Incidental Mutation 'R7045:Pcdhb6'
ID 547283
Institutional Source Beutler Lab
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Name protocadherin beta 6
Synonyms Pcdhb5B, PcdhbF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37466913-37470491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37469329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 750 (Q750P)
Ref Sequence ENSEMBL: ENSMUSP00000058592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]
AlphaFold Q91XZ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061717
AA Change: Q750P

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: Q750P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 A T 12: 112,628,735 (GRCm39) Y18* probably null Het
Ank2 C A 3: 126,806,393 (GRCm39) A583S probably damaging Het
Aoc1l3 T C 6: 48,965,546 (GRCm39) V518A possibly damaging Het
Atp8b4 T C 2: 126,214,115 (GRCm39) N706S probably benign Het
Bace2 A G 16: 97,200,865 (GRCm39) N111S probably damaging Het
Cnp A T 11: 100,471,184 (GRCm39) R275S probably benign Het
Cs T A 10: 128,188,586 (GRCm39) M104K probably benign Het
Ctcfl G A 2: 172,954,167 (GRCm39) T310I probably damaging Het
Cyp2d40 T C 15: 82,645,763 (GRCm39) I81V probably benign Het
Ddx19a A G 8: 111,719,706 (GRCm39) V30A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dock6 G A 9: 21,733,107 (GRCm39) A1062V probably damaging Het
Dpysl2 T C 14: 67,067,395 (GRCm39) D172G probably benign Het
Eml2 A G 7: 18,935,504 (GRCm39) D638G probably damaging Het
Epb41l4b C A 4: 57,103,522 (GRCm39) A105S possibly damaging Het
Fat4 A G 3: 38,942,750 (GRCm39) I548V probably benign Het
Gabrb2 G A 11: 42,484,758 (GRCm39) A272T probably damaging Het
Gask1a T C 9: 121,794,707 (GRCm39) L287P probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hk1 C A 10: 62,122,349 (GRCm39) G477C probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kiss1r A G 10: 79,755,259 (GRCm39) probably null Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Loxl4 G T 19: 42,595,074 (GRCm39) N200K probably damaging Het
Lrba T C 3: 86,192,398 (GRCm39) V104A probably benign Het
Lyst T A 13: 13,809,485 (GRCm39) V385D probably benign Het
Lyst T A 13: 13,812,293 (GRCm39) C902S probably damaging Het
Mrpl28 T C 17: 26,345,261 (GRCm39) F227S probably benign Het
Mtmr3 A T 11: 4,448,896 (GRCm39) V289E possibly damaging Het
Ndst3 A G 3: 123,465,732 (GRCm39) V80A probably damaging Het
Nid2 C T 14: 19,829,749 (GRCm39) A680V possibly damaging Het
Nudcd1 T C 15: 44,269,226 (GRCm39) N145D probably benign Het
Nup210 A T 6: 91,031,433 (GRCm39) I812N probably damaging Het
Or2ak6 A T 11: 58,592,495 (GRCm39) probably benign Het
Or2g7 C T 17: 38,378,862 (GRCm39) H267Y probably benign Het
Or2y17 A T 11: 49,231,757 (GRCm39) T133S probably damaging Het
Or52n4b A G 7: 108,144,452 (GRCm39) K238R probably damaging Het
Or5b114-ps1 C A 19: 13,352,336 (GRCm39) N3K probably damaging Het
Or8c11 T A 9: 38,289,729 (GRCm39) M184K probably damaging Het
Or8k16 A G 2: 85,520,255 (GRCm39) S161G possibly damaging Het
Plppr4 T C 3: 117,153,683 (GRCm39) Y72C probably damaging Het
Rasgrf2 G T 13: 92,159,100 (GRCm39) probably benign Het
Sbk2 A G 7: 4,961,905 (GRCm39) I127T probably damaging Het
Smchd1 A C 17: 71,722,039 (GRCm39) S817A probably benign Het
Speer4b A T 5: 27,705,123 (GRCm39) N83K probably damaging Het
Strc A T 2: 121,201,207 (GRCm39) L1296Q probably damaging Het
Thap11 C A 8: 106,582,215 (GRCm39) R75S possibly damaging Het
Unc13a A C 8: 72,111,407 (GRCm39) L268R possibly damaging Het
Zfp39 A T 11: 58,781,269 (GRCm39) C498S unknown Het
Zfp507 T C 7: 35,494,978 (GRCm39) T22A possibly damaging Het
Zfp85 T C 13: 67,897,712 (GRCm39) Y120C probably benign Het
Zfp882 G A 8: 72,667,093 (GRCm39) probably null 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
R6883:Pcdhb6 UTSW 18 37,468,198 (GRCm39) missense probably damaging 1.00
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'- CATGCTCACACTCTACCTGG -3'
(R):5'- CCCTACACAATTAGAAATCATGGG -3'

Sequencing Primer
(F):5'- ACCTGGTCATTGCCTTGG -3'
(R):5'- CAAGGAAAAATTGTTAAATGCAAAGG -3'
Posted On 2019-05-13