Incidental Mutation 'IGL01309:Pcdhb12'
ID 73569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb12
Ensembl Gene ENSMUSG00000043458
Gene Name protocadherin beta 12
Synonyms Pcdh3, Pcdhb5F, PcdhbL
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01309
Quality Score
Status
Chromosome 18
Chromosomal Location 37568674-37571707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37569207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 118 (D118Y)
Ref Sequence ENSEMBL: ENSMUSP00000050357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055495] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y07
Predicted Effect probably damaging
Transcript: ENSMUST00000055495
AA Change: D118Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: D118Y

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,931,410 (GRCm39) V275A possibly damaging Het
Adamts2 A G 11: 50,694,528 (GRCm39) D1105G probably benign Het
Adgrb3 T A 1: 25,151,352 (GRCm39) M195L possibly damaging Het
Adrm1 A G 2: 179,817,756 (GRCm39) probably benign Het
Atg13 T A 2: 91,509,176 (GRCm39) I457F possibly damaging Het
BC034090 T C 1: 155,102,130 (GRCm39) N45D probably damaging Het
C3 C T 17: 57,516,652 (GRCm39) probably benign Het
Cacna1a G A 8: 85,249,657 (GRCm39) G221D probably damaging Het
Calr A G 8: 85,573,335 (GRCm39) probably null Het
Chd3 C T 11: 69,248,557 (GRCm39) V825I probably damaging Het
Chdh T G 14: 29,757,761 (GRCm39) probably benign Het
Ckap5 T C 2: 91,400,529 (GRCm39) V627A probably damaging Het
Commd3 A G 2: 18,677,289 (GRCm39) E5G probably benign Het
Ddi1 T C 9: 6,265,773 (GRCm39) R199G probably damaging Het
Dennd4c A G 4: 86,723,724 (GRCm39) probably benign Het
Dok7 G A 5: 35,236,912 (GRCm39) G293D possibly damaging Het
Epm2aip1 T C 9: 111,102,596 (GRCm39) V523A probably benign Het
Fam171b C T 2: 83,709,791 (GRCm39) Q488* probably null Het
Gabbr1 G A 17: 37,359,499 (GRCm39) probably null Het
Gm5965 T G 16: 88,575,219 (GRCm39) S131A possibly damaging Het
Gpcpd1 T C 2: 132,392,244 (GRCm39) D235G probably damaging Het
Grip1 A T 10: 119,767,207 (GRCm39) K111* probably null Het
Itih4 G T 14: 30,613,706 (GRCm39) D308Y probably damaging Het
Kcnj6 A G 16: 94,633,314 (GRCm39) Y266H probably damaging Het
Lrrc41 T C 4: 115,953,663 (GRCm39) L783P probably damaging Het
Map4k5 T C 12: 69,888,737 (GRCm39) D298G probably benign Het
Mapkbp1 T C 2: 119,849,423 (GRCm39) F712L probably damaging Het
Mcoln2 T C 3: 145,869,282 (GRCm39) probably benign Het
Megf11 T A 9: 64,588,698 (GRCm39) S532R probably benign Het
Mkx T C 18: 6,937,192 (GRCm39) D284G probably benign Het
Mmp16 A G 4: 18,116,185 (GRCm39) I596M probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtmr9 A G 14: 63,764,254 (GRCm39) L491P probably damaging Het
Or4a66 T G 2: 88,531,310 (GRCm39) Y121S probably damaging Het
Or8b52 T A 9: 38,576,289 (GRCm39) I284L probably benign Het
Or9s13 T C 1: 92,548,057 (GRCm39) M143T probably damaging Het
Otor T C 2: 142,920,532 (GRCm39) V38A possibly damaging Het
Prelp T C 1: 133,842,545 (GRCm39) H200R probably benign Het
Prmt5 T C 14: 54,747,334 (GRCm39) Y481C probably damaging Het
Psg23 T G 7: 18,348,465 (GRCm39) D114A probably damaging Het
Ptger4 A T 15: 5,272,239 (GRCm39) Y127N probably damaging Het
Rabgap1l C A 1: 160,528,368 (GRCm39) V385L probably benign Het
Rergl T A 6: 139,470,256 (GRCm39) K191* probably null Het
Sart3 A G 5: 113,897,311 (GRCm39) F252S probably damaging Het
Sbno1 A T 5: 124,519,769 (GRCm39) S1169T probably benign Het
Serpinb8 C T 1: 107,532,448 (GRCm39) T180M probably damaging Het
Sipa1l1 G A 12: 82,434,470 (GRCm39) E747K probably benign Het
Sptb T A 12: 76,634,237 (GRCm39) D2158V probably benign Het
Sycp2 T G 2: 177,999,904 (GRCm39) D1024A probably benign Het
Tbr1 T G 2: 61,636,411 (GRCm39) N262K possibly damaging Het
Tnrc6a A T 7: 122,770,717 (GRCm39) I836F probably benign Het
Ttn T C 2: 76,769,091 (GRCm39) E2823G probably damaging Het
Uqcrc1 T A 9: 108,778,026 (GRCm39) L441Q possibly damaging Het
Vmn1r180 T C 7: 23,652,424 (GRCm39) F196L probably damaging Het
Vmn2r111 T C 17: 22,787,997 (GRCm39) I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 (GRCm39) H353L probably damaging Het
Other mutations in Pcdhb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Pcdhb12 APN 18 37,570,035 (GRCm39) missense probably benign 0.44
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
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
Posted On 2013-10-07