Incidental Mutation 'R4095:Pcdhgb2'
ID 317887
Institutional Source Beutler Lab
Gene Symbol Pcdhgb2
Ensembl Gene ENSMUSG00000102748
Gene Name protocadherin gamma subfamily B, 2
Synonyms
MMRRC Submission 040858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4095 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37822912-37974925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37824003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 331 (S331R)
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 benign
Transcript: ENSMUST00000195112
AA Change: S331R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: S331R

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
Meta Mutation Damage Score 0.2233 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 53,186,245 (GRCm39) I1220L probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Apba1 A T 19: 23,921,388 (GRCm39) Q737L probably benign Het
Arvcf T A 16: 18,220,327 (GRCm39) D564E probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Brd9 G A 13: 74,092,918 (GRCm39) V302I probably benign Het
Brinp3 C A 1: 146,777,430 (GRCm39) H626N possibly damaging Het
C1qc T C 4: 136,617,637 (GRCm39) N153S probably benign Het
Casp3 G A 8: 47,087,251 (GRCm39) G66D probably damaging Het
Coq7 T G 7: 118,126,701 (GRCm39) probably null Het
Dach1 C T 14: 98,138,815 (GRCm39) V491M possibly damaging Het
Dda1 A G 8: 71,926,436 (GRCm39) T52A possibly damaging Het
Entpd7 A G 19: 43,692,640 (GRCm39) Y65C probably damaging Het
Fmnl2 A G 2: 52,991,535 (GRCm39) D350G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Gbp2 A G 3: 142,343,210 (GRCm39) T576A probably benign Het
Gm15446 T A 5: 110,088,590 (GRCm39) probably null Het
Gtf2a1 G T 12: 91,542,411 (GRCm39) T57K possibly damaging Het
Hps5 T C 7: 46,425,218 (GRCm39) E494G probably benign Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Hydin A G 8: 111,268,179 (GRCm39) N2886S probably damaging Het
Ighv2-6-8 T C 12: 113,759,773 (GRCm39) Y112C probably damaging Het
Kcnf1 A T 12: 17,225,480 (GRCm39) L247Q possibly damaging Het
Kndc1 A G 7: 139,516,938 (GRCm39) M1606V possibly damaging Het
Krt27 T C 11: 99,236,619 (GRCm39) T431A probably benign Het
Lama4 A T 10: 38,973,118 (GRCm39) I1562F probably damaging Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp1b G A 2: 41,339,203 (GRCm39) T880I probably benign Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Mapt T C 11: 104,201,362 (GRCm39) probably null Het
Mpdz A T 4: 81,302,060 (GRCm39) V229D possibly damaging Het
Or10am5 T A 7: 6,518,252 (GRCm39) S59C possibly damaging Het
Or6e1 T C 14: 54,520,188 (GRCm39) T55A probably benign Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Parm1 T C 5: 91,742,039 (GRCm39) S136P probably benign Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Rell1 C A 5: 64,126,013 (GRCm39) V22L probably benign Het
Sema6c T A 3: 95,080,505 (GRCm39) L901Q probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a23 A G 13: 34,489,189 (GRCm39) L116P probably damaging Het
Slit1 A T 19: 41,596,925 (GRCm39) probably benign Het
Spns1 T C 7: 125,969,958 (GRCm39) T481A probably damaging Het
Tmem104 T A 11: 115,134,749 (GRCm39) Y427* probably null Het
Tmem74 G A 15: 43,730,678 (GRCm39) Q122* probably null Het
Tnpo2 T A 8: 85,765,048 (GRCm39) L10Q probably damaging Het
Trav6-2 G T 14: 52,905,272 (GRCm39) A98S probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ube2b A C 11: 51,888,654 (GRCm39) V39G possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Wnk1 G A 6: 119,925,087 (GRCm39) T1459I probably damaging Het
Zc3h7a T C 16: 10,963,099 (GRCm39) K754R probably damaging Het
Zfp605 A G 5: 110,275,602 (GRCm39) K240R probably damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null Het
Other mutations in Pcdhgb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2906:Pcdhgb2 UTSW 18 37,823,908 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- TGCAGAAATCACCTACGCTTTTC -3'
(R):5'- CGGTCTAGAGTTCTGTCTGTCAC -3'

Sequencing Primer
(F):5'- ACCTACGCTTTTCACAATGTGGATG -3'
(R):5'- CTAGAGTTCTGTCTGTCACTAGTTTG -3'
Posted On 2015-05-15