Incidental Mutation 'IGL02651:Pcdhb18'
ID 302129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb18
Ensembl Gene ENSMUSG00000048347
Gene Name protocadherin beta 18
Synonyms Pcdhb9, PcdhbR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # IGL02651
Quality Score
Status
Chromosome 18
Chromosomal Location 37622524-37627558 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 37624234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 521 (Y521*)
Ref Sequence ENSEMBL: ENSMUSP00000052113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y02
Predicted Effect probably benign
Transcript: ENSMUST00000053856
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387

DomainStartEndE-ValueType
Pfam:Cadherin_2 31 112 5.8e-35 PFAM
CA 155 240 2.42e-18 SMART
CA 264 345 8.03e-24 SMART
CA 368 449 5.81e-21 SMART
CA 473 559 8.15e-25 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 770 1.8e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000055949
AA Change: Y521*
SMART Domains Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: Y521*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Cadherin_2 30 112 3.1e-34 PFAM
CA 155 240 7.97e-19 SMART
CA 264 345 6.27e-26 SMART
CA 368 449 2.63e-19 SMART
CA 473 559 7.09e-25 SMART
CA 589 670 2.87e-11 SMART
Pfam:Cadherin_C_2 687 771 7.9e-27 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in Pcdhb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Pcdhb18 APN 18 37,624,984 (GRCm39) missense probably benign 0.35
IGL02721:Pcdhb18 APN 18 37,623,084 (GRCm39) missense probably benign 0.33
IGL02945:Pcdhb18 APN 18 37,623,048 (GRCm39) missense probably benign 0.34
IGL03030:Pcdhb18 APN 18 37,623,786 (GRCm39) missense probably damaging 1.00
IGL03346:Pcdhb18 APN 18 37,622,674 (GRCm39) start codon destroyed probably null 0.99
R0206:Pcdhb18 UTSW 18 37,623,240 (GRCm39) missense possibly damaging 0.80
R0208:Pcdhb18 UTSW 18 37,623,240 (GRCm39) missense possibly damaging 0.80
R0680:Pcdhb18 UTSW 18 37,623,347 (GRCm39) missense probably damaging 0.98
R1517:Pcdhb18 UTSW 18 37,622,673 (GRCm39) start codon destroyed probably null 1.00
R1519:Pcdhb18 UTSW 18 37,623,945 (GRCm39) missense probably damaging 1.00
R1597:Pcdhb18 UTSW 18 37,624,820 (GRCm39) missense probably benign 0.19
R1735:Pcdhb18 UTSW 18 37,623,822 (GRCm39) missense probably benign 0.00
R2089:Pcdhb18 UTSW 18 37,623,653 (GRCm39) missense probably damaging 0.99
R2091:Pcdhb18 UTSW 18 37,623,653 (GRCm39) missense probably damaging 0.99
R2091:Pcdhb18 UTSW 18 37,623,653 (GRCm39) missense probably damaging 0.99
R2206:Pcdhb18 UTSW 18 37,624,342 (GRCm39) missense probably damaging 0.99
R2207:Pcdhb18 UTSW 18 37,624,342 (GRCm39) missense probably damaging 0.99
R4773:Pcdhb18 UTSW 18 37,623,507 (GRCm39) missense probably damaging 1.00
R4837:Pcdhb18 UTSW 18 37,622,867 (GRCm39) missense probably damaging 1.00
R5271:Pcdhb18 UTSW 18 37,624,649 (GRCm39) missense possibly damaging 0.94
R5568:Pcdhb18 UTSW 18 37,624,853 (GRCm39) missense probably benign 0.44
R5647:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5648:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5690:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5692:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5812:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5813:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5928:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5929:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R5930:Pcdhb18 UTSW 18 37,624,988 (GRCm39) missense possibly damaging 0.63
R6209:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R6255:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.05
R6602:Pcdhb18 UTSW 18 37,623,533 (GRCm39) missense probably damaging 0.99
R6699:Pcdhb18 UTSW 18 37,625,005 (GRCm39) missense probably benign 0.00
R7055:Pcdhb18 UTSW 18 37,623,864 (GRCm39) missense possibly damaging 0.64
R7197:Pcdhb18 UTSW 18 37,623,436 (GRCm39) missense probably benign 0.06
R7289:Pcdhb18 UTSW 18 37,623,700 (GRCm39) missense probably damaging 1.00
R7345:Pcdhb18 UTSW 18 37,624,976 (GRCm39) missense probably benign 0.19
R7403:Pcdhb18 UTSW 18 37,624,950 (GRCm39) missense probably benign 0.09
R7541:Pcdhb18 UTSW 18 37,624,662 (GRCm39) missense probably damaging 1.00
R7651:Pcdhb18 UTSW 18 37,624,046 (GRCm39) missense probably benign 0.00
R7670:Pcdhb18 UTSW 18 37,624,749 (GRCm39) missense probably damaging 1.00
R7673:Pcdhb18 UTSW 18 37,624,790 (GRCm39) missense probably benign 0.39
R7783:Pcdhb18 UTSW 18 37,622,874 (GRCm39) missense probably benign 0.01
R7819:Pcdhb18 UTSW 18 37,624,308 (GRCm39) missense possibly damaging 0.60
R7826:Pcdhb18 UTSW 18 37,623,995 (GRCm39) missense probably damaging 0.98
R7857:Pcdhb18 UTSW 18 37,624,364 (GRCm39) missense probably benign
R7866:Pcdhb18 UTSW 18 37,623,512 (GRCm39) missense probably damaging 0.99
R7895:Pcdhb18 UTSW 18 37,623,520 (GRCm39) missense probably benign 0.27
R8773:Pcdhb18 UTSW 18 37,624,562 (GRCm39) missense probably damaging 1.00
R8810:Pcdhb18 UTSW 18 37,623,374 (GRCm39) missense probably benign 0.00
R8891:Pcdhb18 UTSW 18 37,623,700 (GRCm39) missense probably damaging 1.00
R8938:Pcdhb18 UTSW 18 37,623,537 (GRCm39) missense probably benign 0.00
R9303:Pcdhb18 UTSW 18 37,625,004 (GRCm39) missense probably benign
R9305:Pcdhb18 UTSW 18 37,625,004 (GRCm39) missense probably benign
R9525:Pcdhb18 UTSW 18 37,624,887 (GRCm39) missense probably damaging 1.00
R9608:Pcdhb18 UTSW 18 37,623,694 (GRCm39) missense probably damaging 1.00
R9696:Pcdhb18 UTSW 18 37,623,606 (GRCm39) missense possibly damaging 0.94
X0022:Pcdhb18 UTSW 18 37,623,326 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16