Incidental Mutation 'IGL02742:Jph2'
ID305939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jph2
Ensembl Gene ENSMUSG00000017817
Gene Namejunctophilin 2
Synonyms1110002E14Rik, JP-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02742
Quality Score
Status
Chromosome2
Chromosomal Location163336242-163397993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 163375779 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 326 (P326S)
Ref Sequence ENSEMBL: ENSMUSP00000105052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]
Predicted Effect probably damaging
Transcript: ENSMUST00000017961
AA Change: P326S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: P326S

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: P326S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: P326S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Jph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Jph2 APN 2 163339927 missense probably benign 0.07
IGL02314:Jph2 APN 2 163397353 missense probably damaging 1.00
IGL02565:Jph2 APN 2 163397345 missense probably damaging 1.00
IGL02593:Jph2 APN 2 163397246 missense probably damaging 1.00
IGL02713:Jph2 APN 2 163375917 missense probably damaging 1.00
R1479:Jph2 UTSW 2 163339271 missense possibly damaging 0.62
R2069:Jph2 UTSW 2 163339685 missense possibly damaging 0.81
R3848:Jph2 UTSW 2 163339412 missense probably benign 0.22
R4961:Jph2 UTSW 2 163375748 missense probably damaging 1.00
R6084:Jph2 UTSW 2 163375680 missense probably damaging 1.00
R6377:Jph2 UTSW 2 163339712 missense probably benign
R6667:Jph2 UTSW 2 163376286 missense probably damaging 1.00
R6874:Jph2 UTSW 2 163339487 missense probably benign 0.24
R7112:Jph2 UTSW 2 163375784 missense probably damaging 1.00
R7874:Jph2 UTSW 2 163375842 missense probably damaging 1.00
R8109:Jph2 UTSW 2 163339286 missense probably benign 0.00
R8196:Jph2 UTSW 2 163338701 critical splice acceptor site probably null
R8802:Jph2 UTSW 2 163397264 missense probably damaging 1.00
Z1088:Jph2 UTSW 2 163397332 missense possibly damaging 0.94
Z1177:Jph2 UTSW 2 163376377 critical splice acceptor site probably null
Posted On2015-04-16