Incidental Mutation 'IGL02452:Pcdh12'
ID 293692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh12
Ensembl Gene ENSMUSG00000024440
Gene Name protocadherin 12
Synonyms VE-cadherin-2, vascular endothelial cadherin-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02452
Quality Score
Status
Chromosome 18
Chromosomal Location 38400145-38417454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38414746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 793 (P793L)
Ref Sequence ENSEMBL: ENSMUSP00000025311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025311] [ENSMUST00000194012]
AlphaFold O55134
Predicted Effect probably benign
Transcript: ENSMUST00000025311
AA Change: P793L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: P793L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CA 53 133 4.42e-2 SMART
CA 157 242 2.55e-17 SMART
CA 266 350 2.31e-24 SMART
CA 376 458 3.86e-26 SMART
CA 482 563 6.27e-26 SMART
CA 621 704 3.02e-2 SMART
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 960 975 N/A INTRINSIC
low complexity region 1032 1041 N/A INTRINSIC
low complexity region 1115 1125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193123
Predicted Effect probably benign
Transcript: ENSMUST00000194012
SMART Domains Protein: ENSMUSP00000141907
Gene: ENSMUSG00000024440

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195747
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,647,607 (GRCm39) V11F probably damaging Het
Alk A T 17: 72,209,620 (GRCm39) Y941* probably null Het
Blm A T 7: 80,153,125 (GRCm39) probably null Het
Blvrb T C 7: 27,158,765 (GRCm39) V55A possibly damaging Het
Cdh23 T A 10: 60,153,721 (GRCm39) T2288S probably damaging Het
Csnk1g1 T A 9: 65,915,067 (GRCm39) M242K probably damaging Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Cyp2d26 T A 15: 82,676,827 (GRCm39) H173L probably benign Het
Cyp2g1 T A 7: 26,510,871 (GRCm39) S131T probably benign Het
Dusp29 G A 14: 21,752,990 (GRCm39) T52I probably damaging Het
Dzip3 T A 16: 48,758,900 (GRCm39) probably benign Het
Espl1 T C 15: 102,208,274 (GRCm39) S427P probably damaging Het
Fasn A T 11: 120,699,006 (GRCm39) D2424E probably benign Het
Flrt2 G A 12: 95,746,257 (GRCm39) M198I probably benign Het
Gen1 A T 12: 11,292,576 (GRCm39) S404R probably benign Het
Gm11596 A T 11: 99,683,806 (GRCm39) C105S unknown Het
Hdlbp A T 1: 93,345,233 (GRCm39) V714D probably damaging Het
Igkv4-80 A G 6: 68,993,816 (GRCm39) V25A probably benign Het
Igkv8-27 C T 6: 70,148,925 (GRCm39) W76* probably null Het
Ikzf1 T C 11: 11,698,545 (GRCm39) L132P probably damaging Het
Kcna6 C A 6: 126,715,443 (GRCm39) C482F possibly damaging Het
Lhx9 A T 1: 138,769,580 (GRCm39) L47Q probably damaging Het
Lrp4 T A 2: 91,304,347 (GRCm39) D175E probably damaging Het
Lrrtm3 T C 10: 63,923,815 (GRCm39) K451E probably damaging Het
Mcm9 C T 10: 53,417,653 (GRCm39) V17M probably damaging Het
Mios T A 6: 8,222,492 (GRCm39) S475R probably benign Het
Mmp24 C T 2: 155,657,708 (GRCm39) R533C probably damaging Het
Moxd1 C T 10: 24,158,650 (GRCm39) P435S probably damaging Het
Mta2 T A 19: 8,927,670 (GRCm39) I497N probably benign Het
Mtus2 T C 5: 148,014,473 (GRCm39) V422A probably benign Het
Ndufaf1 A T 2: 119,486,907 (GRCm39) F260Y probably damaging Het
Nfasc C T 1: 132,548,662 (GRCm39) probably null Het
Nid1 A T 13: 13,683,305 (GRCm39) T1128S probably benign Het
Odad2 C T 18: 7,129,461 (GRCm39) E906K probably damaging Het
Or51f1d A G 7: 102,701,138 (GRCm39) D211G probably benign Het
Pclo A T 5: 14,726,980 (GRCm39) probably benign Het
Prpf31 T A 7: 3,637,185 (GRCm39) N161K possibly damaging Het
Prpf6 T G 2: 181,290,878 (GRCm39) N656K probably benign Het
Ptprn T A 1: 75,234,813 (GRCm39) H258L probably benign Het
Rab19 A G 6: 39,366,732 (GRCm39) T216A probably benign Het
Ryr3 A C 2: 112,664,335 (GRCm39) L1652W probably damaging Het
Six2 A C 17: 85,992,806 (GRCm39) S232R possibly damaging Het
Spag17 T C 3: 99,934,707 (GRCm39) V663A probably benign Het
Spag5 A G 11: 78,195,449 (GRCm39) N252S probably benign Het
Spata31e4 A T 13: 50,857,113 (GRCm39) H917L probably damaging Het
Sptb C T 12: 76,655,810 (GRCm39) probably null Het
Synj1 A G 16: 90,758,253 (GRCm39) probably benign Het
Tekt2 T C 4: 126,218,645 (GRCm39) H36R possibly damaging Het
Tjp1 A T 7: 64,962,403 (GRCm39) M1258K probably damaging Het
Txnrd3 T C 6: 89,651,777 (GRCm39) *502Q probably null Het
Other mutations in Pcdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Pcdh12 APN 18 38,414,510 (GRCm39) missense probably benign
IGL00964:Pcdh12 APN 18 38,415,784 (GRCm39) missense probably benign 0.27
IGL01105:Pcdh12 APN 18 38,408,400 (GRCm39) missense probably damaging 1.00
IGL02011:Pcdh12 APN 18 38,414,473 (GRCm39) missense probably damaging 1.00
IGL02234:Pcdh12 APN 18 38,416,588 (GRCm39) missense probably damaging 1.00
IGL03412:Pcdh12 APN 18 38,416,568 (GRCm39) missense probably benign 0.24
R0729:Pcdh12 UTSW 18 38,415,517 (GRCm39) missense probably benign 0.20
R1330:Pcdh12 UTSW 18 38,414,914 (GRCm39) missense probably benign 0.13
R1394:Pcdh12 UTSW 18 38,414,242 (GRCm39) critical splice donor site probably null
R1413:Pcdh12 UTSW 18 38,416,496 (GRCm39) missense probably damaging 1.00
R1993:Pcdh12 UTSW 18 38,415,196 (GRCm39) missense possibly damaging 0.62
R2115:Pcdh12 UTSW 18 38,417,039 (GRCm39) missense probably damaging 1.00
R2567:Pcdh12 UTSW 18 38,415,149 (GRCm39) missense probably damaging 1.00
R2926:Pcdh12 UTSW 18 38,415,443 (GRCm39) missense probably damaging 0.99
R3810:Pcdh12 UTSW 18 38,414,290 (GRCm39) missense probably damaging 1.00
R3813:Pcdh12 UTSW 18 38,416,667 (GRCm39) nonsense probably null
R5275:Pcdh12 UTSW 18 38,417,154 (GRCm39) utr 5 prime probably benign
R5400:Pcdh12 UTSW 18 38,401,951 (GRCm39) missense probably damaging 1.00
R5523:Pcdh12 UTSW 18 38,416,192 (GRCm39) missense probably damaging 1.00
R5539:Pcdh12 UTSW 18 38,414,797 (GRCm39) missense possibly damaging 0.77
R5604:Pcdh12 UTSW 18 38,401,935 (GRCm39) missense probably damaging 1.00
R6012:Pcdh12 UTSW 18 38,416,805 (GRCm39) missense probably damaging 1.00
R6042:Pcdh12 UTSW 18 38,414,558 (GRCm39) missense probably damaging 1.00
R6129:Pcdh12 UTSW 18 38,410,912 (GRCm39) missense probably damaging 1.00
R6239:Pcdh12 UTSW 18 38,415,454 (GRCm39) missense probably damaging 1.00
R6508:Pcdh12 UTSW 18 38,414,390 (GRCm39) nonsense probably null
R7250:Pcdh12 UTSW 18 38,415,029 (GRCm39) missense probably benign
R7259:Pcdh12 UTSW 18 38,414,677 (GRCm39) missense probably benign 0.00
R7271:Pcdh12 UTSW 18 38,416,100 (GRCm39) missense probably damaging 1.00
R7489:Pcdh12 UTSW 18 38,414,842 (GRCm39) missense possibly damaging 0.77
R8103:Pcdh12 UTSW 18 38,415,212 (GRCm39) missense probably damaging 1.00
R8157:Pcdh12 UTSW 18 38,415,850 (GRCm39) missense probably benign
R8322:Pcdh12 UTSW 18 38,414,630 (GRCm39) nonsense probably null
R8471:Pcdh12 UTSW 18 38,415,308 (GRCm39) missense probably benign 0.00
R8503:Pcdh12 UTSW 18 38,415,574 (GRCm39) missense possibly damaging 0.86
R8510:Pcdh12 UTSW 18 38,415,109 (GRCm39) missense possibly damaging 0.89
R8677:Pcdh12 UTSW 18 38,415,191 (GRCm39) missense probably benign 0.01
R8788:Pcdh12 UTSW 18 38,416,109 (GRCm39) missense probably benign 0.19
R9274:Pcdh12 UTSW 18 38,415,950 (GRCm39) missense probably damaging 0.98
R9639:Pcdh12 UTSW 18 38,402,032 (GRCm39) missense probably damaging 1.00
R9697:Pcdh12 UTSW 18 38,415,022 (GRCm39) missense possibly damaging 0.61
Z1177:Pcdh12 UTSW 18 38,416,045 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16