Incidental Mutation 'R8677:Pcdh12'
ID 661480
Institutional Source Beutler Lab
Gene Symbol Pcdh12
Ensembl Gene ENSMUSG00000024440
Gene Name protocadherin 12
Synonyms VE-cadherin-2, vascular endothelial cadherin-2
MMRRC Submission 068532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8677 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 38400145-38417454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38415191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 645 (H645N)
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: H645N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: H645N

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 probably benign
Transcript: ENSMUST00000194012
SMART Domains Protein: ENSMUSP00000141907
Gene: ENSMUSG00000024440

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A C 8: 106,427,576 (GRCm39) S25R probably damaging Het
Acly A T 11: 100,410,569 (GRCm39) H136Q probably damaging Het
Adrm1 C T 2: 179,813,832 (GRCm39) T2M probably benign Het
Ankrd12 A T 17: 66,331,209 (GRCm39) L246M probably damaging Het
Bltp2 C T 11: 78,174,982 (GRCm39) R1706C probably damaging Het
Cacnb3 T C 15: 98,539,931 (GRCm39) L258P probably damaging Het
Cd36 C T 5: 18,025,493 (GRCm39) V76M probably damaging Het
Cep120 A G 18: 53,871,633 (GRCm39) F80L possibly damaging Het
Clcn1 A T 6: 42,267,519 (GRCm39) probably null Het
Col17a1 T C 19: 47,640,240 (GRCm39) T1042A probably benign Het
Comp A T 8: 70,832,910 (GRCm39) N623Y probably damaging Het
Ctnnal1 A G 4: 56,813,272 (GRCm39) L653P probably benign Het
Cx3cl1 G T 8: 95,506,443 (GRCm39) R149S probably benign Het
Dbndd2 T A 2: 164,330,522 (GRCm39) N58K probably damaging Het
Dclk1 A G 3: 55,409,840 (GRCm39) I595V probably damaging Het
Dhx15 T C 5: 52,341,886 (GRCm39) D144G probably benign Het
Dlat T C 9: 50,570,007 (GRCm39) E120G probably damaging Het
Fam171a1 T A 2: 3,221,352 (GRCm39) Y273N probably damaging Het
Fndc3b A T 3: 27,511,176 (GRCm39) V778D probably benign Het
Grn T C 11: 102,324,393 (GRCm39) S129P possibly damaging Het
Grxcr1 T C 5: 68,267,757 (GRCm39) F169L possibly damaging Het
Hcn2 A G 10: 79,560,619 (GRCm39) I317V probably benign Het
Heca T C 10: 17,791,424 (GRCm39) N211D probably benign Het
Htr1f T C 16: 64,746,414 (GRCm39) T293A possibly damaging Het
Ifitm10 T A 7: 141,909,749 (GRCm39) I116F probably benign Het
Itprid1 A G 6: 55,849,579 (GRCm39) H37R probably benign Het
Ivl A T 3: 92,479,986 (GRCm39) D26E probably benign Het
Kcnma1 T A 14: 23,436,418 (GRCm39) E761V probably benign Het
Ltbp1 G T 17: 75,655,753 (GRCm39) V923F probably benign Het
Mfsd4b2 A T 10: 39,799,805 (GRCm39) F32L probably benign Het
Micu2 T C 14: 58,161,420 (GRCm39) R301G possibly damaging Het
Miip C T 4: 147,947,503 (GRCm39) C219Y probably damaging Het
Mn1 T A 5: 111,566,885 (GRCm39) L285* probably null Het
Mthfd1l T A 10: 3,998,250 (GRCm39) N664K possibly damaging Het
Mttp A T 3: 137,810,437 (GRCm39) H659Q probably benign Het
Myadml2 G A 11: 120,538,815 (GRCm39) P7S probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4c C T 7: 6,075,644 (GRCm39) T645I probably damaging Het
Notch1 C T 2: 26,359,936 (GRCm39) V1260I probably damaging Het
Numa1 T C 7: 101,650,148 (GRCm39) L1293P probably damaging Het
Or1a1 A T 11: 74,086,415 (GRCm39) I29F probably benign Het
Or56a4 A G 7: 104,806,775 (GRCm39) L38P probably benign Het
Pdcd1 A T 1: 93,968,952 (GRCm39) L122H probably damaging Het
Pknox2 G A 9: 36,821,887 (GRCm39) P246L probably damaging Het
Polr2a A T 11: 69,626,381 (GRCm39) S1590T possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Proser1 A G 3: 53,385,122 (GRCm39) T335A probably benign Het
Ptprc A G 1: 138,011,335 (GRCm39) I598T probably damaging Het
Rasal3 T C 17: 32,615,828 (GRCm39) T337A probably benign Het
Rasgrp3 A T 17: 75,819,055 (GRCm39) T415S probably benign Het
Rbm7 T A 9: 48,401,273 (GRCm39) R152* probably null Het
Sanbr T C 11: 23,545,471 (GRCm39) D474G probably benign Het
Sf3b2 C T 19: 5,336,257 (GRCm39) R513H probably damaging Het
Slc22a30 A G 19: 8,364,035 (GRCm39) S214P probably benign Het
Spam1 A G 6: 24,796,984 (GRCm39) T312A probably benign Het
Ssh2 A G 11: 77,346,019 (GRCm39) T1335A possibly damaging Het
Tef T A 15: 81,699,169 (GRCm39) L59Q probably damaging Het
Tmem131l A C 3: 83,836,009 (GRCm39) V700G probably damaging Het
Twsg1 A G 17: 66,233,402 (GRCm39) S183P probably damaging Het
Unc13c T C 9: 73,840,243 (GRCm39) T203A probably benign Het
Uqcc6 G T 10: 82,456,050 (GRCm39) T37K possibly damaging Het
Vmn2r75 G T 7: 85,814,410 (GRCm39) P361Q possibly damaging Het
Xirp2 A T 2: 67,346,978 (GRCm39) N3073I probably damaging Het
Zfp114 A G 7: 23,880,070 (GRCm39) N140D probably benign 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
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
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'- TACAGCCAGGCAGATCAAAG -3'
(R):5'- CTGTTGCCCATTGAGAATCCC -3'

Sequencing Primer
(F):5'- CTCATGAGCAGAATCCCTTAGGTG -3'
(R):5'- CCATTGAGAATCCCAGTGGCATG -3'
Posted On 2021-03-08