRCm39) C149F probably damaging Het
Ttn A T 2: 76,570,862 (GRCm39) L26677Q probably damaging Het
Ush2a T A 1: 188,270,017 (GRCm39) F1755I possibly damaging Het
Vps13d T A 4: 144,772,873 (GRCm39) I4047F Het
Zfp1010 A C 2: 176,958,551 (GRCm39) S29R probably benign Het
Zfp369 T A 13: 65,443,529 (GRCm39) L336* probably null Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp984 T C 4: 147,840,623 (GRCm39) H76R possibly damaging Het
Zscan10 G A 17: 23,826,116 (GRCm39) G138S probably benign Het
Other mutations in Pcdhgb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5602:Pcdhgb4 UTSW 18 37,854,697 (GRCm39) missense probably damaging 0.97
R6236:Pcdhgb4 UTSW 18 37,854,345 (GRCm39) missense probably damaging 1.00
R6326:Pcdhgb4 UTSW 18 37,855,509 (GRCm39) missense probably benign 0.40
R6425:Pcdhgb4 UTSW 18 37,854,640 (GRCm39) missense possibly damaging 0.69
R6619:Pcdhgb4 UTSW 18 37,854,737 (GRCm39) missense probably damaging 1.00
R6749:Pcdhgb4 UTSW 18 37,854,282 (GRCm39) missense possibly damaging 0.52
R6752:Pcdhgb4 UTSW 18 37,853,704 (GRCm39) missense probably damaging 0.99
R7027:Pcdhgb4 UTSW 18 37,854,415 (GRCm39) missense probably damaging 1.00
R7145:Pcdhgb4 UTSW 18 37,854,843 (GRCm39) missense probably benign 0.00
R7158:Pcdhgb4 UTSW 18 37,853,938 (GRCm39) missense probably damaging 1.00
R7389:Pcdhgb4 UTSW 18 37,855,416 (GRCm39) missense probably damaging 1.00
R7524:Pcdhgb4 UTSW 18 37,854,661 (GRCm39) missense probably benign 0.02
R7557:Pcdhgb4 UTSW 18 37,855,847 (GRCm39) nonsense probably null
R7943:Pcdhgb4 UTSW 18 37,855,063 (GRCm39) missense probably benign 0.01
R8142:Pcdhgb4 UTSW 18 37,854,166 (GRCm39) missense probably damaging 0.98
R8717:Pcdhgb4 UTSW 18 37,853,847 (GRCm39) missense probably benign 0.06
R8779:Pcdhgb4 UTSW 18 37,854,835 (GRCm39) missense probably damaging 1.00
R9153:Pcdhgb4 UTSW 18 37,854,131 (GRCm39) missense possibly damaging 0.94
R9296:Pcdhgb4 UTSW 18 37,853,777 (GRCm39) missense probably benign 0.03
R9491:Pcdhgb4 UTSW 18 37,854,895 (GRCm39) missense probably damaging 1.00
R9526:Pcdhgb4 UTSW 18 37,855,882 (GRCm39) missense probably benign 0.19
RF015:Pcdhgb4 UTSW 18 37,854,855 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhgb4 UTSW 18 37,854,394 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTTACCATGTGCTGCAGG -3'
(R):5'- AGTCCCCTCACTGTAGTTGG -3'

Sequencing Primer
(F):5'- AGTGACCCTGGGCTCTTCAG -3'
(R):5'- TAGAATCACAGCCAGGAG -3'
Posted On 2021-08-02