Incidental Mutation 'R8415:Pcdhb2'
ID 652920
Institutional Source Beutler Lab
Gene Symbol Pcdhb2
Ensembl Gene ENSMUSG00000051599
Gene Name protocadherin beta 2
Synonyms PcdhbB
MMRRC Submission 067769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8415 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37427893-37430667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37429110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 361 (N361S)
Ref Sequence ENSEMBL: ENSMUSP00000057921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]
AlphaFold Q91Y00
Predicted Effect probably benign
Transcript: ENSMUST00000051754
SMART Domains Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
CA 44 131 6.29e-1 SMART
CA 155 240 7.16e-21 SMART
CA 264 345 1.22e-23 SMART
CA 368 449 2.86e-20 SMART
CA 473 559 2.55e-26 SMART
CA 589 670 1.11e-8 SMART
Pfam:Cadherin_C_2 687 770 9.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056522
AA Change: N361S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: N361S

DomainStartEndE-ValueType
Pfam:Cadherin_2 32 114 5.2e-33 PFAM
CA 157 242 1.74e-19 SMART
CA 266 347 5.99e-23 SMART
CA 370 451 1.16e-20 SMART
CA 475 561 5.94e-27 SMART
CA 591 672 2.03e-11 SMART
Pfam:Cadherin_C_2 688 771 3.5e-26 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: ENSMUST00000193137
SMART Domains Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

DomainStartEndE-ValueType
CA 13 94 1.8e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,475,947 (GRCm39) H317R unknown Het
Aox1 A T 1: 58,080,638 (GRCm39) Y29F probably damaging Het
Bnip2 T C 9: 69,910,967 (GRCm39) F304S possibly damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Ccdc18 T A 5: 108,363,899 (GRCm39) V1198E probably damaging Het
Cnot3 T C 7: 3,661,687 (GRCm39) F660L probably benign Het
Cntnap3 A G 13: 64,886,479 (GRCm39) I1249T probably benign Het
Ctnna3 A G 10: 63,339,909 (GRCm39) I32V probably benign Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Dnaaf6rt A G 1: 31,262,564 (GRCm39) N182S probably benign Het
Dpagt1 C A 9: 44,238,482 (GRCm39) N49K possibly damaging Het
Dsg3 A T 18: 20,656,765 (GRCm39) S212C probably damaging Het
Epb41l1 C T 2: 156,368,873 (GRCm39) A714V probably benign Het
Eppk1 A G 15: 75,995,831 (GRCm39) V350A probably benign Het
Frem1 T G 4: 82,918,499 (GRCm39) D481A probably damaging Het
Git2 T C 5: 114,871,989 (GRCm39) K532E possibly damaging Het
Glyr1 T C 16: 4,854,329 (GRCm39) H102R probably benign Het
Hdgfl2 C T 17: 56,400,712 (GRCm39) P160L probably benign Het
Hivep1 T C 13: 42,308,905 (GRCm39) S382P probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hydin G A 8: 111,178,626 (GRCm39) G1074R probably damaging Het
Ift140 A G 17: 25,311,889 (GRCm39) I1271V probably damaging Het
Krt28 T A 11: 99,265,626 (GRCm39) I14L probably benign Het
Lrtm2 A T 6: 119,294,458 (GRCm39) D224E probably damaging Het
Map1s G A 8: 71,365,910 (GRCm39) V272M probably damaging Het
Mast3 A G 8: 71,233,866 (GRCm39) Y960H probably damaging Het
Mettl25 G T 10: 105,662,002 (GRCm39) Q323K probably benign Het
Mlh3 A T 12: 85,315,854 (GRCm39) S111T probably benign Het
Muc17 A G 5: 137,172,798 (GRCm39) L85P Het
Myh6 C G 14: 55,181,835 (GRCm39) R1822P probably damaging Het
Myof C T 19: 37,983,872 (GRCm39) G144E probably benign Het
Nat8f2 A G 6: 85,845,024 (GRCm39) S113P probably damaging Het
Nlrp9a A T 7: 26,256,925 (GRCm39) Y181F probably benign Het
Nup85 A G 11: 115,457,468 (GRCm39) I57V probably benign Het
Or4c99 T A 2: 88,329,710 (GRCm39) C94S probably damaging Het
Or5p79 C T 7: 108,221,163 (GRCm39) T48I probably damaging Het
Or7e170 T A 9: 19,795,409 (GRCm39) Y64F possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Phf20 C T 2: 156,129,913 (GRCm39) T495M probably benign Het
Pitpnm1 T C 19: 4,155,454 (GRCm39) M368T probably benign Het
Pter A G 2: 13,005,700 (GRCm39) D291G probably damaging Het
Rasgrp2 T G 19: 6,454,781 (GRCm39) V207G probably damaging Het
Rnd2 A T 11: 101,362,011 (GRCm39) Q188L probably benign Het
Sh3d19 T A 3: 85,992,363 (GRCm39) D130E probably benign Het
Slc7a2 A T 8: 41,369,396 (GRCm39) Y617F probably damaging Het
Snx29 T C 16: 11,265,291 (GRCm39) L165P probably damaging Het
St7 T C 6: 17,848,080 (GRCm39) probably null Het
Tas2r115 A G 6: 132,714,798 (GRCm39) L51P probably damaging Het
Tead1 C A 7: 112,456,135 (GRCm39) P164Q probably benign Het
Thop1 A G 10: 80,914,385 (GRCm39) Y224C probably damaging Het
Twf1 T C 15: 94,477,702 (GRCm39) *351W probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Utp20 A G 10: 88,662,466 (GRCm39) probably null Het
Vmn2r118 G T 17: 55,915,057 (GRCm39) L530I probably benign Het
Vmn2r30 A T 7: 7,315,359 (GRCm39) C825S probably damaging Het
Vps13d A T 4: 144,818,549 (GRCm39) M3106K Het
Wfdc15a A T 2: 164,041,671 (GRCm39) C51S probably damaging Het
Zc3hc1 T C 6: 30,375,951 (GRCm39) D203G probably damaging Het
Zfhx2 G T 14: 55,308,079 (GRCm39) D932E probably benign Het
Zfp267 G A 3: 36,219,182 (GRCm39) G402S probably damaging Het
Other mutations in Pcdhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Pcdhb2 APN 18 37,429,516 (GRCm39) splice site probably null
IGL01538:Pcdhb2 APN 18 37,428,375 (GRCm39) nonsense probably null
IGL01716:Pcdhb2 APN 18 37,429,791 (GRCm39) missense probably damaging 0.99
IGL01747:Pcdhb2 APN 18 37,429,356 (GRCm39) missense probably damaging 1.00
IGL01770:Pcdhb2 APN 18 37,429,356 (GRCm39) missense probably damaging 1.00
IGL01999:Pcdhb2 APN 18 37,429,890 (GRCm39) missense probably damaging 1.00
IGL02174:Pcdhb2 APN 18 37,429,551 (GRCm39) missense probably damaging 1.00
IGL02325:Pcdhb2 APN 18 37,429,733 (GRCm39) missense possibly damaging 0.91
IGL03148:Pcdhb2 APN 18 37,429,831 (GRCm39) missense probably damaging 1.00
IGL03263:Pcdhb2 APN 18 37,429,059 (GRCm39) missense probably damaging 1.00
R0158:Pcdhb2 UTSW 18 37,430,283 (GRCm39) missense probably damaging 1.00
R0512:Pcdhb2 UTSW 18 37,429,032 (GRCm39) missense probably damaging 1.00
R0656:Pcdhb2 UTSW 18 37,428,543 (GRCm39) missense probably damaging 1.00
R0670:Pcdhb2 UTSW 18 37,429,701 (GRCm39) missense probably damaging 1.00
R0698:Pcdhb2 UTSW 18 37,430,419 (GRCm39) missense probably benign 0.00
R0825:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0827:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0862:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R0863:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R1344:Pcdhb2 UTSW 18 37,428,710 (GRCm39) missense possibly damaging 0.61
R1440:Pcdhb2 UTSW 18 37,429,343 (GRCm39) missense probably benign 0.22
R1826:Pcdhb2 UTSW 18 37,429,038 (GRCm39) missense probably damaging 0.99
R1828:Pcdhb2 UTSW 18 37,429,038 (GRCm39) missense probably damaging 0.99
R1869:Pcdhb2 UTSW 18 37,430,408 (GRCm39) splice site probably null
R1871:Pcdhb2 UTSW 18 37,430,408 (GRCm39) splice site probably null
R2292:Pcdhb2 UTSW 18 37,430,297 (GRCm39) splice site probably null
R3743:Pcdhb2 UTSW 18 37,429,470 (GRCm39) missense probably damaging 1.00
R4067:Pcdhb2 UTSW 18 37,430,367 (GRCm39) splice site probably null
R4127:Pcdhb2 UTSW 18 37,428,594 (GRCm39) missense probably damaging 0.97
R4402:Pcdhb2 UTSW 18 37,428,455 (GRCm39) missense probably benign 0.05
R4579:Pcdhb2 UTSW 18 37,429,168 (GRCm39) missense probably damaging 1.00
R4621:Pcdhb2 UTSW 18 37,428,980 (GRCm39) missense probably benign 0.44
R4678:Pcdhb2 UTSW 18 37,429,260 (GRCm39) missense probably damaging 1.00
R5143:Pcdhb2 UTSW 18 37,429,785 (GRCm39) missense probably damaging 1.00
R5152:Pcdhb2 UTSW 18 37,429,179 (GRCm39) missense probably damaging 0.97
R6552:Pcdhb2 UTSW 18 37,429,046 (GRCm39) missense probably benign
R6908:Pcdhb2 UTSW 18 37,429,577 (GRCm39) missense probably damaging 1.00
R6973:Pcdhb2 UTSW 18 37,429,416 (GRCm39) missense probably benign 0.03
R7143:Pcdhb2 UTSW 18 37,428,934 (GRCm39) missense probably benign 0.05
R7248:Pcdhb2 UTSW 18 37,429,547 (GRCm39) missense probably damaging 1.00
R7586:Pcdhb2 UTSW 18 37,428,857 (GRCm39) nonsense probably null
R7634:Pcdhb2 UTSW 18 37,428,000 (GRCm39) intron probably benign
R7796:Pcdhb2 UTSW 18 37,428,446 (GRCm39) missense possibly damaging 0.63
R7862:Pcdhb2 UTSW 18 37,429,113 (GRCm39) missense probably benign 0.25
R8950:Pcdhb2 UTSW 18 37,429,715 (GRCm39) missense probably damaging 1.00
R9351:Pcdhb2 UTSW 18 37,429,369 (GRCm39) missense probably damaging 1.00
R9360:Pcdhb2 UTSW 18 37,429,551 (GRCm39) missense probably damaging 1.00
R9592:Pcdhb2 UTSW 18 37,429,266 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAGCCTCTGAAGACATTCGG -3'
(R):5'- TGATCTGGTCTCTCGATCCAGG -3'

Sequencing Primer
(F):5'- GTTTCGAATGAATGCAACATCCGG -3'
(R):5'- TCTCTCGATCCAGGGCTGTG -3'
Posted On 2020-10-20