Incidental Mutation 'R7982:Pcdhb6'
ID 651297
Institutional Source Beutler Lab
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Name protocadherin beta 6
Synonyms Pcdhb5B, PcdhbF
MMRRC Submission 046023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7982 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37466913-37470491 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 37467273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 65 (R65*)
Ref Sequence ENSEMBL: ENSMUSP00000058592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]
AlphaFold Q91XZ4
Predicted Effect probably null
Transcript: ENSMUST00000061717
AA Change: R65*
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: R65*

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: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,150,284 (GRCm39) S625P probably damaging Het
Actl6b A G 5: 137,561,424 (GRCm39) N142S probably benign Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Aox4 A C 1: 58,296,400 (GRCm39) L1032F possibly damaging Het
Atosb T C 4: 43,034,483 (GRCm39) T371A probably damaging Het
Bcl2l15 T C 3: 103,740,158 (GRCm39) M4T probably damaging Het
Cand1 A T 10: 119,052,378 (GRCm39) S242R probably damaging Het
Cant1 A T 11: 118,300,968 (GRCm39) V229D probably benign Het
Ccdc117 A G 11: 5,481,460 (GRCm39) S224P possibly damaging Het
Cdc42ep4 T C 11: 113,619,402 (GRCm39) R330G possibly damaging Het
Cep164 T C 9: 45,690,162 (GRCm39) E527G probably benign Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Cln6 A C 9: 62,756,450 (GRCm39) K198T possibly damaging Het
Col4a4 G A 1: 82,549,162 (GRCm39) probably benign Het
Cyp1b1 T C 17: 80,017,919 (GRCm39) Y412C probably damaging Het
Dhx30 A T 9: 109,914,524 (GRCm39) L991Q probably damaging Het
Dst C T 1: 34,221,621 (GRCm39) T2475I possibly damaging Het
Exoc8 A T 8: 125,623,149 (GRCm39) V406E probably damaging Het
Grk6 T A 13: 55,599,519 (GRCm39) C201S probably damaging Het
Helz T C 11: 107,517,456 (GRCm39) V664A possibly damaging Het
Hsd17b11 A G 5: 104,151,090 (GRCm39) C215R possibly damaging Het
Ift25 T C 4: 107,132,480 (GRCm39) V89A probably benign Het
Kbtbd12 T C 6: 88,595,616 (GRCm39) I71M possibly damaging Het
Khdc1a A T 1: 21,421,130 (GRCm39) H105L probably benign Het
Klf6 T A 13: 5,911,822 (GRCm39) L62Q probably damaging Het
Mc1r A G 8: 124,134,879 (GRCm39) R211G probably damaging Het
Nt5m T A 11: 59,739,157 (GRCm39) W68R possibly damaging Het
Nufip1 T C 14: 76,363,679 (GRCm39) V301A probably benign Het
Or10ac1 T A 6: 42,515,225 (GRCm39) T244S probably damaging Het
Or12d14-ps1 T G 17: 37,673,502 (GRCm39) F165V probably damaging Het
Or2b7 T C 13: 21,740,136 (GRCm39) N19D probably benign Het
Or51f5 A T 7: 102,424,310 (GRCm39) D193V probably damaging Het
Or5ac25 A G 16: 59,181,927 (GRCm39) I218T probably benign Het
Ostn T C 16: 27,140,189 (GRCm39) probably null Het
Pds5b T C 5: 150,693,406 (GRCm39) I706T probably damaging Het
Pgm2 T G 5: 64,258,302 (GRCm39) Y96D probably damaging Het
Pkd1l2 G A 8: 117,777,926 (GRCm39) T875I possibly damaging Het
Poc1b A G 10: 99,000,764 (GRCm39) S355G probably benign Het
Ppp6r1 A C 7: 4,646,157 (GRCm39) D181E probably benign Het
Pstpip2 G A 18: 77,967,073 (GRCm39) V325M probably benign Het
Rras2 A T 7: 113,658,186 (GRCm39) V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,499,594 (GRCm39) probably benign Het
Stac2 T A 11: 97,933,379 (GRCm39) M188L probably benign Het
Synrg G A 11: 83,910,644 (GRCm39) D859N probably damaging Het
Tarbp1 A T 8: 127,171,040 (GRCm39) S987T probably damaging Het
Tbx20 C A 9: 24,685,220 (GRCm39) probably benign Het
Trim30d G T 7: 104,121,817 (GRCm39) N309K possibly damaging Het
Ttc16 C T 2: 32,665,047 (GRCm39) probably benign Het
Ttc34 T A 4: 154,945,875 (GRCm39) I303N possibly damaging Het
Ubr4 T C 4: 139,155,519 (GRCm39) probably null Het
Uros A T 7: 133,294,278 (GRCm39) S168T unknown Het
Vmn2r6 C T 3: 64,467,241 (GRCm39) G86D probably damaging Het
Ybx2 C T 11: 69,831,448 (GRCm39) T295I possibly damaging Het
Zbed5 T A 5: 129,929,321 (GRCm39) C146S possibly damaging Het
Zcchc2 G A 1: 105,958,901 (GRCm39) C1124Y probably damaging Het
Zfp626 G A 7: 27,510,175 (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
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
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'- AGAAGCACTGCTCTTTGGATC -3'
(R):5'- TGAGCTGCAGTTCAGTTTGAAAG -3'

Sequencing Primer
(F):5'- GAAGCACTGCTCTTTGGATCATAGC -3'
(R):5'- AGAACTGCACAGGGTTTTCTAG -3'
Posted On 2020-09-15