Incidental Mutation 'R8273:Pcdhgb5'
ID 637879
Institutional Source Beutler Lab
Gene Symbol Pcdhgb5
Ensembl Gene ENSMUSG00000103749
Gene Name protocadherin gamma subfamily B, 5
Synonyms
MMRRC Submission 067696-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R8273 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37864062-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37865240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 345 (V345A)
Ref Sequence ENSEMBL: ENSMUSP00000142010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112] [ENSMUST00000195363] [ENSMUST00000195823]
AlphaFold Q91XX5
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
AA Change: V345A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: V345A

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,211 (GRCm39) V467I probably benign Het
Ank1 G A 8: 23,575,668 (GRCm39) G167E probably damaging Het
Ano2 G A 6: 125,959,683 (GRCm39) V648M probably damaging Het
Ap3b2 A G 7: 81,112,990 (GRCm39) C954R unknown Het
Atp13a4 T G 16: 29,290,720 (GRCm39) Y243S Het
Bend3 T G 10: 43,386,899 (GRCm39) C431G probably damaging Het
Ccdc57 G A 11: 120,812,599 (GRCm39) R52C probably damaging Het
Ccl22 T C 8: 95,473,619 (GRCm39) W55R probably damaging Het
Ccnk A G 12: 108,152,758 (GRCm39) Y25C probably damaging Het
Cntnap5a C T 1: 116,499,271 (GRCm39) P1174S probably damaging Het
Copa T C 1: 171,946,546 (GRCm39) probably null Het
Copg2 C T 6: 30,793,061 (GRCm39) V425M probably benign Het
Dnah6 T A 6: 73,172,664 (GRCm39) T265S probably benign Het
Dnah6 T C 6: 73,053,582 (GRCm39) E2936G probably benign Het
Dync2i2 A T 2: 29,921,903 (GRCm39) V486D probably damaging Het
Erc2 A G 14: 27,499,096 (GRCm39) D324G probably benign Het
F11 T A 8: 45,701,644 (GRCm39) H363L possibly damaging Het
F7 T C 8: 13,083,981 (GRCm39) V222A probably benign Het
Fars2 A G 13: 36,594,093 (GRCm39) D366G probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flot2 A G 11: 77,950,021 (GRCm39) I417V probably benign Het
Fmnl1 T C 11: 103,077,525 (GRCm39) F295S probably damaging Het
Gpr89 G A 3: 96,812,505 (GRCm39) T12I probably benign Het
Gprc6a T C 10: 51,507,370 (GRCm39) D53G probably benign Het
Gtf2e1 T A 16: 37,343,213 (GRCm39) I184F probably damaging Het
Gtf2h1 G A 7: 46,454,474 (GRCm39) R152H probably benign Het
Haus3 A G 5: 34,311,435 (GRCm39) F532L probably benign Het
Inpp4a A G 1: 37,407,520 (GRCm39) probably benign Het
Klc4 A T 17: 46,953,080 (GRCm39) L150Q possibly damaging Het
Lzts3 C T 2: 130,476,801 (GRCm39) R549Q possibly damaging Het
Mbd5 T A 2: 49,168,891 (GRCm39) L1354Q probably damaging Het
Mtus2 A G 5: 148,043,815 (GRCm39) D801G probably damaging Het
Muc6 T A 7: 141,226,795 (GRCm39) T1411S unknown Het
Nalcn C A 14: 123,554,436 (GRCm39) G954C probably damaging Het
Nlrp9b G A 7: 19,757,986 (GRCm39) E408K possibly damaging Het
Oaz3 A G 3: 94,342,434 (GRCm39) L119P probably damaging Het
Or2w6 A G 13: 21,843,377 (GRCm39) F39L probably damaging Het
Pdzph1 A T 17: 59,280,009 (GRCm39) Y758N probably benign Het
Pea15a T A 1: 172,026,812 (GRCm39) H65L probably damaging Het
Pigm T A 1: 172,205,524 (GRCm39) I420N probably benign Het
Pign A G 1: 105,516,803 (GRCm39) F580L probably benign Het
Pkhd1 T C 1: 20,607,644 (GRCm39) probably benign Het
Plxnc1 T C 10: 94,649,105 (GRCm39) N1225D probably benign Het
Rbbp6 G A 7: 122,589,547 (GRCm39) D412N probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rtl1 A G 12: 109,559,149 (GRCm39) Y897H possibly damaging Het
Scube2 A T 7: 109,408,383 (GRCm39) F688Y probably benign Het
Sgo2b C A 8: 64,377,735 (GRCm39) R1166L unknown Het
Slc12a2 G T 18: 58,047,338 (GRCm39) probably benign Het
Smpdl3b T A 4: 132,465,712 (GRCm39) H236L probably damaging Het
Spata9 C A 13: 76,125,666 (GRCm39) probably benign Het
St6galnac4 A G 2: 32,477,667 (GRCm39) probably benign Het
Stc2 T A 11: 31,319,777 (GRCm39) N29I possibly damaging Het
Sun5 A T 2: 153,707,243 (GRCm39) M145K possibly damaging Het
Tas2r106 T C 6: 131,655,018 (GRCm39) I278V probably damaging Het
Trrap A G 5: 144,727,975 (GRCm39) I565M probably damaging Het
Ttl A G 2: 128,910,853 (GRCm39) K79R probably benign Het
Ttn A T 2: 76,737,721 (GRCm39) Y4319N unknown Het
Usp28 T C 9: 48,938,182 (GRCm39) L584P probably damaging Het
Wdr27 A G 17: 15,049,838 (GRCm39) S777P probably benign Het
Wee1 A G 7: 109,723,691 (GRCm39) D202G probably benign Het
Wnt5a T C 14: 28,244,562 (GRCm39) Y270H probably damaging Het
Zfp318 G A 17: 46,723,301 (GRCm39) C1768Y probably damaging Het
Other mutations in Pcdhgb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4200:Pcdhgb5 UTSW 18 37,865,035 (GRCm39) missense possibly damaging 0.77
R4205:Pcdhgb5 UTSW 18 37,865,716 (GRCm39) missense possibly damaging 0.82
R4880:Pcdhgb5 UTSW 18 37,865,641 (GRCm39) missense probably benign 0.00
R5482:Pcdhgb5 UTSW 18 37,864,585 (GRCm39) missense probably damaging 1.00
R5579:Pcdhgb5 UTSW 18 37,864,690 (GRCm39) missense probably benign 0.25
R5683:Pcdhgb5 UTSW 18 37,864,907 (GRCm39) missense probably damaging 1.00
R5699:Pcdhgb5 UTSW 18 37,864,970 (GRCm39) missense probably damaging 0.99
R6127:Pcdhgb5 UTSW 18 37,865,932 (GRCm39) missense probably damaging 0.99
R6216:Pcdhgb5 UTSW 18 37,864,981 (GRCm39) missense probably benign 0.09
R6279:Pcdhgb5 UTSW 18 37,865,752 (GRCm39) missense probably damaging 1.00
R6300:Pcdhgb5 UTSW 18 37,865,752 (GRCm39) missense probably damaging 1.00
R6441:Pcdhgb5 UTSW 18 37,865,138 (GRCm39) missense probably damaging 1.00
R6675:Pcdhgb5 UTSW 18 37,864,255 (GRCm39) missense probably damaging 1.00
R6678:Pcdhgb5 UTSW 18 37,864,255 (GRCm39) missense probably damaging 1.00
R6856:Pcdhgb5 UTSW 18 37,866,457 (GRCm39) missense probably benign 0.04
R6942:Pcdhgb5 UTSW 18 37,865,696 (GRCm39) missense probably damaging 1.00
R6976:Pcdhgb5 UTSW 18 37,864,321 (GRCm39) missense probably damaging 1.00
R6980:Pcdhgb5 UTSW 18 37,866,592 (GRCm39) missense possibly damaging 0.47
R7061:Pcdhgb5 UTSW 18 37,864,976 (GRCm39) missense probably benign 0.25
R7506:Pcdhgb5 UTSW 18 37,865,525 (GRCm39) missense probably damaging 1.00
R7698:Pcdhgb5 UTSW 18 37,865,684 (GRCm39) missense probably damaging 1.00
R7760:Pcdhgb5 UTSW 18 37,864,690 (GRCm39) missense not run
R7776:Pcdhgb5 UTSW 18 37,866,007 (GRCm39) missense probably damaging 1.00
R8117:Pcdhgb5 UTSW 18 37,866,302 (GRCm39) missense probably damaging 1.00
R8836:Pcdhgb5 UTSW 18 37,865,260 (GRCm39) missense probably benign 0.30
R8854:Pcdhgb5 UTSW 18 37,865,501 (GRCm39) missense probably benign 0.00
R9063:Pcdhgb5 UTSW 18 37,864,739 (GRCm39) missense probably damaging 1.00
R9420:Pcdhgb5 UTSW 18 37,864,838 (GRCm39) missense probably benign 0.10
R9490:Pcdhgb5 UTSW 18 37,865,240 (GRCm39) missense probably benign 0.28
R9567:Pcdhgb5 UTSW 18 37,864,982 (GRCm39) missense probably damaging 0.99
R9620:Pcdhgb5 UTSW 18 37,864,486 (GRCm39) nonsense probably null
R9655:Pcdhgb5 UTSW 18 37,865,122 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTCACAGAGCTGGGCAAGTG -3'
(R):5'- TATTCTGGAGTCAGCTCTCGG -3'

Sequencing Primer
(F):5'- GGCAAGTGTTTGGTCTAAATTCAAAG -3'
(R):5'- GGTCTAAGGCTCTATCCGTAAC -3'
Posted On 2020-07-28