Incidental Mutation 'IGL02089:Pcdh19'
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ID279363
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 #IGL02089
Quality Score
Status
ChromosomeX
Chromosomal Location133582860-133688987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133588496 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 977 (M977K)
Ref Sequence ENSEMBL: ENSMUSP00000116886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060309] [ENSMUST00000149154] [ENSMUST00000167944] [ENSMUST00000193376]
Predicted Effect probably benign
Transcript: ENSMUST00000060309
AA Change: M473K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049889
Gene: ENSMUSG00000051323
AA Change: M473K

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: M977K

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116886
Gene: ENSMUSG00000051323
AA Change: M977K

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: M929K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128313
Gene: ENSMUSG00000051323
AA Change: M929K

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 probably benign
Transcript: ENSMUST00000193376
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Ergic3 A G 2: 156,010,475 N135D probably benign Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Hipk3 T C 2: 104,431,379 D937G probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
Qprt A T 7: 127,108,356 M220K probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rbbp7 C A X: 162,771,056 P162Q probably benign Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Usp38 T C 8: 80,985,714 E564G possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T probably benign Het
Other mutations in Pcdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Pcdh19 APN X 133685970 missense probably benign
IGL02085:Pcdh19 APN X 133681258 nonsense probably null
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
Posted On2015-04-16