Incidental Mutation 'R6304:Pcdhb6'
ID 509220
Institutional Source Beutler Lab
Gene Symbol Pcdhb6
Ensembl Gene ENSMUSG00000051678
Gene Name protocadherin beta 6
Synonyms Pcdhb5B, PcdhbF
MMRRC Submission 044380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6304 (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 37468974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 632 (R632*)
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: R632*
SMART Domains Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: R632*

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: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T A 15: 77,619,504 (GRCm39) V100E probably damaging Het
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
Etaa1 A C 11: 17,897,505 (GRCm39) M204R probably damaging Het
G6pc1 A G 11: 101,258,735 (GRCm39) D38G probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Sh3gl1 A T 17: 56,343,431 (GRCm39) F10Y probably benign Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R 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
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
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'- TGACAATGCGCCCTTCATTC -3'
(R):5'- AGTGTGAGCATGTCTTCATCCTG -3'

Sequencing Primer
(F):5'- TTCTCTACCCGATGCAGAACG -3'
(R):5'- CATCCTGTGAAGAGTCGTGC -3'
Posted On 2018-04-02