Incidental Mutation 'R7027:Pcdhgb4'
ID 546088
Institutional Source Beutler Lab
Gene Symbol Pcdhgb4
Ensembl Gene ENSMUSG00000103585
Gene Name protocadherin gamma subfamily B, 4
Synonyms
MMRRC Submission 045128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7027 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37853429-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37854415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 270 (D270G)
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: D270G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: D270G

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 98% (85/87)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,852,003 (GRCm39) M102L probably benign Het
Adcy10 A G 1: 165,345,815 (GRCm39) E288G probably damaging Het
Agap1 A G 1: 89,816,444 (GRCm39) H748R probably benign Het
Ahsg T C 16: 22,711,007 (GRCm39) L48P probably damaging Het
Ankrd27 A G 7: 35,311,951 (GRCm39) T394A probably benign Het
Apc T G 18: 34,445,129 (GRCm39) V657G probably damaging Het
Arl2 T C 19: 6,191,119 (GRCm39) T5A probably benign Het
B020011L13Rik A G 1: 117,729,180 (GRCm39) Y229C probably benign Het
B3gnt5 T A 16: 19,588,740 (GRCm39) S320T probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
BC107364 T G 3: 96,348,057 (GRCm39) R77S unknown Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccrl2 T C 9: 110,884,953 (GRCm39) K182E probably benign Het
Cd19 A G 7: 126,009,671 (GRCm39) V465A possibly damaging Het
Chrdl2 A T 7: 99,671,240 (GRCm39) Q126H probably damaging Het
Cnbd1 G A 4: 18,862,063 (GRCm39) P376S probably benign Het
Cobll1 A G 2: 64,919,847 (GRCm39) S1194P probably benign Het
Col6a4 T C 9: 105,944,213 (GRCm39) Y1087C probably damaging Het
Col9a2 G A 4: 120,901,216 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,763,289 (GRCm39) S341P possibly damaging Het
Dnah7a T A 1: 53,670,665 (GRCm39) Y529F probably benign Het
Eif3b C T 5: 140,411,043 (GRCm39) R165W probably damaging Het
Erlec1 C A 11: 30,900,790 (GRCm39) C126F probably damaging Het
Fads2b A G 2: 85,315,871 (GRCm39) Y440H probably damaging Het
Fat2 T C 11: 55,160,259 (GRCm39) T3285A probably benign Het
Fat2 G A 11: 55,172,677 (GRCm39) R2679* probably null Het
Fbxo31 T C 8: 122,305,224 (GRCm39) T91A probably damaging Het
Fkbp5 A G 17: 28,631,037 (GRCm39) Y243H probably damaging Het
Flcn C T 11: 59,686,632 (GRCm39) V374M probably damaging Het
Fndc5 A G 4: 129,033,316 (GRCm39) M128V probably benign Het
Gal3st1 A G 11: 3,949,002 (GRCm39) D403G probably damaging Het
Garem1 T C 18: 21,263,051 (GRCm39) N588D probably benign Het
Gas1 T C 13: 60,324,047 (GRCm39) T196A probably damaging Het
Gcn1 T C 5: 115,754,605 (GRCm39) probably null Het
Gprc5d T G 6: 135,093,646 (GRCm39) Q87P probably damaging Het
Grm1 A G 10: 10,595,339 (GRCm39) L763P probably damaging Het
Hivep2 G T 10: 14,025,321 (GRCm39) K2378N probably damaging Het
Hivep2 G T 10: 14,025,322 (GRCm39) D2379Y probably damaging Het
Itgad A G 7: 127,782,161 (GRCm39) Y199C probably damaging Het
Itm2c A G 1: 85,834,206 (GRCm39) I174V probably benign Het
Khdrbs2 A G 1: 32,453,997 (GRCm39) S128G probably benign Het
Map3k9 T C 12: 81,777,398 (GRCm39) T528A probably benign Het
Mmp11 G A 10: 75,768,230 (GRCm39) probably benign Het
Mycbpap T A 11: 94,405,440 (GRCm39) I30F probably damaging Het
Nfya T C 17: 48,696,340 (GRCm39) T335A probably benign Het
Npat T A 9: 53,481,216 (GRCm39) S1008T possibly damaging Het
Or10al5 G A 17: 38,063,300 (GRCm39) C185Y probably damaging Het
Or12e10 A G 2: 87,641,060 (GRCm39) T299A possibly damaging Het
Or5p69 A T 7: 107,967,557 (GRCm39) M287L probably damaging Het
Or6c219 C T 10: 129,781,041 (GRCm39) A297T possibly damaging Het
Osbpl10 T C 9: 115,052,766 (GRCm39) V613A probably damaging Het
Pcdhga8 T C 18: 37,860,164 (GRCm39) W407R probably benign Het
Pde2a A C 7: 101,160,804 (GRCm39) E918D probably damaging Het
Plekhg5 A G 4: 152,198,431 (GRCm39) D873G probably benign Het
Pno1 A T 11: 17,158,880 (GRCm39) S173T possibly damaging Het
Ppfia3 A G 7: 45,004,160 (GRCm39) I494T possibly damaging Het
Prkrip1 C A 5: 136,210,267 (GRCm39) probably benign Het
Psma5 A G 3: 108,172,484 (GRCm39) I67V probably benign Het
Reep6 G A 10: 80,169,799 (GRCm39) probably null Het
Rtl1 CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC 12: 109,557,848 (GRCm39) probably benign Het
Scyl2 C G 10: 89,481,323 (GRCm39) probably null Het
Sdk1 T A 5: 142,082,481 (GRCm39) probably null Het
Senp5 C A 16: 31,808,113 (GRCm39) K380N probably benign Het
Slc22a14 A T 9: 119,060,281 (GRCm39) probably null Het
Slc26a5 T A 5: 22,021,972 (GRCm39) T485S possibly damaging Het
Slc44a5 T C 3: 153,959,356 (GRCm39) I349T probably benign Het
Smarca5 T C 8: 81,463,355 (GRCm39) E71G probably benign Het
Smok2a A T 17: 13,444,666 (GRCm39) H81L probably damaging Het
Snrnp200 A G 2: 127,059,192 (GRCm39) D388G probably benign Het
Tank T C 2: 61,483,766 (GRCm39) V404A probably benign Het
Tek A G 4: 94,753,747 (GRCm39) D1063G probably damaging Het
Tfap2a C T 13: 40,887,150 (GRCm39) C16Y probably benign Het
Tmc1 A G 19: 20,918,267 (GRCm39) probably null Het
Tnc A G 4: 63,902,826 (GRCm39) F1484L probably benign Het
Tnfsf13 T A 11: 69,575,958 (GRCm39) probably null Het
Tnrc6c T A 11: 117,624,444 (GRCm39) S919T probably damaging Het
Trim17 C A 11: 58,859,442 (GRCm39) Q219K probably benign Het
Trim5 T A 7: 103,914,875 (GRCm39) H389L probably benign Het
Trio T A 15: 27,805,740 (GRCm39) M583L possibly damaging Het
Ttll10 A T 4: 156,120,258 (GRCm39) H389Q possibly damaging Het
Usp24 T C 4: 106,219,441 (GRCm39) S546P probably benign Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Vmn2r50 T A 7: 9,781,539 (GRCm39) D402V probably damaging Het
Vmn2r93 C A 17: 18,533,548 (GRCm39) A484E probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wdr36 T A 18: 32,974,958 (GRCm39) H103Q probably benign Het
Zfp534 G A 4: 147,759,667 (GRCm39) T334I possibly damaging Het
Zfp804b C T 5: 6,820,372 (GRCm39) S897N 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
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
R8918:Pcdhgb4 UTSW 18 37,855,648 (GRCm39) missense probably damaging 0.99
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'- AGCTCTAGACCGGGAAAAGC -3'
(R):5'- CACCGTACATTGCGCAATCATC -3'

Sequencing Primer
(F):5'- ACTTGACCCTGACTGCTTTGGAC -3'
(R):5'- CTCCGGTATTAGAATCCAGG -3'
Posted On 2019-05-13