Incidental Mutation 'IGL02491:Pcdhb6'
ID295623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Nameprotocadherin beta 6
SynonymsPcdhb5B, PcdhbF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02491
Quality Score
Status
Chromosome18
Chromosomal Location37333921-37337674 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37335682 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 552 (D552V)
Ref Sequence ENSEMBL: ENSMUSP00000058592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]
Predicted Effect probably damaging
Transcript: ENSMUST00000061717
AA Change: D552V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: D552V

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 2.7e-33 PFAM
CA 155 240 1.48e-22 SMART
CA 264 344 3.02e-28 SMART
CA 367 448 1.69e-22 SMART
CA 472 558 1.65e-25 SMART
CA 588 669 6.24e-12 SMART
Pfam:Cadherin_C_2 685 768 4.7e-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
Predicted Effect probably benign
Transcript: ENSMUST00000194655
SMART Domains Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678

DomainStartEndE-ValueType
Blast:CA 1 60 2e-11 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,095 Y130H probably benign Het
Abca6 T C 11: 110,176,968 probably benign Het
Acacb T A 5: 114,192,105 I443N probably damaging Het
C1qtnf3 A T 15: 10,971,981 I118F possibly damaging Het
Carmil3 C T 14: 55,504,517 A1148V probably benign Het
Ccdc62 A T 5: 123,961,315 S677C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col11a2 C A 17: 34,064,207 probably benign Het
Cpsf7 A G 19: 10,539,637 I368V possibly damaging Het
Csmd2 T C 4: 128,534,257 S2934P probably benign Het
Csmd3 A G 15: 47,914,115 probably benign Het
Cubn A G 2: 13,321,228 Y2709H probably damaging Het
Cyp2d12 T A 15: 82,558,481 L375Q possibly damaging Het
Etv4 A T 11: 101,783,965 probably null Het
Exph5 T A 9: 53,375,043 D1141E possibly damaging Het
Fbxo16 T A 14: 65,321,287 H298Q probably benign Het
Fbxw21 T A 9: 109,143,819 Y349F probably benign Het
Foxs1 G A 2: 152,932,801 R111C probably damaging Het
Galnt15 T A 14: 32,056,316 L436Q probably damaging Het
Gbf1 T C 19: 46,262,540 probably benign Het
Gm8237 A T 14: 5,863,577 C29* probably null Het
Hcn1 A G 13: 117,810,040 D317G unknown Het
Itgam A G 7: 128,116,018 N877D possibly damaging Het
Kcnma1 T C 14: 23,311,689 R1047G probably damaging Het
Klhdc3 T C 17: 46,677,300 R180G possibly damaging Het
Lpcat2 T C 8: 92,874,251 V241A probably damaging Het
Mnat1 A G 12: 73,123,908 N24S probably null Het
Mprip A G 11: 59,770,031 T967A probably benign Het
Mtf1 T C 4: 124,838,579 F477L probably benign Het
Naaladl1 A G 19: 6,109,718 E393G possibly damaging Het
Olfr1328 A T 4: 118,934,161 L229H probably damaging Het
Olfr513 A G 7: 108,755,114 K86R probably damaging Het
Olfr521 A G 7: 99,767,333 E57G possibly damaging Het
Pglyrp3 C T 3: 92,014,637 S4F possibly damaging Het
Pramef12 A T 4: 144,394,752 M234K probably damaging Het
Prss27 A T 17: 24,044,255 probably benign Het
Slc5a9 A G 4: 111,896,352 S51P probably damaging Het
Slc6a4 A G 11: 77,027,208 Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 V417D probably damaging Het
Syne2 A G 12: 76,072,179 T5857A probably benign Het
Thap1 A C 8: 26,160,857 S52R probably damaging Het
Thsd4 T C 9: 60,000,018 N158S probably damaging Het
Tmem147 A T 7: 30,728,201 probably benign Het
Trdmt1 G A 2: 13,516,672 A311V probably benign Het
U2surp T A 9: 95,490,220 R296S probably damaging Het
Upf2 A G 2: 6,026,164 D805G unknown Het
Usp34 T A 11: 23,432,630 H2057Q probably damaging Het
Vmn2r110 T A 17: 20,596,138 D41V probably damaging Het
Vmn2r16 T A 5: 109,339,837 L192* probably null Het
Vnn3 T A 10: 23,865,918 S374T probably benign Het
Wdr62 A C 7: 30,242,759 D1089E probably benign Het
Xdh T A 17: 73,886,464 D1279V probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518b A G 5: 38,673,780 I294T possibly damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Pcdhb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Pcdhb6 APN 18 37334224 missense probably damaging 1.00
IGL02123:Pcdhb6 APN 18 37335820 missense probably damaging 1.00
IGL02496:Pcdhb6 APN 18 37335454 missense probably damaging 1.00
IGL02608:Pcdhb6 APN 18 37334694 missense probably damaging 0.99
IGL03130:Pcdhb6 APN 18 37335587 nonsense probably null
IGL03144:Pcdhb6 APN 18 37334406 missense probably damaging 1.00
IGL03189:Pcdhb6 APN 18 37336152 missense probably damaging 0.98
IGL03203:Pcdhb6 APN 18 37334532 missense possibly damaging 0.95
IGL03388:Pcdhb6 APN 18 37336137 missense probably damaging 0.99
PIT4445001:Pcdhb6 UTSW 18 37335247 missense possibly damaging 0.67
R0571:Pcdhb6 UTSW 18 37335114 missense probably benign 0.01
R0734:Pcdhb6 UTSW 18 37335334 missense probably damaging 0.99
R1727:Pcdhb6 UTSW 18 37334587 missense probably damaging 1.00
R2206:Pcdhb6 UTSW 18 37335580 missense probably benign 0.10
R2207:Pcdhb6 UTSW 18 37335580 missense probably benign 0.10
R2303:Pcdhb6 UTSW 18 37336231 missense probably damaging 1.00
R2401:Pcdhb6 UTSW 18 37335169 missense probably benign 0.35
R3409:Pcdhb6 UTSW 18 37335892 missense probably damaging 1.00
R3411:Pcdhb6 UTSW 18 37335892 missense probably damaging 1.00
R3625:Pcdhb6 UTSW 18 37336140 missense probably damaging 1.00
R3716:Pcdhb6 UTSW 18 37336206 missense probably benign 0.01
R4745:Pcdhb6 UTSW 18 37335373 missense possibly damaging 0.86
R4821:Pcdhb6 UTSW 18 37334328 missense probably damaging 1.00
R5218:Pcdhb6 UTSW 18 37334335 missense possibly damaging 0.95
R5465:Pcdhb6 UTSW 18 37334730 missense probably damaging 0.97
R5522:Pcdhb6 UTSW 18 37334349 missense probably benign
R5556:Pcdhb6 UTSW 18 37334389 missense probably damaging 1.00
R5703:Pcdhb6 UTSW 18 37334700 missense probably benign 0.15
R6154:Pcdhb6 UTSW 18 37334913 missense probably benign 0.00
R6256:Pcdhb6 UTSW 18 37335925 missense probably damaging 0.98
R6304:Pcdhb6 UTSW 18 37335921 nonsense probably null
R6528:Pcdhb6 UTSW 18 37334503 missense probably damaging 1.00
R6883:Pcdhb6 UTSW 18 37335145 missense probably damaging 1.00
R7045:Pcdhb6 UTSW 18 37336276 missense possibly damaging 0.88
R7307:Pcdhb6 UTSW 18 37335478 missense probably benign
R7313:Pcdhb6 UTSW 18 37335208 missense probably damaging 0.99
R7378:Pcdhb6 UTSW 18 37335172 missense probably damaging 1.00
R7555:Pcdhb6 UTSW 18 37335279 missense possibly damaging 0.60
R7606:Pcdhb6 UTSW 18 37335606 missense probably damaging 0.99
R7701:Pcdhb6 UTSW 18 37334509 missense probably damaging 1.00
Z1088:Pcdhb6 UTSW 18 37335146 missense probably damaging 1.00
Posted On2015-04-16