Incidental Mutation 'IGL01808:Pcdhb4'
ID 155725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb4
Ensembl Gene ENSMUSG00000045689
Gene Name protocadherin beta 4
Synonyms PcdhbD, Pcdhb5A
Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01808
Quality Score
Status
Chromosome 18
Chromosomal Location 37307455-37311172 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37309014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 459 (V459A)
Ref Sequence ENSEMBL: ENSMUSP00000059770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ6
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: ENSMUST00000056712
AA Change: V459A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V459A

DomainStartEndE-ValueType
CA 54 131 1.66e0 SMART
CA 155 240 1.07e-19 SMART
CA 264 344 6.03e-28 SMART
CA 367 448 2.57e-22 SMART
CA 472 558 3.36e-26 SMART
CA 588 669 3.48e-10 SMART
Pfam:Cadherin_C_2 685 768 1e-25 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 noncoding transcript
Transcript: ENSMUST00000193025
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ager A T 17: 34,599,457 Q266L probably damaging Het
Amz1 A G 5: 140,741,279 probably benign Het
Ebf2 C T 14: 67,414,483 A488V probably benign Het
Gm5885 A T 6: 133,531,218 noncoding transcript Het
Gnas T C 2: 174,298,697 S220P probably damaging Het
Gpr171 G A 3: 59,098,151 P68S probably damaging Het
H2afx T C 9: 44,334,949 I63T possibly damaging Het
H2-M9 A T 17: 36,641,819 probably null Het
Igsf9 T C 1: 172,484,803 V27A probably benign Het
Kcnh6 G T 11: 106,023,927 probably benign Het
Mapkbp1 A G 2: 120,023,169 probably null Het
Mllt6 C A 11: 97,672,484 H298N possibly damaging Het
Mtmr3 A G 11: 4,497,404 I352T probably damaging Het
Mtrr T C 13: 68,566,093 D509G probably benign Het
Ncan C T 8: 70,107,440 probably null Het
Olfr612 T A 7: 103,538,574 Y220F probably damaging Het
Phrf1 C A 7: 141,260,966 P1274Q probably damaging Het
Slc4a2 T C 5: 24,440,207 L1125P probably damaging Het
Synpo T C 18: 60,602,208 I650V probably benign Het
Tsc1 G A 2: 28,662,507 R86H probably damaging Het
Ugt2a3 A G 5: 87,325,555 V501A probably benign Het
Vmn1r203 T C 13: 22,524,547 I166T probably benign Het
Vps13a A G 19: 16,710,286 C933R probably damaging Het
Zfp142 A T 1: 74,576,025 F342Y probably damaging Het
Other mutations in Pcdhb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Pcdhb4 APN 18 37309916 missense possibly damaging 0.68
IGL01319:Pcdhb4 APN 18 37308513 missense probably benign
IGL01325:Pcdhb4 APN 18 37309623 missense probably damaging 1.00
IGL01608:Pcdhb4 APN 18 37308750 missense probably damaging 1.00
IGL01962:Pcdhb4 APN 18 37309004 missense possibly damaging 0.90
IGL02280:Pcdhb4 APN 18 37307682 missense probably benign 0.00
IGL02622:Pcdhb4 APN 18 37309668 missense probably benign 0.00
IGL03025:Pcdhb4 APN 18 37309977 missense possibly damaging 0.62
IGL03137:Pcdhb4 APN 18 37308516 missense probably damaging 0.98
P0031:Pcdhb4 UTSW 18 37308885 missense probably damaging 1.00
R0385:Pcdhb4 UTSW 18 37309215 missense probably damaging 1.00
R0611:Pcdhb4 UTSW 18 37308210 missense probably damaging 1.00
R0671:Pcdhb4 UTSW 18 37307742 missense probably benign 0.01
R0738:Pcdhb4 UTSW 18 37308711 missense probably damaging 1.00
R0853:Pcdhb4 UTSW 18 37309885 nonsense probably null
R0893:Pcdhb4 UTSW 18 37309370 splice site probably null
R1932:Pcdhb4 UTSW 18 37309541 missense probably benign 0.33
R1945:Pcdhb4 UTSW 18 37308868 missense probably damaging 1.00
R2194:Pcdhb4 UTSW 18 37308735 missense probably damaging 1.00
R2273:Pcdhb4 UTSW 18 37308926 missense probably damaging 1.00
R3807:Pcdhb4 UTSW 18 37309314 missense probably damaging 0.98
R3815:Pcdhb4 UTSW 18 37308012 missense probably damaging 1.00
R3816:Pcdhb4 UTSW 18 37308012 missense probably damaging 1.00
R3974:Pcdhb4 UTSW 18 37308848 missense possibly damaging 0.55
R4558:Pcdhb4 UTSW 18 37309964 missense probably benign
R4606:Pcdhb4 UTSW 18 37308652 missense probably damaging 1.00
R4615:Pcdhb4 UTSW 18 37308500 missense probably benign 0.02
R4840:Pcdhb4 UTSW 18 37308399 missense possibly damaging 0.60
R5240:Pcdhb4 UTSW 18 37309926 missense possibly damaging 0.78
R5272:Pcdhb4 UTSW 18 37307766 missense probably benign 0.04
R5586:Pcdhb4 UTSW 18 37308981 missense probably damaging 1.00
R5683:Pcdhb4 UTSW 18 37308989 missense probably benign 0.45
R5917:Pcdhb4 UTSW 18 37309566 missense probably damaging 1.00
R6110:Pcdhb4 UTSW 18 37308429 missense possibly damaging 0.80
R6383:Pcdhb4 UTSW 18 37308021 missense probably damaging 1.00
R6877:Pcdhb4 UTSW 18 37309572 missense probably damaging 1.00
R7036:Pcdhb4 UTSW 18 37308782 missense possibly damaging 0.95
R7204:Pcdhb4 UTSW 18 37309239 missense probably damaging 1.00
R7271:Pcdhb4 UTSW 18 37308169 missense possibly damaging 0.89
R7436:Pcdhb4 UTSW 18 37309275 missense probably damaging 1.00
R7444:Pcdhb4 UTSW 18 37309452 missense probably damaging 1.00
R7614:Pcdhb4 UTSW 18 37309549 missense probably benign 0.40
R7650:Pcdhb4 UTSW 18 37309614 missense probably damaging 1.00
R7664:Pcdhb4 UTSW 18 37309240 missense probably damaging 1.00
R8080:Pcdhb4 UTSW 18 37309296 missense probably benign 0.42
R8087:Pcdhb4 UTSW 18 37308664 missense probably damaging 1.00
R8115:Pcdhb4 UTSW 18 37309400 missense probably damaging 0.99
R8697:Pcdhb4 UTSW 18 37308779 missense probably benign 0.15
R8815:Pcdhb4 UTSW 18 37309002 missense probably damaging 1.00
R9008:Pcdhb4 UTSW 18 37307661 missense probably benign
R9225:Pcdhb4 UTSW 18 37308642 missense possibly damaging 0.68
R9278:Pcdhb4 UTSW 18 37308872 missense possibly damaging 0.61
R9299:Pcdhb4 UTSW 18 37309211 missense probably benign 0.02
R9390:Pcdhb4 UTSW 18 37309728 missense possibly damaging 0.80
R9582:Pcdhb4 UTSW 18 37308364 missense probably damaging 1.00
R9686:Pcdhb4 UTSW 18 37309890 missense probably damaging 0.98
R9721:Pcdhb4 UTSW 18 37309852 missense possibly damaging 0.70
Z1177:Pcdhb4 UTSW 18 37309913 missense probably benign 0.02
Posted On 2014-02-04