Incidental Mutation 'IGL02713:Jph2'
ID304639
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 #IGL02713
Quality Score
Status
Chromosome2
Chromosomal Location163336242-163397993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 163375917 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 280 (T280A)
Ref Sequence ENSEMBL: ENSMUSP00000105052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]
Predicted Effect probably damaging
Transcript: ENSMUST00000017961
AA Change: T280A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: T280A

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: T280A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: T280A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp26c1 C T 19: 37,693,219 T490M probably damaging Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Esp4 T C 17: 40,602,406 F55L probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Ggt1 T C 10: 75,574,344 Y37H probably damaging Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr518 G A 7: 108,880,853 T251I probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Orc6 A G 8: 85,307,586 E146G probably benign Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably 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
IGL02742:Jph2 APN 2 163375779 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
R6874:Jph2 UTSW 2 163339487 missense probably benign 0.24
Z1088:Jph2 UTSW 2 163397332 missense possibly damaging 0.94
Posted On2015-04-16