Incidental Mutation 'R2906:Pcdhgb2'
ID 477241
Institutional Source Beutler Lab
Gene Symbol Pcdhgb2
Ensembl Gene ENSMUSG00000102748
Gene Name protocadherin gamma subfamily B, 2
Synonyms
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2906 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37822912-37974925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37823908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 300 (I300F)
Ref Sequence ENSEMBL: ENSMUSP00000141449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000195112] [ENSMUST00000194544] [ENSMUST00000194190] [ENSMUST00000194418]
AlphaFold Q91XX7
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: 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 noncoding transcript
Transcript: ENSMUST00000193631
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 damaging
Transcript: ENSMUST00000195112
AA Change: I300F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: I300F

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 noncoding transcript
Transcript: ENSMUST00000195624
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
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: ENSMUST00000195163
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign Het
Other mutations in Pcdhgb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3081:Pcdhgb2 UTSW 18 37,824,566 (GRCm39) missense probably damaging 1.00
R3780:Pcdhgb2 UTSW 18 37,824,810 (GRCm39) missense probably damaging 1.00
R4095:Pcdhgb2 UTSW 18 37,824,003 (GRCm39) missense probably benign 0.01
R4258:Pcdhgb2 UTSW 18 37,825,102 (GRCm39) missense probably damaging 1.00
R4261:Pcdhgb2 UTSW 18 37,824,950 (GRCm39) missense probably damaging 1.00
R4695:Pcdhgb2 UTSW 18 37,825,375 (GRCm39) missense probably benign 0.00
R4741:Pcdhgb2 UTSW 18 37,824,737 (GRCm39) splice site probably null
R4824:Pcdhgb2 UTSW 18 37,823,502 (GRCm39) missense probably damaging 1.00
R4852:Pcdhgb2 UTSW 18 37,825,103 (GRCm39) missense probably damaging 1.00
R4858:Pcdhgb2 UTSW 18 37,825,153 (GRCm39) missense probably benign 0.22
R4933:Pcdhgb2 UTSW 18 37,825,267 (GRCm39) missense probably benign 0.07
R5240:Pcdhgb2 UTSW 18 37,824,103 (GRCm39) missense possibly damaging 0.87
R5791:Pcdhgb2 UTSW 18 37,825,393 (GRCm39) missense possibly damaging 0.92
R5973:Pcdhgb2 UTSW 18 37,823,560 (GRCm39) missense probably benign 0.00
R6059:Pcdhgb2 UTSW 18 37,823,078 (GRCm39) nonsense probably null
R6217:Pcdhgb2 UTSW 18 37,823,054 (GRCm39) missense possibly damaging 0.71
R6903:Pcdhgb2 UTSW 18 37,825,223 (GRCm39) missense possibly damaging 0.94
R6953:Pcdhgb2 UTSW 18 37,823,807 (GRCm39) missense possibly damaging 0.95
R7150:Pcdhgb2 UTSW 18 37,825,300 (GRCm39) missense possibly damaging 0.89
R7214:Pcdhgb2 UTSW 18 37,823,159 (GRCm39) missense probably damaging 1.00
R7453:Pcdhgb2 UTSW 18 37,824,068 (GRCm39) missense probably damaging 0.96
R7728:Pcdhgb2 UTSW 18 37,824,260 (GRCm39) missense probably damaging 1.00
R7754:Pcdhgb2 UTSW 18 37,823,023 (GRCm39) missense probably benign 0.23
R7846:Pcdhgb2 UTSW 18 37,825,273 (GRCm39) missense possibly damaging 0.88
R8001:Pcdhgb2 UTSW 18 37,823,687 (GRCm39) missense probably benign 0.06
R8079:Pcdhgb2 UTSW 18 37,823,816 (GRCm39) missense probably damaging 1.00
R8438:Pcdhgb2 UTSW 18 37,825,232 (GRCm39) missense probably benign 0.20
R8873:Pcdhgb2 UTSW 18 37,824,341 (GRCm39) missense probably damaging 0.98
R9655:Pcdhgb2 UTSW 18 37,823,285 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhgb2 UTSW 18 37,825,201 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-05-15