Incidental Mutation 'R6260:Pcdhb12'
ID 506662
Institutional Source Beutler Lab
Gene Symbol Pcdhb12
Ensembl Gene ENSMUSG00000043458
Gene Name protocadherin beta 12
Synonyms Pcdh3, Pcdhb5F, PcdhbL
MMRRC Submission 044377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6260 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37568674-37571707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37569892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 346 (V346A)
Ref Sequence ENSEMBL: ENSMUSP00000050357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y07
Predicted Effect probably benign
Transcript: ENSMUST00000055495
AA Change: V346A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: V346A

DomainStartEndE-ValueType
CA 53 130 1.67e-1 SMART
CA 154 239 3.69e-23 SMART
CA 263 343 6.56e-29 SMART
CA 366 447 5.9e-22 SMART
CA 471 557 4.24e-23 SMART
CA 587 668 1.01e-11 SMART
Pfam:Cadherin_C_2 685 768 4.8e-26 PFAM
low complexity region 778 790 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000193015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193629
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,844,821 (GRCm39) N1514K probably damaging Het
Abcb4 G T 5: 8,984,219 (GRCm39) G650* probably null Het
Acsbg1 T A 9: 54,535,751 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
Ank2 C T 3: 126,737,206 (GRCm39) V2806I probably benign Het
Atxn10 A T 15: 85,346,612 (GRCm39) I457F probably benign Het
Cad G T 5: 31,224,144 (GRCm39) M800I probably null Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Ccz1 A G 5: 143,940,859 (GRCm39) probably null Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Cfap52 A T 11: 67,829,780 (GRCm39) C330S possibly damaging Het
Clec16a C T 16: 10,512,712 (GRCm39) probably benign Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddhd2 A G 8: 26,242,144 (GRCm39) F244L probably benign Het
Ddn A G 15: 98,703,735 (GRCm39) V519A possibly damaging Het
Dip2b G T 15: 100,060,583 (GRCm39) V253L probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Foxd4 A G 19: 24,876,968 (GRCm39) S411P probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Galntl6 T A 8: 58,337,515 (GRCm39) D135V probably damaging Het
Gm1043 G C 5: 37,331,816 (GRCm39) G832A probably benign Het
Gm21103 C T 14: 17,484,841 (GRCm39) E68K probably damaging Het
Gpam A G 19: 55,071,838 (GRCm39) V301A probably benign Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jak3 C A 8: 72,131,954 (GRCm39) Q177K probably benign Het
Kcnu1 G A 8: 26,341,919 (GRCm39) R88H probably damaging Het
Kng1 A T 16: 22,877,371 (GRCm39) I60F possibly damaging Het
Krt77 A T 15: 101,772,807 (GRCm39) Y257* probably null Het
Lcor A T 19: 41,570,809 (GRCm39) S1C probably null Het
Lcor G T 19: 41,570,810 (GRCm39) S1I possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mefv C T 16: 3,530,898 (GRCm39) R498H probably benign Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Mtcl1 T A 17: 66,650,536 (GRCm39) Q1340L probably damaging Het
Nfic A T 10: 81,256,351 (GRCm39) C126* probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or2ag1b A T 7: 106,288,079 (GRCm39) N286K probably damaging Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or6c65 C A 10: 129,603,389 (GRCm39) T8K probably benign Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Plxnb2 A T 15: 89,049,494 (GRCm39) I575N probably benign Het
Pnma8b T G 7: 16,680,158 (GRCm39) W381G probably benign Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rwdd2b C A 16: 87,231,356 (GRCm39) G266V probably damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
St8sia2 T A 7: 73,626,441 (GRCm39) R42S possibly damaging Het
Syt9 G T 7: 107,035,717 (GRCm39) V245F possibly damaging Het
Tbpl2 T A 2: 23,984,898 (GRCm39) N82I possibly damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Timm13 A C 10: 80,736,135 (GRCm39) probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ttc27 T A 17: 75,165,086 (GRCm39) V764D probably damaging Het
Ttc39d C A 17: 80,524,076 (GRCm39) S245* probably null Het
Ttc41 A G 10: 86,567,023 (GRCm39) E563G probably benign Het
Ttc41 A T 10: 86,569,571 (GRCm39) T650S probably benign Het
U2surp A C 9: 95,358,210 (GRCm39) L723R probably damaging Het
Ubqln3 G A 7: 103,791,524 (GRCm39) Q189* probably null Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Vmn2r79 T A 7: 86,686,365 (GRCm39) M582K probably benign Het
Zfp518a A G 19: 40,902,567 (GRCm39) D832G probably benign Het
Zfyve28 T C 5: 34,356,216 (GRCm39) N762D probably damaging Het
Other mutations in Pcdhb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Pcdhb12 APN 18 37,570,035 (GRCm39) missense probably benign 0.44
IGL01309:Pcdhb12 APN 18 37,569,207 (GRCm39) missense probably damaging 1.00
IGL01834:Pcdhb12 APN 18 37,570,692 (GRCm39) missense probably damaging 1.00
IGL01893:Pcdhb12 APN 18 37,570,263 (GRCm39) missense probably benign 0.01
IGL02617:Pcdhb12 APN 18 37,570,099 (GRCm39) missense probably benign 0.43
R0238:Pcdhb12 UTSW 18 37,569,780 (GRCm39) missense probably benign 0.00
R0238:Pcdhb12 UTSW 18 37,569,780 (GRCm39) missense probably benign 0.00
R0309:Pcdhb12 UTSW 18 37,569,174 (GRCm39) missense probably benign
R0392:Pcdhb12 UTSW 18 37,570,011 (GRCm39) missense possibly damaging 0.60
R0494:Pcdhb12 UTSW 18 37,571,148 (GRCm39) missense probably benign
R0531:Pcdhb12 UTSW 18 37,570,371 (GRCm39) missense probably damaging 1.00
R0571:Pcdhb12 UTSW 18 37,570,261 (GRCm39) missense probably damaging 1.00
R0737:Pcdhb12 UTSW 18 37,570,762 (GRCm39) missense probably damaging 1.00
R0882:Pcdhb12 UTSW 18 37,570,375 (GRCm39) missense probably damaging 1.00
R1253:Pcdhb12 UTSW 18 37,568,874 (GRCm39) missense possibly damaging 0.65
R1300:Pcdhb12 UTSW 18 37,570,450 (GRCm39) missense possibly damaging 0.45
R1334:Pcdhb12 UTSW 18 37,569,724 (GRCm39) missense probably damaging 0.98
R1424:Pcdhb12 UTSW 18 37,571,132 (GRCm39) missense probably benign
R1513:Pcdhb12 UTSW 18 37,570,111 (GRCm39) missense probably damaging 1.00
R1654:Pcdhb12 UTSW 18 37,569,754 (GRCm39) missense probably damaging 1.00
R1717:Pcdhb12 UTSW 18 37,569,841 (GRCm39) missense probably damaging 1.00
R1753:Pcdhb12 UTSW 18 37,569,724 (GRCm39) missense probably damaging 0.98
R1774:Pcdhb12 UTSW 18 37,569,495 (GRCm39) missense possibly damaging 0.52
R1893:Pcdhb12 UTSW 18 37,570,136 (GRCm39) missense probably benign 0.24
R1901:Pcdhb12 UTSW 18 37,570,683 (GRCm39) missense possibly damaging 0.67
R2114:Pcdhb12 UTSW 18 37,569,265 (GRCm39) missense probably damaging 1.00
R2264:Pcdhb12 UTSW 18 37,569,858 (GRCm39) missense probably damaging 0.99
R2915:Pcdhb12 UTSW 18 37,570,693 (GRCm39) missense probably damaging 1.00
R3689:Pcdhb12 UTSW 18 37,569,127 (GRCm39) missense probably benign 0.01
R3918:Pcdhb12 UTSW 18 37,570,101 (GRCm39) missense probably benign
R4621:Pcdhb12 UTSW 18 37,570,213 (GRCm39) missense probably benign
R4679:Pcdhb12 UTSW 18 37,570,002 (GRCm39) missense probably damaging 1.00
R4709:Pcdhb12 UTSW 18 37,570,548 (GRCm39) missense probably benign 0.08
R4904:Pcdhb12 UTSW 18 37,570,909 (GRCm39) missense possibly damaging 0.80
R4953:Pcdhb12 UTSW 18 37,569,209 (GRCm39) missense probably damaging 1.00
R5091:Pcdhb12 UTSW 18 37,568,907 (GRCm39) nonsense probably null
R5130:Pcdhb12 UTSW 18 37,568,877 (GRCm39) missense probably benign
R5204:Pcdhb12 UTSW 18 37,569,142 (GRCm39) missense probably damaging 0.99
R5361:Pcdhb12 UTSW 18 37,570,099 (GRCm39) missense probably damaging 1.00
R5417:Pcdhb12 UTSW 18 37,569,087 (GRCm39) missense probably benign 0.00
R5979:Pcdhb12 UTSW 18 37,571,044 (GRCm39) missense possibly damaging 0.94
R6117:Pcdhb12 UTSW 18 37,568,695 (GRCm39) intron probably benign
R6258:Pcdhb12 UTSW 18 37,569,892 (GRCm39) missense probably benign 0.00
R6270:Pcdhb12 UTSW 18 37,569,838 (GRCm39) missense possibly damaging 0.68
R6623:Pcdhb12 UTSW 18 37,570,711 (GRCm39) missense possibly damaging 0.54
R7288:Pcdhb12 UTSW 18 37,569,068 (GRCm39) missense probably benign 0.07
R7733:Pcdhb12 UTSW 18 37,570,089 (GRCm39) missense probably damaging 1.00
R7762:Pcdhb12 UTSW 18 37,568,977 (GRCm39) missense probably damaging 0.98
R8131:Pcdhb12 UTSW 18 37,570,335 (GRCm39) missense possibly damaging 0.91
R8331:Pcdhb12 UTSW 18 37,570,342 (GRCm39) missense probably damaging 1.00
R8483:Pcdhb12 UTSW 18 37,570,590 (GRCm39) missense possibly damaging 0.86
R8553:Pcdhb12 UTSW 18 37,570,687 (GRCm39) missense probably damaging 0.99
R8693:Pcdhb12 UTSW 18 37,570,474 (GRCm39) missense probably benign 0.31
R8821:Pcdhb12 UTSW 18 37,570,386 (GRCm39) missense probably benign 0.07
R8831:Pcdhb12 UTSW 18 37,570,386 (GRCm39) missense probably benign 0.07
R8950:Pcdhb12 UTSW 18 37,570,590 (GRCm39) missense probably benign 0.39
R9037:Pcdhb12 UTSW 18 37,569,229 (GRCm39) missense probably benign 0.00
R9272:Pcdhb12 UTSW 18 37,570,675 (GRCm39) missense probably damaging 1.00
R9782:Pcdhb12 UTSW 18 37,570,393 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAAGGGGATGGATTATCTCAACC -3'
(R):5'- TGCCCAAATCCCAGACAGTG -3'

Sequencing Primer
(F):5'- AGGGGATGGATTATCTCAACCATTTG -3'
(R):5'- CCAAATCCCAGACAGTGATGGTG -3'
Posted On 2018-03-15