Incidental Mutation 'R6883:Pcdhb6'
ID 536920
Institutional Source Beutler Lab
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Name protocadherin beta 6
Synonyms Pcdhb5B, PcdhbF
MMRRC Submission 044978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6883 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37466913-37470491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37468198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 373 (D373V)
Ref Sequence ENSEMBL: ENSMUSP00000058592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]
AlphaFold Q91XZ4
Predicted Effect probably damaging
Transcript: ENSMUST00000061717
AA Change: D373V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: D373V

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
Meta Mutation Damage Score 0.8265 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 92% (45/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A G 9: 118,985,728 (GRCm39) S66P possibly damaging Het
Adh7 A T 3: 137,929,825 (GRCm39) E167V probably damaging Het
Ano6 T C 15: 95,859,992 (GRCm39) S705P probably damaging Het
Arpc1b T C 5: 145,063,739 (GRCm39) V329A probably benign Het
Btla C T 16: 45,063,092 (GRCm39) H152Y probably benign Het
Cadps T C 14: 12,465,883 (GRCm38) E1009G probably damaging Het
Cttnbp2nl A G 3: 104,918,507 (GRCm39) probably null Het
Cyp4a12a G T 4: 115,159,221 (GRCm39) V164F probably damaging Het
Duox1 G T 2: 122,155,065 (GRCm39) probably null Het
Fcgbpl1 A T 7: 27,852,260 (GRCm39) H1261L possibly damaging Het
Fmo6 A G 1: 162,757,461 (GRCm39) I104T probably damaging Het
Fnbp4 T C 2: 90,576,172 (GRCm39) probably null Het
Garem1 T C 18: 21,262,769 (GRCm39) T682A probably benign Het
Gm49358 A G 10: 86,651,762 (GRCm39) E188G probably benign Het
Gm5773 T C 3: 93,681,162 (GRCm39) I278T probably benign Het
Ifi27l2a A G 12: 103,409,756 (GRCm39) probably benign Het
Inpp5d A C 1: 87,627,412 (GRCm39) K308T probably damaging Het
Irf6 A T 1: 192,849,774 (GRCm39) Y232F probably damaging Het
Kcnmb4 T C 10: 116,309,248 (GRCm39) Q60R probably benign Het
Klri2 T C 6: 129,709,985 (GRCm39) D205G probably benign Het
Mcm9 A T 10: 53,492,110 (GRCm39) W352R probably damaging Het
Nat8 A G 6: 85,807,650 (GRCm39) V161A possibly damaging Het
Nlrp9c A T 7: 26,077,556 (GRCm39) M742K probably benign Het
Or10ag58 C A 2: 87,265,623 (GRCm39) T264K probably damaging Het
Or13j1 T C 4: 43,705,723 (GRCm39) T282A possibly damaging Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Pcdha11 A T 18: 37,144,242 (GRCm39) D111V probably damaging Het
Pcolce2 A T 9: 95,560,396 (GRCm39) probably null Het
Pik3cb T C 9: 98,983,453 (GRCm39) M52V probably benign Het
Pipox T C 11: 77,774,729 (GRCm39) E118G probably benign Het
Pou4f2 T C 8: 79,162,307 (GRCm39) S99G probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Sim2 G T 16: 93,926,395 (GRCm39) A540S probably benign Het
Smg1 A T 7: 117,767,403 (GRCm39) probably benign Het
Sntb1 A G 15: 55,769,719 (GRCm39) V90A probably benign Het
Spns2 T C 11: 72,347,196 (GRCm39) probably null Het
Syne1 G T 10: 5,181,704 (GRCm39) C4210* probably null Het
Tek T C 4: 94,725,426 (GRCm39) I564T possibly damaging Het
Tmem94 T G 11: 115,687,287 (GRCm39) C1135W probably damaging Het
Tnxb T A 17: 34,937,493 (GRCm39) D3827E probably damaging Het
Ttl A G 2: 128,923,992 (GRCm39) D235G possibly damaging Het
Tuba4a A G 1: 75,194,066 (GRCm39) S5P probably damaging Het
Uaca T A 9: 60,777,173 (GRCm39) V518D probably damaging Het
Unc80 A T 1: 66,685,563 (GRCm39) Q2229L probably benign Het
Unkl C T 17: 25,449,307 (GRCm39) A78V probably damaging Het
Uroc1 C T 6: 90,315,574 (GRCm39) Q152* probably null Het
Vmn2r51 G T 7: 9,834,025 (GRCm39) Q338K possibly damaging Het
Vps50 C T 6: 3,498,513 (GRCm39) probably benign Het
Other mutations in Pcdhb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Pcdhb6 APN 18 37,467,277 (GRCm39) missense probably damaging 1.00
IGL02123:Pcdhb6 APN 18 37,468,873 (GRCm39) missense probably damaging 1.00
IGL02491:Pcdhb6 APN 18 37,468,735 (GRCm39) missense probably damaging 1.00
IGL02496:Pcdhb6 APN 18 37,468,507 (GRCm39) missense probably damaging 1.00
IGL02608:Pcdhb6 APN 18 37,467,747 (GRCm39) missense probably damaging 0.99
IGL03130:Pcdhb6 APN 18 37,468,640 (GRCm39) nonsense probably null
IGL03144:Pcdhb6 APN 18 37,467,459 (GRCm39) missense probably damaging 1.00
IGL03189:Pcdhb6 APN 18 37,469,205 (GRCm39) missense probably damaging 0.98
IGL03203:Pcdhb6 APN 18 37,467,585 (GRCm39) missense possibly damaging 0.95
IGL03388:Pcdhb6 APN 18 37,469,190 (GRCm39) missense probably damaging 0.99
PIT4445001:Pcdhb6 UTSW 18 37,468,300 (GRCm39) missense possibly damaging 0.67
R0571:Pcdhb6 UTSW 18 37,468,167 (GRCm39) missense probably benign 0.01
R0734:Pcdhb6 UTSW 18 37,468,387 (GRCm39) missense probably damaging 0.99
R1727:Pcdhb6 UTSW 18 37,467,640 (GRCm39) missense probably damaging 1.00
R2206:Pcdhb6 UTSW 18 37,468,633 (GRCm39) missense probably benign 0.10
R2207:Pcdhb6 UTSW 18 37,468,633 (GRCm39) missense probably benign 0.10
R2303:Pcdhb6 UTSW 18 37,469,284 (GRCm39) missense probably damaging 1.00
R2401:Pcdhb6 UTSW 18 37,468,222 (GRCm39) missense probably benign 0.35
R3409:Pcdhb6 UTSW 18 37,468,945 (GRCm39) missense probably damaging 1.00
R3411:Pcdhb6 UTSW 18 37,468,945 (GRCm39) missense probably damaging 1.00
R3625:Pcdhb6 UTSW 18 37,469,193 (GRCm39) missense probably damaging 1.00
R3716:Pcdhb6 UTSW 18 37,469,259 (GRCm39) missense probably benign 0.01
R4745:Pcdhb6 UTSW 18 37,468,426 (GRCm39) missense possibly damaging 0.86
R4821:Pcdhb6 UTSW 18 37,467,381 (GRCm39) missense probably damaging 1.00
R5218:Pcdhb6 UTSW 18 37,467,388 (GRCm39) missense possibly damaging 0.95
R5465:Pcdhb6 UTSW 18 37,467,783 (GRCm39) missense probably damaging 0.97
R5522:Pcdhb6 UTSW 18 37,467,402 (GRCm39) missense probably benign
R5556:Pcdhb6 UTSW 18 37,467,442 (GRCm39) missense probably damaging 1.00
R5703:Pcdhb6 UTSW 18 37,467,753 (GRCm39) missense probably benign 0.15
R6154:Pcdhb6 UTSW 18 37,467,966 (GRCm39) missense probably benign 0.00
R6256:Pcdhb6 UTSW 18 37,468,978 (GRCm39) missense probably damaging 0.98
R6304:Pcdhb6 UTSW 18 37,468,974 (GRCm39) nonsense probably null
R6528:Pcdhb6 UTSW 18 37,467,556 (GRCm39) missense probably damaging 1.00
R7045:Pcdhb6 UTSW 18 37,469,329 (GRCm39) missense possibly damaging 0.88
R7307:Pcdhb6 UTSW 18 37,468,531 (GRCm39) missense probably benign
R7313:Pcdhb6 UTSW 18 37,468,261 (GRCm39) missense probably damaging 0.99
R7378:Pcdhb6 UTSW 18 37,468,225 (GRCm39) missense probably damaging 1.00
R7555:Pcdhb6 UTSW 18 37,468,332 (GRCm39) missense possibly damaging 0.60
R7606:Pcdhb6 UTSW 18 37,468,659 (GRCm39) missense probably damaging 0.99
R7701:Pcdhb6 UTSW 18 37,467,562 (GRCm39) missense probably damaging 1.00
R7830:Pcdhb6 UTSW 18 37,469,365 (GRCm39) missense probably benign 0.05
R7905:Pcdhb6 UTSW 18 37,467,607 (GRCm39) missense probably benign 0.00
R7982:Pcdhb6 UTSW 18 37,467,273 (GRCm39) nonsense probably null
R8818:Pcdhb6 UTSW 18 37,468,837 (GRCm39) missense probably benign 0.06
R8917:Pcdhb6 UTSW 18 37,468,431 (GRCm39) missense possibly damaging 0.92
R9397:Pcdhb6 UTSW 18 37,469,353 (GRCm39) missense probably benign 0.00
Z1088:Pcdhb6 UTSW 18 37,468,199 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATGGAAATTGTAGCCACAG -3'
(R):5'- AGGCAGGGGCATTGTCATTG -3'

Sequencing Primer
(F):5'- CACAGACAGTGGTGGTCTTTCAG -3'
(R):5'- GGGCATTGTCATTGATGTCCACC -3'
Posted On 2018-10-18