Incidental Mutation 'IGL00906:Pcdhb11'
ID 29400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb11
Ensembl Gene ENSMUSG00000051486
Gene Name protocadherin beta 11
Synonyms Pcdhb5E, PcdhbK
Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL00906
Quality Score
Status
Chromosome 18
Chromosomal Location 37421418-37425836 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37422121 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 168 (Q168L)
Ref Sequence ENSEMBL: ENSMUSP00000056148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91UZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000053073
AA Change: Q168L

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: Q168L

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,503,274 E221G probably benign Het
Alb A G 5: 90,472,073 N453S probably benign Het
Bckdha C T 7: 25,633,342 V183M probably benign Het
Brpf3 A G 17: 28,836,700 probably benign Het
Ccdc163 T C 4: 116,710,290 probably null Het
Ccdc178 A T 18: 22,135,168 C87* probably null Het
Clca4a A G 3: 144,954,939 V708A probably damaging Het
Cyfip2 A G 11: 46,200,685 V1136A possibly damaging Het
Dnah11 A C 12: 117,911,202 L3976R probably damaging Het
Erich1 A G 8: 14,033,770 probably benign Het
Fam228a A T 12: 4,732,773 Y107N possibly damaging Het
Gm4788 A T 1: 139,731,574 V739E probably damaging Het
Iars2 A T 1: 185,296,403 probably benign Het
Ifi204 A G 1: 173,759,631 probably benign Het
Ifih1 A T 2: 62,645,824 I36N probably benign Het
Jak1 C T 4: 101,154,629 G1092D probably damaging Het
Kir3dl2 G A X: 136,456,348 P122S probably damaging Het
Nacc2 T C 2: 26,061,666 T386A probably damaging Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr641 G A 7: 104,039,844 G16D probably damaging Het
Olfr727 A G 14: 50,126,757 Y60C probably damaging Het
Pcca A C 14: 122,690,133 D436A probably benign Het
Pdgfra A G 5: 75,180,173 I598V probably benign Het
Pla2g6 C T 15: 79,287,747 V637I probably damaging Het
Plac1 A C X: 53,070,716 V39G probably damaging Het
Pparg A G 6: 115,439,861 E5G probably damaging Het
Ppp1r9a A G 6: 5,157,023 D967G possibly damaging Het
Rel T C 11: 23,744,266 T322A probably benign Het
Sgk3 A G 1: 9,877,245 T137A probably benign Het
Sgpp2 A G 1: 78,390,547 R106G probably benign Het
Slc27a5 T A 7: 12,991,057 M459L probably benign Het
Snx21 T C 2: 164,786,220 L52P probably damaging Het
Srarp G A 4: 141,433,273 T83M probably benign Het
Sstr2 A G 11: 113,624,995 R247G probably benign Het
Tnpo3 G A 6: 29,589,048 S101L probably damaging Het
Zan A G 5: 137,389,360 I4863T unknown Het
Other mutations in Pcdhb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Pcdhb11 APN 18 37421973 missense probably benign 0.00
IGL01610:Pcdhb11 APN 18 37423359 missense probably benign 0.00
IGL01973:Pcdhb11 APN 18 37423512 missense probably damaging 1.00
IGL01977:Pcdhb11 APN 18 37422291 missense possibly damaging 0.49
IGL02164:Pcdhb11 APN 18 37423359 missense probably benign 0.00
IGL02282:Pcdhb11 APN 18 37423828 missense probably damaging 1.00
IGL02674:Pcdhb11 APN 18 37423614 missense probably damaging 1.00
IGL02965:Pcdhb11 APN 18 37423968 missense probably benign
IGL03197:Pcdhb11 APN 18 37422424 nonsense probably null
1mM(1):Pcdhb11 UTSW 18 37423957 missense probably benign 0.00
R0001:Pcdhb11 UTSW 18 37423989 missense probably benign 0.06
R0383:Pcdhb11 UTSW 18 37423393 missense probably damaging 1.00
R0421:Pcdhb11 UTSW 18 37422480 missense probably benign 0.04
R0422:Pcdhb11 UTSW 18 37421870 missense probably damaging 1.00
R0427:Pcdhb11 UTSW 18 37422765 missense probably damaging 1.00
R0542:Pcdhb11 UTSW 18 37423834 missense probably damaging 1.00
R0620:Pcdhb11 UTSW 18 37421811 nonsense probably null
R1014:Pcdhb11 UTSW 18 37423369 missense probably damaging 1.00
R1277:Pcdhb11 UTSW 18 37421716 missense possibly damaging 0.79
R2034:Pcdhb11 UTSW 18 37422493 missense probably benign 0.00
R2142:Pcdhb11 UTSW 18 37422123 missense probably benign 0.28
R2496:Pcdhb11 UTSW 18 37422322 missense probably benign 0.30
R3077:Pcdhb11 UTSW 18 37422244 missense probably benign 0.08
R4560:Pcdhb11 UTSW 18 37423734 missense possibly damaging 0.61
R4590:Pcdhb11 UTSW 18 37422496 missense probably damaging 0.98
R4642:Pcdhb11 UTSW 18 37421968 missense probably benign 0.01
R4729:Pcdhb11 UTSW 18 37422366 nonsense probably null
R5012:Pcdhb11 UTSW 18 37422976 missense possibly damaging 0.48
R5364:Pcdhb11 UTSW 18 37422179 missense probably benign 0.06
R5910:Pcdhb11 UTSW 18 37423743 missense probably benign 0.43
R6023:Pcdhb11 UTSW 18 37422925 missense possibly damaging 0.94
R6106:Pcdhb11 UTSW 18 37423003 missense probably damaging 1.00
R6254:Pcdhb11 UTSW 18 37421718 missense probably damaging 0.99
R6276:Pcdhb11 UTSW 18 37421760 missense probably benign 0.36
R6360:Pcdhb11 UTSW 18 37422159 missense probably benign
R6699:Pcdhb11 UTSW 18 37422937 missense probably damaging 1.00
R6732:Pcdhb11 UTSW 18 37422144 missense probably benign
R6760:Pcdhb11 UTSW 18 37421584 intron probably benign
R6916:Pcdhb11 UTSW 18 37422381 missense possibly damaging 0.52
R7130:Pcdhb11 UTSW 18 37423506 missense probably benign 0.04
R7267:Pcdhb11 UTSW 18 37421953 missense possibly damaging 0.61
R7426:Pcdhb11 UTSW 18 37423260 missense probably damaging 0.99
R7444:Pcdhb11 UTSW 18 37422619 missense probably damaging 0.98
R7492:Pcdhb11 UTSW 18 37423444 missense probably damaging 1.00
R7504:Pcdhb11 UTSW 18 37421799 missense probably benign
R7537:Pcdhb11 UTSW 18 37421619 start codon destroyed possibly damaging 0.88
R7728:Pcdhb11 UTSW 18 37423477 missense probably damaging 1.00
R7817:Pcdhb11 UTSW 18 37423909 missense probably damaging 1.00
R8071:Pcdhb11 UTSW 18 37422369 missense probably benign 0.02
R8229:Pcdhb11 UTSW 18 37422618 missense probably benign 0.00
R8254:Pcdhb11 UTSW 18 37422189 missense probably benign 0.45
R8356:Pcdhb11 UTSW 18 37422199 missense probably damaging 1.00
R8739:Pcdhb11 UTSW 18 37422496 missense probably damaging 1.00
R8957:Pcdhb11 UTSW 18 37421639 missense probably benign 0.43
R8957:Pcdhb11 UTSW 18 37422819 missense probably benign 0.09
R8964:Pcdhb11 UTSW 18 37423607 missense probably benign 0.00
R8966:Pcdhb11 UTSW 18 37422984 missense possibly damaging 0.67
R9188:Pcdhb11 UTSW 18 37423135 missense probably damaging 1.00
R9253:Pcdhb11 UTSW 18 37421476 intron probably benign
R9632:Pcdhb11 UTSW 18 37422966 missense probably damaging 1.00
Posted On 2013-04-17