Incidental Mutation 'R5523:Pcdh12'
ID 431718
Institutional Source Beutler Lab
Gene Symbol Pcdh12
Ensembl Gene ENSMUSG00000024440
Gene Name protocadherin 12
Synonyms VE-cadherin-2, vascular endothelial cadherin-2
MMRRC Submission 043265-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5523 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 38400145-38417454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38416192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 311 (D311G)
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: D311G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: D311G

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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,644,273 (GRCm39) T70M probably benign Het
Adamtsl3 G A 7: 82,223,650 (GRCm39) A218T possibly damaging Het
Ahnak2 T C 12: 112,741,642 (GRCm39) D810G probably damaging Het
Ak7 T A 12: 105,707,341 (GRCm39) L315* probably null Het
Apoa5 T C 9: 46,181,887 (GRCm39) F321S possibly damaging Het
Baiap2l1 G C 5: 144,212,768 (GRCm39) P416A probably damaging Het
Bco1 A G 8: 117,835,432 (GRCm39) I128V possibly damaging Het
Bpifb2 T C 2: 153,717,905 (GRCm39) probably benign Het
Cdt1 G A 8: 123,294,832 (GRCm39) R13H possibly damaging Het
Cenpj A G 14: 56,789,880 (GRCm39) V723A probably benign Het
Chl1 T A 6: 103,685,675 (GRCm39) W849R probably damaging Het
Cpne9 A G 6: 113,267,192 (GRCm39) D169G probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp4f39 C A 17: 32,689,807 (GRCm39) N84K probably benign Het
Cyp4f40 T A 17: 32,888,796 (GRCm39) F192I probably damaging Het
Disp3 T C 4: 148,342,554 (GRCm39) D632G probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Echs1 G T 7: 139,692,426 (GRCm39) T107K probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Ergic1 G A 17: 26,843,580 (GRCm39) V17I probably damaging Het
Fank1 G T 7: 133,478,569 (GRCm39) C210F probably damaging Het
Fbxo15 T G 18: 84,978,194 (GRCm39) M136R probably damaging Het
Ggcx C A 6: 72,401,017 (GRCm39) P240H probably damaging Het
Gpr179 T C 11: 97,227,608 (GRCm39) R1516G probably benign Het
Gprin3 G A 6: 59,330,931 (GRCm39) Q459* probably null Het
Hadha C A 5: 30,350,252 (GRCm39) V99F possibly damaging Het
Hirip3 A G 7: 126,463,034 (GRCm39) D330G possibly damaging Het
Irx2 T C 13: 72,779,714 (GRCm39) W333R probably damaging Het
Kansl1l T C 1: 66,841,271 (GRCm39) T10A probably benign Het
Kcnd2 T C 6: 21,723,211 (GRCm39) I467T probably benign Het
Klc3 A T 7: 19,130,932 (GRCm39) I215N probably damaging Het
Kmt2c A G 5: 25,504,337 (GRCm39) V3657A probably benign Het
Lin28b A T 10: 45,345,164 (GRCm39) L54* probably null Het
Mgll T C 6: 88,702,743 (GRCm39) V14A probably benign Het
Mrc2 A G 11: 105,234,408 (GRCm39) N976S probably benign Het
Myh8 C A 11: 67,196,788 (GRCm39) A1807E possibly damaging Het
Nalcn G A 14: 123,647,155 (GRCm39) P573S probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Neb T C 2: 52,168,827 (GRCm39) S1903G probably benign Het
Nfe2 T A 15: 103,157,556 (GRCm39) D145V probably damaging Het
Or52a20 T A 7: 103,366,687 (GRCm39) Y295* probably null Het
Padi1 A T 4: 140,542,164 (GRCm39) V586D probably damaging Het
Pcdha11 A T 18: 37,145,439 (GRCm39) H510L probably damaging Het
Plcb1 C A 2: 135,102,486 (GRCm39) P221H probably benign Het
Plekhg2 A T 7: 28,069,856 (GRCm39) V58E probably damaging Het
Pparg A C 6: 115,467,032 (GRCm39) Q435P probably damaging Het
Ppp1r36 A G 12: 76,484,892 (GRCm39) T282A possibly damaging Het
Prcd T C 11: 116,559,110 (GRCm39) probably benign Het
Pygo1 A T 9: 72,852,266 (GRCm39) H151L possibly damaging Het
Rnmt A G 18: 68,446,773 (GRCm39) Y266C probably benign Het
Rxrb T C 17: 34,255,411 (GRCm39) V246A probably damaging Het
Sart1 A G 19: 5,433,704 (GRCm39) S378P probably damaging Het
Sema4d T C 13: 51,865,390 (GRCm39) N318S possibly damaging Het
Sis C T 3: 72,798,754 (GRCm39) V1765I probably benign Het
Slc17a6 A T 7: 51,276,598 (GRCm39) K116* probably null Het
Smc6 T A 12: 11,341,540 (GRCm39) H519Q probably benign Het
Sowahc T A 10: 59,058,785 (GRCm39) M307K probably benign Het
Sptbn1 A G 11: 30,087,560 (GRCm39) Y960H probably damaging Het
Tmem270 A C 5: 134,931,636 (GRCm39) V102G probably benign Het
Tmprss11d A G 5: 86,486,729 (GRCm39) F54L probably benign Het
Top1 T A 2: 160,544,695 (GRCm39) Y270* probably null Het
Trpm2 A G 10: 77,771,795 (GRCm39) F615L probably benign Het
Ttf2 A G 3: 100,866,558 (GRCm39) S525P probably damaging Het
Ttn A T 2: 76,777,241 (GRCm39) M1387K possibly damaging Het
Upk3bl A T 5: 136,088,954 (GRCm39) R156W probably damaging Het
Usp34 G T 11: 23,299,198 (GRCm39) R290L probably benign Het
Vwf T C 6: 125,620,005 (GRCm39) V1561A Het
Zan A G 5: 137,420,155 (GRCm39) I2834T unknown Het
Zfp105 A G 9: 122,755,454 (GRCm39) Y90C probably benign Het
Zfp804a T C 2: 82,089,339 (GRCm39) V1056A probably damaging Het
Zfp956 A T 6: 47,930,455 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GACCGTTGTTTCCTGAGTCC -3'
(R):5'- AGAAGACACTGTTCCTGGTACTC -3'

Sequencing Primer
(F):5'- GAAGCTATCCCTGGGAAGATCTTC -3'
(R):5'- CTTCTCATAAACCTGACTGCTACAG -3'
Posted On 2016-10-05