Incidental Mutation 'R2895:Pcdh19'
ID 260777
Institutional Source Beutler Lab
Gene Symbol Pcdh19
Ensembl Gene ENSMUSG00000051323
Gene Name protocadherin 19
Synonyms LOC279653, B530002L05Rik
MMRRC Submission 040483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R2895 (G1)
Quality Score 214
Status Not validated
Chromosome X
Chromosomal Location 132483609-132589736 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTGTCTCCTCCA to C at 132582057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060309] [ENSMUST00000149154] [ENSMUST00000167944]
AlphaFold Q80TF3
Predicted Effect probably null
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 null
Transcript: ENSMUST00000149154
SMART Domains Protein: ENSMUSP00000116886
Gene: ENSMUSG00000051323

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 null
Transcript: ENSMUST00000167944
SMART Domains Protein: ENSMUSP00000128313
Gene: ENSMUSG00000051323

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: ENSMUST00000193485
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,093,252 (GRCm39) V1007A probably benign Het
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Akirin1 T C 4: 123,631,864 (GRCm39) E168G probably damaging Het
Apol7e A T 15: 77,598,667 (GRCm39) D44V possibly damaging Het
Asic1 A G 15: 99,594,483 (GRCm39) I310V probably benign Het
Atp6v0a1 A G 11: 100,935,424 (GRCm39) H661R probably benign Het
Caskin1 A G 17: 24,708,016 (GRCm39) R25G probably damaging Het
Cd96 G T 16: 45,938,168 (GRCm39) T99K probably benign Het
Cep250 C A 2: 155,834,042 (GRCm39) A1989D probably benign Het
Clasp1 T G 1: 118,387,568 (GRCm39) V78G probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Col15a1 T C 4: 47,312,091 (GRCm39) V1302A possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyb5r4 C T 9: 86,922,452 (GRCm39) Q154* probably null Het
Dnah7b T C 1: 46,178,901 (GRCm39) F858S probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Igkv1-135 T A 6: 67,587,332 (GRCm39) S68T probably benign Het
Kmt2d G A 15: 98,741,820 (GRCm39) probably benign Het
Lonp1 A G 17: 56,922,562 (GRCm39) L688P probably damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Map3k19 T C 1: 127,749,835 (GRCm39) D968G possibly damaging Het
Med16 G A 10: 79,739,005 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrps7 A G 11: 115,495,865 (GRCm39) M98V probably benign Het
Ms4a14 A T 19: 11,281,595 (GRCm39) I321N possibly damaging Het
Muc5ac A G 7: 141,344,877 (GRCm39) D116G possibly damaging Het
Neu1 A G 17: 35,151,758 (GRCm39) D184G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Plcz1 A G 6: 139,968,877 (GRCm39) I187T possibly damaging Het
Pot1b A T 17: 55,994,939 (GRCm39) I241N probably damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Ptpre G A 7: 135,245,587 (GRCm39) W11* probably null Het
Rgsl1 T A 1: 153,703,294 (GRCm39) E154V probably damaging Het
Rnasel T C 1: 153,636,522 (GRCm39) I634T probably damaging Het
Scn10a A T 9: 119,490,467 (GRCm39) S492T probably benign Het
Sec24d T A 3: 123,136,800 (GRCm39) V511E probably damaging Het
Slc7a1 A G 5: 148,277,402 (GRCm39) I371T probably benign Het
Smg1 A G 7: 117,788,366 (GRCm39) probably benign Het
Sntg2 A T 12: 30,276,845 (GRCm39) S402R probably benign Het
Stfa3 C A 16: 36,272,522 (GRCm39) L59F probably benign Het
Tlr3 T C 8: 45,850,629 (GRCm39) E756G possibly damaging Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Other mutations in Pcdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Pcdh19 APN X 132,586,719 (GRCm39) missense probably benign
IGL02085:Pcdh19 APN X 132,582,007 (GRCm39) nonsense probably null
IGL02089:Pcdh19 APN X 132,489,245 (GRCm39) missense probably benign 0.45
R2895:Pcdh19 UTSW X 132,582,058 (GRCm39) frame shift probably null
R2896:Pcdh19 UTSW X 132,582,058 (GRCm39) frame shift probably null
Z1176:Pcdh19 UTSW X 132,582,841 (GRCm39) missense probably null 0.28
Z1177:Pcdh19 UTSW X 132,488,766 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGATCAGGTCTGGCTGCTG -3'
(R):5'- AACACGATGATGTAATGCGCC -3'

Sequencing Primer
(F):5'- CCCTGGCTGTTGAAGGAG -3'
(R):5'- CGATGATGTAATGCGCCAGAATAAG -3'
Posted On 2015-01-23