Incidental Mutation 'R7145:Pcdhgb4'
ID 553749
Institutional Source Beutler Lab
Gene Symbol Pcdhgb4
Ensembl Gene ENSMUSG00000103585
Gene Name protocadherin gamma subfamily B, 4
Synonyms
MMRRC Submission 045223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7145 (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 37854843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 413 (N413D)
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 benign
Transcript: ENSMUST00000195363
AA Change: N413D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
AA Change: N413D

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: 99.9%
  • 10x: 99.7%
  • 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,820 (GRCm39) Y1670H probably damaging Het
Abca12 T C 1: 71,346,212 (GRCm39) K886R possibly damaging Het
Adcy3 G A 12: 4,250,992 (GRCm39) E584K probably benign Het
Ano3 A T 2: 110,693,205 (GRCm39) V131D probably benign Het
Arhgdig C T 17: 26,418,337 (GRCm39) W215* probably null Het
Cad G T 5: 31,224,956 (GRCm39) W953L possibly damaging Het
Calhm2 T C 19: 47,124,080 (GRCm39) Y88C probably benign Het
Cdk5rap2 A T 4: 70,156,468 (GRCm39) D1681E probably benign Het
Cenpl T A 1: 160,910,482 (GRCm39) L143H possibly damaging Het
Cherp T C 8: 73,222,230 (GRCm39) K270E Het
Cmss1 A G 16: 57,131,718 (GRCm39) I136T probably benign Het
Col23a1 T C 11: 51,456,050 (GRCm39) probably null Het
Crnn C A 3: 93,055,689 (GRCm39) D158E probably damaging Het
Dnmt3a A T 12: 3,922,844 (GRCm39) Q149L probably benign Het
Dst T A 1: 34,228,963 (GRCm39) N2185K probably benign Het
Eif1ad18 G T 12: 88,050,597 (GRCm39) C44F probably benign Het
Elp2 T A 18: 24,737,126 (GRCm39) N25K probably benign Het
Ephb4 A T 5: 137,370,308 (GRCm39) D845V probably damaging Het
Esyt3 T C 9: 99,201,627 (GRCm39) T561A probably damaging Het
F3 G T 3: 121,525,235 (GRCm39) V159L probably damaging Het
Fam81a A T 9: 70,017,560 (GRCm39) D128E probably damaging Het
Flot1 T G 17: 36,135,835 (GRCm39) H155Q probably benign Het
Fut9 T A 4: 25,620,507 (GRCm39) K102N probably damaging Het
Gm6309 T C 5: 146,107,100 (GRCm39) Q82R possibly damaging Het
H13 A G 2: 152,522,992 (GRCm39) N102D probably damaging Het
Lamc2 C G 1: 153,006,518 (GRCm39) A878P possibly damaging Het
Lepr C T 4: 101,609,394 (GRCm39) T327I probably benign Het
Lrp2 A G 2: 69,285,152 (GRCm39) probably null Het
Ly86 A G 13: 37,560,986 (GRCm39) K116E probably damaging Het
Mapk8ip2 T A 15: 89,343,201 (GRCm39) F648I possibly damaging Het
Muc16 G A 9: 18,566,876 (GRCm39) T1881I unknown Het
Myh13 T G 11: 67,245,566 (GRCm39) S1069A probably benign Het
Myh4 T A 11: 67,151,054 (GRCm39) I1903N possibly damaging Het
Myo18b A T 5: 112,965,545 (GRCm39) L1341* probably null Het
Naa25 G T 5: 121,555,552 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapg C T 5: 45,827,372 (GRCm39) A3V possibly damaging Het
Ncln T C 10: 81,324,086 (GRCm39) H481R probably benign Het
Nek4 C A 14: 30,704,305 (GRCm39) Q607K probably damaging Het
Neo1 T C 9: 58,796,462 (GRCm39) Y1182C probably damaging Het
Npnt T C 3: 132,615,692 (GRCm39) N165S probably benign Het
Or2l5 C G 16: 19,333,649 (GRCm39) V246L probably damaging Het
Or4p22 C T 2: 88,317,721 (GRCm39) S215L probably damaging Het
Or8b8 A G 9: 37,808,859 (GRCm39) H53R probably benign Het
Or8k30 T C 2: 86,338,872 (GRCm39) L23P probably damaging Het
Otulin T C 15: 27,608,856 (GRCm39) Y229C probably damaging Het
Palld A T 8: 61,985,051 (GRCm39) D1071E unknown Het
Pcdhb20 T C 18: 37,638,142 (GRCm39) S223P probably damaging Het
Pcdhga6 T A 18: 37,840,781 (GRCm39) I167N probably damaging Het
Pcdhgb8 T A 18: 37,896,050 (GRCm39) Y373* probably null Het
Plxna2 G T 1: 194,331,830 (GRCm39) V419L probably benign Het
Rpgrip1l A T 8: 91,959,434 (GRCm39) probably null Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Scaper C T 9: 55,819,395 (GRCm39) D107N unknown Het
Scgb2b3 T A 7: 31,059,573 (GRCm39) Y67F probably benign Het
Scn5a G A 9: 119,315,437 (GRCm39) T1757I probably damaging Het
Sgo2b G A 8: 64,381,218 (GRCm39) P538L probably damaging Het
Slc9a3 A G 13: 74,298,797 (GRCm39) K72R probably damaging Het
Smchd1 T A 17: 71,685,202 (GRCm39) T1409S probably benign Het
Stab1 A T 14: 30,867,030 (GRCm39) probably null Het
Sult2b1 T C 7: 45,383,056 (GRCm39) E242G probably damaging Het
Tcaf1 A T 6: 42,663,687 (GRCm39) H64Q probably damaging Het
Tle6 T C 10: 81,435,910 (GRCm39) T2A possibly damaging Het
Tmem115 T C 9: 107,412,285 (GRCm39) V203A probably benign Het
Tmem45b G A 9: 31,340,337 (GRCm39) T108I probably damaging Het
Tmf1 A T 6: 97,153,079 (GRCm39) D331E probably damaging Het
Txndc9 T C 1: 38,029,377 (GRCm39) Y157C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 C A 6: 124,168,711 (GRCm39) R806S probably benign Het
Vmn2r59 G A 7: 41,695,188 (GRCm39) A408V probably damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A 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
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'- TCTCATAATGGAGGATGCTGAGC -3'
(R):5'- ATAGGTAACCTGGCCATTGGC -3'

Sequencing Primer
(F):5'- TGAGCCAGGGACATATATCGCTC -3'
(R):5'- TCTGAGGCGCTGACTTGAGC -3'
Posted On 2019-05-15