Incidental Mutation 'R7698:Pcdhgb5'
ID 593816
Institutional Source Beutler Lab
Gene Symbol Pcdhgb5
Ensembl Gene ENSMUSG00000103749
Gene Name protocadherin gamma subfamily B, 5
Synonyms
MMRRC Submission 045759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37864062-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37865684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 493 (E493G)
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 damaging
Transcript: ENSMUST00000192535
AA Change: E493G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
AA Change: E493G

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: 99.7%
  • 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. 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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik C A 14: 33,774,570 (GRCm39) L140F unknown Het
Actn1 T C 12: 80,221,311 (GRCm39) T581A probably benign Het
Ak9 T C 10: 41,224,072 (GRCm39) L495S Het
Aldh5a1 T C 13: 25,095,731 (GRCm39) D462G probably damaging Het
Amz2 A G 11: 109,319,833 (GRCm39) D73G probably damaging Het
Ank2 A G 3: 126,825,860 (GRCm39) Y361H probably benign Het
Atp8b1 A G 18: 64,704,093 (GRCm39) Y342H probably benign Het
Atp8b5 C T 4: 43,366,735 (GRCm39) T833I probably benign Het
Camkk2 A G 5: 122,884,482 (GRCm39) I313T probably damaging Het
Cdk18 T C 1: 132,050,116 (GRCm39) T20A probably damaging Het
Cenpf A T 1: 189,394,269 (GRCm39) C479S probably benign Het
Cfap221 C A 1: 119,889,659 (GRCm39) E192* probably null Het
Cfap44 C T 16: 44,254,149 (GRCm39) H958Y probably damaging Het
Cic A T 7: 24,972,597 (GRCm39) Q776L possibly damaging Het
Cldn17 C A 16: 88,303,244 (GRCm39) G162* probably null Het
Col19a1 T A 1: 24,351,159 (GRCm39) Y748F probably benign Het
Col27a1 C T 4: 63,143,955 (GRCm39) P548S possibly damaging Het
Cracdl T G 1: 37,664,452 (GRCm39) E482A probably benign Het
Ctsr T A 13: 61,310,381 (GRCm39) M92L probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Defa34 G T 8: 22,156,645 (GRCm39) C91F probably damaging Het
Dennd2c G A 3: 103,072,359 (GRCm39) V815I possibly damaging Het
Dlgap4 C T 2: 156,591,015 (GRCm39) Q734* probably null Het
Dph1 A T 11: 75,081,267 (GRCm39) S7T probably benign Het
Dpp8 T C 9: 64,949,618 (GRCm39) V121A probably benign Het
Dst G A 1: 34,229,468 (GRCm39) G2354S probably benign Het
Duox2 A T 2: 122,111,245 (GRCm39) L1453Q probably damaging Het
Ecpas C G 4: 58,832,660 (GRCm39) C900S unknown Het
Exosc10 T A 4: 148,642,955 (GRCm39) S11T probably benign Het
Fetub A G 16: 22,758,059 (GRCm39) T281A probably benign Het
Flii A T 11: 60,610,918 (GRCm39) W504R probably damaging Het
Gm5093 T C 17: 46,750,866 (GRCm39) R54G possibly damaging Het
Gmcl1 T C 6: 86,684,397 (GRCm39) D375G probably benign Het
Hikeshi A T 7: 89,572,889 (GRCm39) N101K probably benign Het
Hmcn2 T C 2: 31,313,165 (GRCm39) V3458A probably damaging Het
Hspa2 A G 12: 76,452,083 (GRCm39) N259S possibly damaging Het
Irf6 T C 1: 192,844,075 (GRCm39) I110T probably damaging Het
Kcnj8 T A 6: 142,511,479 (GRCm39) H376L probably damaging Het
Kdm6b G A 11: 69,296,807 (GRCm39) P487S probably benign Het
Lcp1 C A 14: 75,443,651 (GRCm39) Y222* probably null Het
Manea T C 4: 26,327,763 (GRCm39) D426G probably damaging Het
Map3k20 G T 2: 72,195,025 (GRCm39) E101* probably null Het
Map3k20 C G 2: 72,268,658 (GRCm39) S555C probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myo6 C T 9: 80,124,938 (GRCm39) P6S unknown Het
Myoc A T 1: 162,467,014 (GRCm39) Q61L probably damaging Het
N4bp2 T A 5: 65,965,500 (GRCm39) M1183K probably benign Het
Or52e7 T A 7: 104,685,114 (GRCm39) H236Q probably benign Het
Or5b114-ps1 T C 19: 13,352,404 (GRCm39) F26S probably damaging Het
Or5b21 T C 19: 12,840,077 (GRCm39) S313P possibly damaging Het
Or8b40 T A 9: 38,027,188 (GRCm39) L37* probably null Het
Osbpl11 C G 16: 33,054,817 (GRCm39) N633K probably benign Het
Pate7 T C 9: 35,688,472 (GRCm39) M38V probably benign Het
Phf20 T A 2: 156,136,058 (GRCm39) W626R probably damaging Het
Pkp2 C A 16: 16,058,523 (GRCm39) Q402K probably benign Het
Plch2 C T 4: 155,087,244 (GRCm39) D336N possibly damaging Het
Plk1 T C 7: 121,768,481 (GRCm39) F535L probably damaging Het
Ppp1r9a A T 6: 4,906,430 (GRCm39) E328D probably benign Het
Prss44 G A 9: 110,646,379 (GRCm39) V369M probably benign Het
Rilp A G 11: 75,401,798 (GRCm39) S193G probably benign Het
Rusc2 C T 4: 43,414,900 (GRCm39) Q69* probably null Het
Ryr2 T C 13: 11,776,201 (GRCm39) D1112G possibly damaging Het
Smc6 A G 12: 11,333,141 (GRCm39) R238G possibly damaging Het
Spen A G 4: 141,200,156 (GRCm39) S2824P probably damaging Het
Stk4 T C 2: 163,925,663 (GRCm39) M77T probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Thsd1 C T 8: 22,749,003 (GRCm39) R625* probably null Het
Tle3 A T 9: 61,320,138 (GRCm39) N522I probably damaging Het
Tmcc1 C A 6: 116,020,763 (GRCm39) E230* probably null Het
Vmn2r90 T C 17: 17,953,596 (GRCm39) S587P probably benign Het
Wt1 A T 2: 104,957,161 (GRCm39) Q7L probably benign Het
Zfhx2 T C 14: 55,300,306 (GRCm39) I2482V probably benign Het
Zfpm2 A T 15: 40,959,487 (GRCm39) I189F probably benign 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
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'- ATACAATGTGACCATTACGGCC -3'
(R):5'- TCGAGCGCGGGATACAAAAC -3'

Sequencing Primer
(F):5'- CATTACGGCCACTGACAGAGG -3'
(R):5'- CGGGATACAAAACGCGTGGC -3'
Posted On 2019-11-12