Incidental Mutation 'R6106:Pcdhb11'
ID 485533
Institutional Source Beutler Lab
Gene Symbol Pcdhb11
Ensembl Gene ENSMUSG00000051486
Gene Name protocadherin beta 11
Synonyms PcdhbK, Pcdhb5E
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37554471-37558085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37556056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 462 (N462S)
Ref Sequence ENSEMBL: ENSMUSP00000056148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91UZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000053073
AA Change: N462S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: N462S

DomainStartEndE-ValueType
CA 54 131 3.51e-1 SMART
CA 155 240 4.11e-21 SMART
CA 264 344 6.37e-27 SMART
CA 367 448 4.79e-22 SMART
CA 472 558 7.31e-27 SMART
CA 588 669 2.46e-10 SMART
Pfam:Cadherin_C_2 686 769 3.4e-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: 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Pcdhb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Pcdhb11 APN 18 37,555,026 (GRCm39) missense probably benign 0.00
IGL00906:Pcdhb11 APN 18 37,555,174 (GRCm39) missense possibly damaging 0.67
IGL01610:Pcdhb11 APN 18 37,556,412 (GRCm39) missense probably benign 0.00
IGL01973:Pcdhb11 APN 18 37,556,565 (GRCm39) missense probably damaging 1.00
IGL01977:Pcdhb11 APN 18 37,555,344 (GRCm39) missense possibly damaging 0.49
IGL02164:Pcdhb11 APN 18 37,556,412 (GRCm39) missense probably benign 0.00
IGL02282:Pcdhb11 APN 18 37,556,881 (GRCm39) missense probably damaging 1.00
IGL02674:Pcdhb11 APN 18 37,556,667 (GRCm39) missense probably damaging 1.00
IGL02965:Pcdhb11 APN 18 37,557,021 (GRCm39) missense probably benign
IGL03197:Pcdhb11 APN 18 37,555,477 (GRCm39) nonsense probably null
1mM(1):Pcdhb11 UTSW 18 37,557,010 (GRCm39) missense probably benign 0.00
R0001:Pcdhb11 UTSW 18 37,557,042 (GRCm39) missense probably benign 0.06
R0383:Pcdhb11 UTSW 18 37,556,446 (GRCm39) missense probably damaging 1.00
R0421:Pcdhb11 UTSW 18 37,555,533 (GRCm39) missense probably benign 0.04
R0422:Pcdhb11 UTSW 18 37,554,923 (GRCm39) missense probably damaging 1.00
R0427:Pcdhb11 UTSW 18 37,555,818 (GRCm39) missense probably damaging 1.00
R0542:Pcdhb11 UTSW 18 37,556,887 (GRCm39) missense probably damaging 1.00
R0620:Pcdhb11 UTSW 18 37,554,864 (GRCm39) nonsense probably null
R1014:Pcdhb11 UTSW 18 37,556,422 (GRCm39) missense probably damaging 1.00
R1277:Pcdhb11 UTSW 18 37,554,769 (GRCm39) missense possibly damaging 0.79
R2034:Pcdhb11 UTSW 18 37,555,546 (GRCm39) missense probably benign 0.00
R2142:Pcdhb11 UTSW 18 37,555,176 (GRCm39) missense probably benign 0.28
R2496:Pcdhb11 UTSW 18 37,555,375 (GRCm39) missense probably benign 0.30
R3077:Pcdhb11 UTSW 18 37,555,297 (GRCm39) missense probably benign 0.08
R4560:Pcdhb11 UTSW 18 37,556,787 (GRCm39) missense possibly damaging 0.61
R4590:Pcdhb11 UTSW 18 37,555,549 (GRCm39) missense probably damaging 0.98
R4642:Pcdhb11 UTSW 18 37,555,021 (GRCm39) missense probably benign 0.01
R4729:Pcdhb11 UTSW 18 37,555,419 (GRCm39) nonsense probably null
R5012:Pcdhb11 UTSW 18 37,556,029 (GRCm39) missense possibly damaging 0.48
R5364:Pcdhb11 UTSW 18 37,555,232 (GRCm39) missense probably benign 0.06
R5910:Pcdhb11 UTSW 18 37,556,796 (GRCm39) missense probably benign 0.43
R6023:Pcdhb11 UTSW 18 37,555,978 (GRCm39) missense possibly damaging 0.94
R6254:Pcdhb11 UTSW 18 37,554,771 (GRCm39) missense probably damaging 0.99
R6276:Pcdhb11 UTSW 18 37,554,813 (GRCm39) missense probably benign 0.36
R6360:Pcdhb11 UTSW 18 37,555,212 (GRCm39) missense probably benign
R6699:Pcdhb11 UTSW 18 37,555,990 (GRCm39) missense probably damaging 1.00
R6732:Pcdhb11 UTSW 18 37,555,197 (GRCm39) missense probably benign
R6760:Pcdhb11 UTSW 18 37,554,637 (GRCm39) intron probably benign
R6916:Pcdhb11 UTSW 18 37,555,434 (GRCm39) missense possibly damaging 0.52
R7130:Pcdhb11 UTSW 18 37,556,559 (GRCm39) missense probably benign 0.04
R7267:Pcdhb11 UTSW 18 37,555,006 (GRCm39) missense possibly damaging 0.61
R7426:Pcdhb11 UTSW 18 37,556,313 (GRCm39) missense probably damaging 0.99
R7444:Pcdhb11 UTSW 18 37,555,672 (GRCm39) missense probably damaging 0.98
R7492:Pcdhb11 UTSW 18 37,556,497 (GRCm39) missense probably damaging 1.00
R7504:Pcdhb11 UTSW 18 37,554,852 (GRCm39) missense probably benign
R7537:Pcdhb11 UTSW 18 37,554,672 (GRCm39) start codon destroyed possibly damaging 0.88
R7728:Pcdhb11 UTSW 18 37,556,530 (GRCm39) missense probably damaging 1.00
R7817:Pcdhb11 UTSW 18 37,556,962 (GRCm39) missense probably damaging 1.00
R8071:Pcdhb11 UTSW 18 37,555,422 (GRCm39) missense probably benign 0.02
R8229:Pcdhb11 UTSW 18 37,555,671 (GRCm39) missense probably benign 0.00
R8254:Pcdhb11 UTSW 18 37,555,242 (GRCm39) missense probably benign 0.45
R8356:Pcdhb11 UTSW 18 37,555,252 (GRCm39) missense probably damaging 1.00
R8739:Pcdhb11 UTSW 18 37,555,549 (GRCm39) missense probably damaging 1.00
R8957:Pcdhb11 UTSW 18 37,555,872 (GRCm39) missense probably benign 0.09
R8957:Pcdhb11 UTSW 18 37,554,692 (GRCm39) missense probably benign 0.43
R8964:Pcdhb11 UTSW 18 37,556,660 (GRCm39) missense probably benign 0.00
R8966:Pcdhb11 UTSW 18 37,556,037 (GRCm39) missense possibly damaging 0.67
R9188:Pcdhb11 UTSW 18 37,556,188 (GRCm39) missense probably damaging 1.00
R9253:Pcdhb11 UTSW 18 37,554,529 (GRCm39) intron probably benign
R9632:Pcdhb11 UTSW 18 37,556,019 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCCTGAAACCCACGTTTGAG -3'
(R):5'- CAGGGATTCATAGTCCAGTGC -3'

Sequencing Primer
(F):5'- GAAACCCACGTTTGAGAATTACTAC -3'
(R):5'- GATTCATAGTCCAGTGCCCTGAG -3'
Posted On 2017-08-16