Incidental Mutation 'R0421:Pcdhb11'
ID 37093
Institutional Source Beutler Lab
Gene Symbol Pcdhb11
Ensembl Gene ENSMUSG00000051486
Gene Name protocadherin beta 11
Synonyms PcdhbK, Pcdhb5E
MMRRC Submission 038623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0421 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37554471-37558085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37555533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 288 (S288T)
Ref Sequence ENSEMBL: ENSMUSP00000056148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91UZ8
Predicted Effect probably benign
Transcript: ENSMUST00000053073
AA Change: S288T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: S288T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
R6106:Pcdhb11 UTSW 18 37,556,056 (GRCm39) missense probably damaging 1.00
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'- CCGTTCAGAACTACACAGTCAGTCC -3'
(R):5'- GCGTTGTCATTCACATCCAACACC -3'

Sequencing Primer
(F):5'- ATTACTCACAGTCGCTCAGATGG -3'
(R):5'- TCCAACACCTGTATAACCACAGTG -3'
Posted On 2013-05-09