Incidental Mutation 'R6497:Pcdhgb7'
ID 523087
Institutional Source Beutler Lab
Gene Symbol Pcdhgb7
Ensembl Gene ENSMUSG00000104063
Gene Name protocadherin gamma subfamily B, 7
Synonyms
MMRRC Submission 044629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6497 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37884672-37974923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37886906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 692 (V692E)
Ref Sequence ENSEMBL: ENSMUSP00000141997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000061279] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000194928] [ENSMUST00000193414] [ENSMUST00000192931] [ENSMUST00000192535] [ENSMUST00000194190] [ENSMUST00000192511] [ENSMUST00000193404] [ENSMUST00000193869] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195823] [ENSMUST00000195112] [ENSMUST00000195363]
AlphaFold Q91XX3
Predicted Effect probably benign
Transcript: ENSMUST00000003599
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088

DomainStartEndE-ValueType
CA 47 131 8.06e-6 SMART
CA 155 240 2.29e-19 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 4.94e-24 SMART
CA 474 560 7.6e-25 SMART
CA 591 672 9.18e-10 SMART
Pfam:Cadherin_C_2 687 768 3.5e-20 PFAM
Pfam:Cadherin_tail 807 930 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061279
SMART Domains Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742

DomainStartEndE-ValueType
CA 45 131 3.23e-2 SMART
CA 155 240 2.22e-17 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 7.09e-25 SMART
CA 474 560 3.55e-25 SMART
CA 591 669 2.53e-12 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 914 933 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000180922
Predicted Effect probably damaging
Transcript: ENSMUST00000194928
AA Change: V692E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
AA Change: V692E

DomainStartEndE-ValueType
CA 47 131 2.48e-6 SMART
CA 155 240 1.57e-17 SMART
CA 264 343 1.29e-27 SMART
CA 367 448 9.14e-28 SMART
CA 472 558 1.24e-24 SMART
CA 589 670 3.73e-10 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 716 721 N/A INTRINSIC
low complexity region 910 929 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180931
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: 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: ENSMUST00000192535
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

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: 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 noncoding transcript
Transcript: ENSMUST00000192501
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: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000193404
SMART Domains Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222

DomainStartEndE-ValueType
CA 43 129 2.76e-2 SMART
CA 153 238 1.16e-20 SMART
CA 262 343 1.25e-25 SMART
CA 367 448 4.75e-26 SMART
CA 472 558 3.69e-23 SMART
CA 589 667 3.84e-12 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 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 noncoding transcript
Transcript: ENSMUST00000192805
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: 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: 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
Meta Mutation Damage Score 0.5046 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,793,544 (GRCm39) Y399N probably damaging Het
Acsm3 G A 7: 119,379,972 (GRCm39) probably null Het
Aldh16a1 T A 7: 44,794,361 (GRCm39) S556C possibly damaging Het
Armc7 T C 11: 115,367,077 (GRCm39) I74T probably benign Het
Atp13a4 T C 16: 29,298,719 (GRCm39) D80G probably damaging Het
Bicral A T 17: 47,136,499 (GRCm39) I237K probably damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Cd209c T C 8: 3,994,122 (GRCm39) K113E possibly damaging Het
Cdh20 G A 1: 109,993,528 (GRCm39) probably null Het
Clca3a1 A T 3: 144,465,020 (GRCm39) V71D possibly damaging Het
Cntnap5a T C 1: 116,505,627 (GRCm39) L1228P probably damaging Het
Cntrl A G 2: 35,025,584 (GRCm39) N85D possibly damaging Het
Coch G A 12: 51,649,504 (GRCm39) V272M probably benign Het
Col22a1 T C 15: 71,762,425 (GRCm39) E78G possibly damaging Het
Cyp2c66 T A 19: 39,151,821 (GRCm39) C179S probably damaging Het
Dsg3 A G 18: 20,670,305 (GRCm39) I681V probably benign Het
Egflam A T 15: 7,280,784 (GRCm39) probably null Het
Fut10 T A 8: 31,726,278 (GRCm39) D344E probably damaging Het
Gad2 C T 2: 22,558,269 (GRCm39) P329L probably damaging Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gprc6a T C 10: 51,491,797 (GRCm39) I476V probably benign Het
Limk2 A G 11: 3,310,492 (GRCm39) F71L probably benign Het
Neb A T 2: 52,148,301 (GRCm39) N2648K possibly damaging Het
Or51f5 T A 7: 102,424,657 (GRCm39) F309I probably benign Het
Or52d1 T C 7: 103,756,422 (GRCm39) probably benign Het
Or8d1b G A 9: 38,887,490 (GRCm39) V173I probably benign Het
Pclo A C 5: 14,843,869 (GRCm39) K4802Q unknown Het
Primpol A T 8: 47,039,376 (GRCm39) probably null Het
Prr14 C T 7: 127,073,750 (GRCm39) R205C probably benign Het
Rbm12b1 T C 4: 12,146,431 (GRCm39) I801T probably benign Het
Ror2 A T 13: 53,285,955 (GRCm39) N86K probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Skint6 A G 4: 113,093,595 (GRCm39) Y183H probably damaging Het
Snapc3 G T 4: 83,371,363 (GRCm39) E388* probably null Het
Srrm4 A T 5: 116,605,550 (GRCm39) S236T unknown Het
Srrt G T 5: 137,295,768 (GRCm39) P193H probably damaging Het
Sspo A T 6: 48,472,142 (GRCm39) T810S possibly damaging Het
Stk36 A G 1: 74,642,391 (GRCm39) H6R probably damaging Het
Tiam2 A G 17: 3,557,102 (GRCm39) T1181A probably damaging Het
Tmem184a A G 5: 139,798,755 (GRCm39) F65L probably damaging Het
Vwa8 A G 14: 79,333,841 (GRCm39) I1330M probably benign Het
Zfp827 T A 8: 79,906,757 (GRCm39) M923K probably damaging Het
Other mutations in Pcdhgb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03134:Pcdhgb7 UTSW 18 37,884,935 (GRCm39) missense probably damaging 1.00
R3820:Pcdhgb7 UTSW 18 37,885,286 (GRCm39) missense possibly damaging 0.79
R3821:Pcdhgb7 UTSW 18 37,885,286 (GRCm39) missense possibly damaging 0.79
R4014:Pcdhgb7 UTSW 18 37,885,416 (GRCm39) missense probably benign 0.01
R4223:Pcdhgb7 UTSW 18 37,886,856 (GRCm39) missense probably benign 0.06
R4224:Pcdhgb7 UTSW 18 37,886,856 (GRCm39) missense probably benign 0.06
R4225:Pcdhgb7 UTSW 18 37,886,856 (GRCm39) missense probably benign 0.06
R4366:Pcdhgb7 UTSW 18 37,887,125 (GRCm39) missense possibly damaging 0.62
R4622:Pcdhgb7 UTSW 18 37,886,183 (GRCm39) missense probably benign 0.00
R5117:Pcdhgb7 UTSW 18 37,885,939 (GRCm39) missense probably damaging 0.99
R5226:Pcdhgb7 UTSW 18 37,885,577 (GRCm39) missense probably benign 0.32
R5253:Pcdhgb7 UTSW 18 37,886,150 (GRCm39) missense possibly damaging 0.82
R5317:Pcdhgb7 UTSW 18 37,885,887 (GRCm39) missense probably benign 0.01
R6183:Pcdhgb7 UTSW 18 37,885,315 (GRCm39) missense probably damaging 0.97
R6590:Pcdhgb7 UTSW 18 37,886,050 (GRCm39) missense probably benign 0.00
R6690:Pcdhgb7 UTSW 18 37,886,050 (GRCm39) missense probably benign 0.00
R7022:Pcdhgb7 UTSW 18 37,886,086 (GRCm39) missense probably damaging 0.98
R7703:Pcdhgb7 UTSW 18 37,885,321 (GRCm39) missense probably benign
R8473:Pcdhgb7 UTSW 18 37,886,852 (GRCm39) missense probably benign 0.00
R8859:Pcdhgb7 UTSW 18 37,886,349 (GRCm39) missense possibly damaging 0.69
R8873:Pcdhgb7 UTSW 18 37,886,575 (GRCm39) missense possibly damaging 0.90
R8970:Pcdhgb7 UTSW 18 37,885,631 (GRCm39) missense probably benign 0.00
R8995:Pcdhgb7 UTSW 18 37,885,230 (GRCm39) missense probably damaging 1.00
R9280:Pcdhgb7 UTSW 18 37,886,585 (GRCm39) missense probably damaging 1.00
R9370:Pcdhgb7 UTSW 18 37,884,937 (GRCm39) missense possibly damaging 0.93
R9439:Pcdhgb7 UTSW 18 37,884,917 (GRCm39) missense probably benign 0.06
R9523:Pcdhgb7 UTSW 18 37,886,636 (GRCm39) missense probably damaging 1.00
R9803:Pcdhgb7 UTSW 18 37,885,088 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGGATGCAGCTCGTCAG -3'
(R):5'- ACAATCTCCAACGGATGAGAAG -3'

Sequencing Primer
(F):5'- TCAGCGCCTTCTGGTCG -3'
(R):5'- GGTTTAAGTTGATCTCCCGGCAC -3'
Posted On 2018-06-06