Incidental Mutation 'R6012:Pcdh12'
ID 479834
Institutional Source Beutler Lab
Gene Symbol Pcdh12
Ensembl Gene ENSMUSG00000024440
Gene Name protocadherin 12
Synonyms VE-cadherin-2, vascular endothelial cadherin-2
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6012 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 38400145-38417454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38416805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 107 (S107P)
Ref Sequence ENSEMBL: ENSMUSP00000025311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025311] [ENSMUST00000194012]
AlphaFold O55134
Predicted Effect probably damaging
Transcript: ENSMUST00000025311
AA Change: S107P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: S107P

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
Meta Mutation Damage Score 0.1497 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging 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
IGL02452:Pcdh12 APN 18 38,414,746 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GGCAAAGTGTTCACTGGGAG -3'
(R):5'- AACTGTCCCAAGAACTAAGAGTGG -3'

Sequencing Primer
(F):5'- GAATATAAGCTGTTAGGACCCGTGTC -3'
(R):5'- TCCCAAGAACTAAGAGTGGAGGAG -3'
Posted On 2017-06-26