Incidental Mutation 'R2896:Pcdh19'
ID 260810
Institutional Source Beutler Lab
Gene Symbol Pcdh19
Ensembl Gene ENSMUSG00000051323
Gene Name protocadherin 19
Synonyms LOC279653, B530002L05Rik
MMRRC Submission 040484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R2896 (G1)
Quality Score 214
Status Validated
Chromosome X
Chromosomal Location 132483609-132589736 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGTCTCCTCCACGTC to TGTC at 132582058 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 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Bpifb4 T G 2: 153,796,357 (GRCm39) probably benign Het
Cachd1 T A 4: 100,828,100 (GRCm39) L616Q probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Crebbp A G 16: 3,956,680 (GRCm39) L381P probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Esp6 T A 17: 40,873,834 (GRCm39) M7K possibly damaging Het
Fam83d G A 2: 158,627,898 (GRCm39) R529Q probably damaging Het
Gm26526 T G 7: 39,238,437 (GRCm39) noncoding transcript Het
Gm8374 T A 14: 18,537,084 (GRCm39) R47* probably null Het
Gss A G 2: 155,406,749 (GRCm39) L342P probably damaging Het
Ighv1-67 T A 12: 115,567,595 (GRCm39) T106S probably damaging Het
Kif21b T C 1: 136,081,955 (GRCm39) Y668H possibly damaging Het
Lcmt1 A G 7: 123,020,809 (GRCm39) R245G possibly damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pdcl A T 2: 37,245,702 (GRCm39) D100E possibly damaging Het
Phkg1 C A 5: 129,893,471 (GRCm39) K326N possibly damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Prss1 G A 6: 41,440,639 (GRCm39) W238* probably null Het
Rdh10 A T 1: 16,176,329 (GRCm39) probably null Het
Ror1 T C 4: 99,953,477 (GRCm39) L21P unknown Het
Skint8 A G 4: 111,807,333 (GRCm39) I340V probably null Het
Spata18 T C 5: 73,815,145 (GRCm39) S85P probably damaging Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Ttll3 G T 6: 113,369,683 (GRCm39) A76S probably benign Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Ubn1 A G 16: 4,873,083 (GRCm39) H35R possibly damaging Het
Ubr4 A G 4: 139,182,955 (GRCm39) probably null Het
Zfp456 T C 13: 67,515,416 (GRCm39) R97G 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
R2895:Pcdh19 UTSW X 132,582,057 (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'- ACACGATGATGTAATGCGCC -3'

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