Incidental Mutation 'IGL02064:Pcdh19'
ID185543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdh19
Ensembl Gene ENSMUSG00000051323
Gene Nameprotocadherin 19
SynonymsB530002L05Rik, LOC279653
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02064
Quality Score
Status
ChromosomeX
Chromosomal Location133582860-133688987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133685970 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 432 (M432T)
Ref Sequence ENSEMBL: ENSMUSP00000128313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060309] [ENSMUST00000149154] [ENSMUST00000167944]
Predicted Effect probably benign
Transcript: ENSMUST00000060309
SMART Domains Protein: ENSMUSP00000049889
Gene: ENSMUSG00000051323

DomainStartEndE-ValueType
CA 18 104 2.34e-25 SMART
CA 133 213 4.18e-13 SMART
transmembrane domain 222 244 N/A INTRINSIC
low complexity region 269 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149154
AA Change: M432T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116886
Gene: ENSMUSG00000051323
AA Change: M432T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 50 127 2.36e-2 SMART
CA 151 236 1.44e-16 SMART
CA 260 344 3.66e-27 SMART
low complexity region 347 361 N/A INTRINSIC
CA 371 451 1.95e-22 SMART
CA 475 561 2.34e-25 SMART
CA 590 670 4.18e-13 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 773 783 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167944
AA Change: M432T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128313
Gene: ENSMUSG00000051323
AA Change: M432T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 50 127 2.36e-2 SMART
CA 151 236 1.44e-16 SMART
CA 260 344 3.66e-27 SMART
low complexity region 347 361 N/A INTRINSIC
CA 371 451 1.95e-22 SMART
CA 475 561 2.34e-25 SMART
CA 590 670 4.18e-13 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 726 736 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193485
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Female mice heterozygous for a null mutation display abnormal electrocorticograms and distinct clusters of null and wild-type cells in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Pcdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Pcdh19 APN X 133681258 nonsense probably null
IGL02089:Pcdh19 APN X 133588496 missense probably benign 0.45
R2895:Pcdh19 UTSW X 133681308 frame shift probably null
R2895:Pcdh19 UTSW X 133681309 frame shift probably null
R2896:Pcdh19 UTSW X 133681309 frame shift probably null
Z1176:Pcdh19 UTSW X 133682092 missense probably null 0.28
Z1177:Pcdh19 UTSW X 133588017 missense probably benign 0.01
Posted On2014-05-07