Incidental Mutation 'R5699:Pcdhgb5'
ID 446596
Institutional Source Beutler Lab
Gene Symbol Pcdhgb5
Ensembl Gene ENSMUSG00000103749
Gene Name protocadherin gamma subfamily B, 5
Synonyms
MMRRC Submission 043327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5699 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37864062-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37864970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 255 (V255E)
Ref Sequence ENSEMBL: ENSMUSP00000142010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000195823] [ENSMUST00000195363] [ENSMUST00000195112] [ENSMUST00000194544]
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: 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 damaging
Transcript: ENSMUST00000192535
AA Change: V255E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: V255E

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 noncoding transcript
Transcript: ENSMUST00000193006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195069
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: 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: 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
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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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. 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,225,320 (GRCm39) noncoding transcript Het
4930486L24Rik A G 13: 61,001,410 (GRCm39) F106L possibly damaging Het
Adam11 A T 11: 102,664,466 (GRCm39) M385L probably benign Het
Adgre1 C T 17: 57,788,007 (GRCm39) P925S probably benign Het
Adh7 G A 3: 137,932,087 (GRCm39) A234T probably benign Het
Ano2 A G 6: 125,849,703 (GRCm39) E475G probably damaging Het
C2cd4c A G 10: 79,448,385 (GRCm39) V254A probably benign Het
Car13 A G 3: 14,715,749 (GRCm39) Y89C probably damaging Het
Cd38 A G 5: 44,057,728 (GRCm39) K100R probably damaging Het
Cdh11 A G 8: 103,361,175 (GRCm39) I721T probably damaging Het
Cdh2 G A 18: 16,779,579 (GRCm39) Q161* probably null Het
Clk1 T C 1: 58,459,354 (GRCm39) K135R probably damaging Het
Col5a1 G A 2: 27,887,611 (GRCm39) G961R unknown Het
Cpt1b T A 15: 89,308,476 (GRCm39) I151F probably benign Het
Cyp51 A G 5: 4,151,213 (GRCm39) F139L probably damaging Het
Disp1 TTGA T 1: 182,870,119 (GRCm39) probably null Het
Dnah8 T C 17: 31,029,298 (GRCm39) I4089T probably benign Het
Dnali1 C T 4: 124,952,843 (GRCm39) V227M possibly damaging Het
Eml4 T G 17: 83,717,514 (GRCm39) S29A probably benign Het
Eps8l3 C A 3: 107,786,895 (GRCm39) P24T probably benign Het
Fancc A T 13: 63,478,446 (GRCm39) probably null Het
Firrm A T 1: 163,785,120 (GRCm39) V753D probably benign Het
Grid2 G A 6: 63,885,975 (GRCm39) A124T probably damaging Het
Ikbke C T 1: 131,204,204 (GRCm39) probably null Het
Kyat1 G A 2: 30,076,662 (GRCm39) A284V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmbrd2 G T 15: 9,175,269 (GRCm39) L393F probably benign Het
Lrrc26 T A 2: 25,180,536 (GRCm39) L179Q probably damaging Het
Mlx A G 11: 100,979,520 (GRCm39) D113G possibly damaging Het
Myod1 A G 7: 46,026,407 (GRCm39) K104R probably damaging Het
Nwd1 G A 8: 73,429,602 (GRCm39) probably null Het
Or56b2j T G 7: 104,353,200 (GRCm39) V142G probably damaging Het
Or5b118 A G 19: 13,448,336 (GRCm39) M1V probably null Het
Or6c3 A C 10: 129,308,746 (GRCm39) N62H probably damaging Het
Pacsin3 A T 2: 91,093,126 (GRCm39) Y206F probably damaging Het
Pdp1 T C 4: 11,960,907 (GRCm39) D468G possibly damaging Het
Pgr C T 9: 8,900,600 (GRCm39) probably benign Het
Prrt2 T A 7: 126,617,899 (GRCm39) Y345F probably benign Het
Rbbp8nl T C 2: 179,920,461 (GRCm39) T515A probably damaging Het
Rc3h1 G T 1: 160,757,823 (GRCm39) R47L probably damaging Het
Rfpl4b T A 10: 38,697,281 (GRCm39) I107F possibly damaging Het
Rsbn1 T C 3: 103,869,801 (GRCm39) F754S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn3a T C 2: 65,337,608 (GRCm39) T630A possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slco1a5 C A 6: 142,194,542 (GRCm39) C367F probably damaging Het
Slit1 A G 19: 41,613,959 (GRCm39) probably null Het
Slit2 G A 5: 48,378,333 (GRCm39) probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Stk16 T A 1: 75,190,248 (GRCm39) M111K probably damaging Het
Tbc1d2 T C 4: 46,616,298 (GRCm39) I477V probably benign Het
Tll1 T A 8: 64,570,974 (GRCm39) E199D probably damaging Het
Trhde A T 10: 114,424,407 (GRCm39) D459E probably benign Het
Ttn T C 2: 76,541,881 (GRCm39) R25375G possibly damaging Het
Tubgcp2 A T 7: 139,578,701 (GRCm39) M757K possibly damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ubqln5 A G 7: 103,778,632 (GRCm39) V64A possibly damaging Het
Usp47 A G 7: 111,709,204 (GRCm39) M1337V probably benign Het
Vmn1r201 T A 13: 22,659,409 (GRCm39) Y208N probably damaging Het
Xkr8 C T 4: 132,455,368 (GRCm39) R335H probably damaging Het
Zbtb49 A T 5: 38,373,870 (GRCm39) C25S probably damaging Het
Zeb2 T A 2: 44,887,800 (GRCm39) N404I 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
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
R8273:Pcdhgb5 UTSW 18 37,865,240 (GRCm39) missense probably benign 0.28
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'- AGAAAACTTTAGACCGCGAGC -3'
(R):5'- TTCAACTGTACATTGTGCAACC -3'

Sequencing Primer
(F):5'- TTTAGACCGCGAGCAACAG -3'
(R):5'- TGTACATTGTGCAACCAGGCC -3'
Posted On 2016-11-21