Incidental Mutation 'IGL02593:Jph2'
ID 299778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jph2
Ensembl Gene ENSMUSG00000017817
Gene Name junctophilin 2
Synonyms 1110002E14Rik, JP-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02593
Quality Score
Status
Chromosome 2
Chromosomal Location 163178162-163239913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163239166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 94 (Y94C)
Ref Sequence ENSEMBL: ENSMUSP00000105052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]
AlphaFold Q9ET78
Predicted Effect probably damaging
Transcript: ENSMUST00000017961
AA Change: Y94C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: Y94C

DomainStartEndE-ValueType
MORN 12 33 7.12e0 SMART
MORN 58 79 3.01e0 SMART
Pfam:MORN 82 103 1.2e-2 PFAM
MORN 104 125 4.99e-5 SMART
MORN 127 148 3.67e-3 SMART
low complexity region 153 168 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
low complexity region 212 234 N/A INTRINSIC
low complexity region 246 279 N/A INTRINSIC
MORN 283 304 3.61e-2 SMART
MORN 306 327 6.23e-6 SMART
low complexity region 367 382 N/A INTRINSIC
low complexity region 388 402 N/A INTRINSIC
low complexity region 432 448 N/A INTRINSIC
low complexity region 473 487 N/A INTRINSIC
low complexity region 568 587 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
low complexity region 656 671 N/A INTRINSIC
transmembrane domain 673 695 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109425
AA Change: Y94C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: Y94C

DomainStartEndE-ValueType
MORN 12 33 7.12e0 SMART
MORN 58 79 3.01e0 SMART
MORN 104 125 4.99e-5 SMART
MORN 127 148 3.67e-3 SMART
low complexity region 153 168 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
low complexity region 212 234 N/A INTRINSIC
low complexity region 246 279 N/A INTRINSIC
MORN 283 304 3.61e-2 SMART
MORN 306 327 6.23e-6 SMART
low complexity region 367 382 N/A INTRINSIC
low complexity region 388 402 N/A INTRINSIC
low complexity region 432 448 N/A INTRINSIC
low complexity region 473 487 N/A INTRINSIC
low complexity region 568 587 N/A INTRINSIC
low complexity region 588 612 N/A INTRINSIC
low complexity region 656 671 N/A INTRINSIC
transmembrane domain 673 695 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg G T 16: 22,711,078 (GRCm39) probably null Het
Bbs4 C T 9: 59,235,880 (GRCm39) D232N probably damaging Het
Cdh23 A T 10: 60,301,774 (GRCm39) probably benign Het
Cntn5 T C 9: 9,833,504 (GRCm39) N554S probably damaging Het
Fn1 T C 1: 71,641,591 (GRCm39) I1652V probably benign Het
Golga4 T C 9: 118,384,634 (GRCm39) probably benign Het
Idh3a T A 9: 54,503,477 (GRCm39) probably benign Het
Lnx2 A G 5: 146,969,825 (GRCm39) S238P possibly damaging Het
Loxhd1 A G 18: 77,498,235 (GRCm39) I56V possibly damaging Het
Myo9b A C 8: 71,743,417 (GRCm39) E159D probably damaging Het
Nkiras1 A G 14: 18,278,475 (GRCm38) N63S possibly damaging Het
Nnmt A G 9: 48,516,103 (GRCm39) probably null Het
Or13a22 G A 7: 140,073,244 (GRCm39) R231H probably benign Het
P2ry10 T C X: 106,146,302 (GRCm39) I79T possibly damaging Het
Padi2 A G 4: 140,677,153 (GRCm39) H647R probably damaging Het
Pate10 T A 9: 35,653,438 (GRCm39) C81S possibly damaging Het
Ptchd4 A G 17: 42,628,037 (GRCm39) D166G probably benign Het
Scml2 T C X: 159,970,305 (GRCm39) V125A probably benign Het
Senp2 A G 16: 21,863,021 (GRCm39) D556G probably damaging Het
Serpina3a G T 12: 104,084,691 (GRCm39) V29L probably benign Het
Sgcz A T 8: 37,990,432 (GRCm39) I307N probably damaging Het
Slc25a13 C T 6: 6,042,265 (GRCm39) V638I probably benign Het
Snx7 G A 3: 117,633,609 (GRCm39) L84F probably damaging Het
Ticrr A G 7: 79,345,214 (GRCm39) D1693G probably damaging Het
Tm9sf5 G A X: 56,467,320 (GRCm39) D245N probably benign Het
Vmn2r7 C T 3: 64,600,443 (GRCm39) C485Y probably damaging Het
Vmn2r-ps129 C T 17: 23,211,770 (GRCm39) noncoding transcript Het
Zfyve9 A G 4: 108,539,420 (GRCm39) V951A possibly damaging Het
Other mutations in Jph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Jph2 APN 2 163,181,847 (GRCm39) missense probably benign 0.07
IGL02314:Jph2 APN 2 163,239,273 (GRCm39) missense probably damaging 1.00
IGL02565:Jph2 APN 2 163,239,265 (GRCm39) missense probably damaging 1.00
IGL02713:Jph2 APN 2 163,217,837 (GRCm39) missense probably damaging 1.00
IGL02742:Jph2 APN 2 163,217,699 (GRCm39) missense probably damaging 1.00
R1479:Jph2 UTSW 2 163,181,191 (GRCm39) missense possibly damaging 0.62
R2069:Jph2 UTSW 2 163,181,605 (GRCm39) missense possibly damaging 0.81
R3848:Jph2 UTSW 2 163,181,332 (GRCm39) missense probably benign 0.22
R4961:Jph2 UTSW 2 163,217,668 (GRCm39) missense probably damaging 1.00
R6084:Jph2 UTSW 2 163,217,600 (GRCm39) missense probably damaging 1.00
R6377:Jph2 UTSW 2 163,181,632 (GRCm39) missense probably benign
R6667:Jph2 UTSW 2 163,218,206 (GRCm39) missense probably damaging 1.00
R6874:Jph2 UTSW 2 163,181,407 (GRCm39) missense probably benign 0.24
R7112:Jph2 UTSW 2 163,217,704 (GRCm39) missense probably damaging 1.00
R7874:Jph2 UTSW 2 163,217,762 (GRCm39) missense probably damaging 1.00
R8109:Jph2 UTSW 2 163,181,206 (GRCm39) missense probably benign 0.00
R8196:Jph2 UTSW 2 163,180,621 (GRCm39) critical splice acceptor site probably null
R8802:Jph2 UTSW 2 163,239,184 (GRCm39) missense probably damaging 1.00
R9098:Jph2 UTSW 2 163,181,473 (GRCm39) missense probably damaging 1.00
R9228:Jph2 UTSW 2 163,180,606 (GRCm39) missense probably benign 0.11
R9274:Jph2 UTSW 2 163,239,547 (GRCm39) start gained probably benign
Z1088:Jph2 UTSW 2 163,239,252 (GRCm39) missense possibly damaging 0.94
Z1177:Jph2 UTSW 2 163,218,297 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16