Incidental Mutation 'R5091:Pcdhb12'
ID 387783
Institutional Source Beutler Lab
Gene Symbol Pcdhb12
Ensembl Gene ENSMUSG00000043458
Gene Name protocadherin beta 12
Synonyms Pcdh3, Pcdhb5F, PcdhbL
MMRRC Submission 042680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5091 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37568674-37571707 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 37568907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 18 (K18*)
Ref Sequence ENSEMBL: ENSMUSP00000050357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y07
Predicted Effect probably null
Transcript: ENSMUST00000055495
AA Change: K18*
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: K18*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,701,057 (GRCm39) S174P probably damaging Het
4931414P19Rik T C 14: 54,823,168 (GRCm39) E343G probably damaging Het
Abca14 T C 7: 119,851,497 (GRCm39) V825A probably damaging Het
Abca8b G T 11: 109,827,210 (GRCm39) T1466K possibly damaging Het
Adcy8 A G 15: 64,678,553 (GRCm39) S467P probably damaging Het
Agbl4 T C 4: 110,976,237 (GRCm39) V198A possibly damaging Het
Agpat4 A G 17: 12,417,699 (GRCm39) K80R probably benign Het
Akap8 T C 17: 32,535,208 (GRCm39) T269A probably benign Het
Ankhd1 A T 18: 36,758,080 (GRCm39) I925F possibly damaging Het
Aste1 A G 9: 105,282,203 (GRCm39) Y57C probably damaging Het
Axdnd1 A G 1: 156,247,980 (GRCm39) S7P possibly damaging Het
BC051019 T A 7: 109,319,789 (GRCm39) R91S probably null Het
Cavin2 C A 1: 51,340,398 (GRCm39) N358K probably benign Het
Cd2 T C 3: 101,190,355 (GRCm39) N196S probably benign Het
Clca3a1 C T 3: 144,436,483 (GRCm39) V867I probably benign Het
Col6a4 T A 9: 105,952,262 (GRCm39) K545N probably damaging Het
Cps1 T A 1: 67,268,679 (GRCm39) probably null Het
Cyp2c65 A T 19: 39,076,009 (GRCm39) probably null Het
Dcaf6 T C 1: 165,157,572 (GRCm39) D856G possibly damaging Het
Epcam T C 17: 87,949,580 (GRCm39) I181T probably damaging Het
Esrp2 A G 8: 106,859,061 (GRCm39) S562P probably damaging Het
Fcgbpl1 A C 7: 27,856,383 (GRCm39) I2057L probably benign Het
Ffar4 A G 19: 38,085,627 (GRCm39) D18G probably benign Het
Gen1 C T 12: 11,296,347 (GRCm39) V337I probably damaging Het
Gimap8 C T 6: 48,633,581 (GRCm39) P467S possibly damaging Het
Gnl3 T A 14: 30,738,803 (GRCm39) H82L possibly damaging Het
Grid2 T C 6: 64,053,862 (GRCm39) S354P probably benign Het
Ighmbp2 T A 19: 3,315,084 (GRCm39) T779S possibly damaging Het
Ints15 C T 5: 143,293,443 (GRCm39) E345K possibly damaging Het
Kif19a C A 11: 114,673,923 (GRCm39) T348N probably damaging Het
Lrrc15 T A 16: 30,092,172 (GRCm39) N389I probably damaging Het
Mrps26 A G 2: 130,405,886 (GRCm39) Y63C probably damaging Het
Myd88 C A 9: 119,166,889 (GRCm39) V223F possibly damaging Het
Nox4 T A 7: 87,025,450 (GRCm39) W526R probably damaging Het
Nrg2 A T 18: 36,185,838 (GRCm39) N300K probably damaging Het
Nsmf T C 2: 24,950,464 (GRCm39) probably benign Het
Patl2 A C 2: 121,954,283 (GRCm39) H429Q probably benign Het
Peg10 T A 6: 4,754,511 (GRCm39) D97E probably benign Het
Runx1t1 C T 4: 13,846,830 (GRCm39) Q205* probably null Het
Selenon T C 4: 134,275,284 (GRCm39) K138R probably damaging Het
Slc13a3 T C 2: 165,262,000 (GRCm39) E369G probably benign Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sptbn4 A T 7: 27,068,816 (GRCm39) M499K probably damaging Het
Sra1 A T 18: 36,803,012 (GRCm39) probably benign Het
Stra6 T C 9: 58,048,429 (GRCm39) L174P probably damaging Het
Syngr1 T C 15: 80,000,086 (GRCm39) Y66H probably damaging Het
Synpo G T 18: 60,735,831 (GRCm39) S466* probably null Het
Tenm3 T A 8: 48,795,343 (GRCm39) M595L probably benign Het
Tnks T C 8: 35,308,963 (GRCm39) T1099A probably benign Het
Tram1l1 G T 3: 124,115,400 (GRCm39) V187F possibly damaging Het
Trappc11 T C 8: 47,965,639 (GRCm39) E529G probably benign Het
Usp17la T C 7: 104,510,139 (GRCm39) V248A probably damaging Het
Virma T C 4: 11,519,392 (GRCm39) Y880H probably benign Het
Vmn1r214 C T 13: 23,219,571 (GRCm39) T355I possibly damaging Het
Vmn2r7 T C 3: 64,598,205 (GRCm39) K784R possibly damaging Het
Wrap53 C T 11: 69,453,273 (GRCm39) W389* probably null Het
Zfp748 A G 13: 67,689,638 (GRCm39) S541P 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
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
R6260: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'- GCAGAATTTCGGAAGCTTTGG -3'
(R):5'- ACAAATTCCCAGTCTCTGCATC -3'

Sequencing Primer
(F):5'- ATCATTTGGGAAGAAGGCGTCTCC -3'
(R):5'- GCATCCATCTGCAAGAGCTCTTTG -3'
Posted On 2016-06-06