Incidental Mutation 'R1479:Jph2'
ID164178
Institutional Source Beutler Lab
Gene Symbol Jph2
Ensembl Gene ENSMUSG00000017817
Gene Namejunctophilin 2
Synonyms1110002E14Rik, JP-2
MMRRC Submission 039532-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1479 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location163336242-163397993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 163339271 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 658 (V658M)
Ref Sequence ENSEMBL: ENSMUSP00000105052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017961
AA Change: V658M

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: V658M

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 possibly damaging
Transcript: ENSMUST00000109425
AA Change: V658M

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: V658M

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
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T A 12: 55,379,387 D138E probably damaging Het
1700022I11Rik A C 4: 42,972,543 K625N possibly damaging Het
2310030G06Rik T A 9: 50,741,301 T58S possibly damaging Het
4930432K21Rik C A 8: 84,162,397 T123K possibly damaging Het
Alox12e A G 11: 70,320,782 V252A probably benign Het
Anks6 T C 4: 47,044,874 D344G probably damaging Het
Atg14 A T 14: 47,547,239 probably null Het
BC052040 T A 2: 115,639,013 N74K probably benign Het
Bcr G T 10: 75,061,125 E34* probably null Het
Birc6 C T 17: 74,634,853 T2728M probably damaging Het
Bmp2k T A 5: 97,053,200 N326K probably benign Het
Ccdc188 A C 16: 18,219,290 T242P possibly damaging Het
Chsy3 A T 18: 59,408,913 E374D probably benign Het
Clca4b A T 3: 144,915,468 V615E probably damaging Het
Clcnka C A 4: 141,389,447 A498S possibly damaging Het
Csmd3 A G 15: 47,857,886 C1450R probably damaging Het
Cul7 C A 17: 46,651,747 D101E probably damaging Het
Cyp27b1 G A 10: 127,051,711 probably null Het
Cyp2d22 A G 15: 82,371,936 S404P probably damaging Het
Dclk3 G A 9: 111,468,546 S386N probably benign Het
Dnah10 G A 5: 124,777,889 D1953N possibly damaging Het
Dst T A 1: 34,264,515 probably null Het
Egfem1 A G 3: 29,657,165 N241D probably damaging Het
Entpd7 T C 19: 43,721,840 F312S probably damaging Het
Esp34 T A 17: 38,554,328 probably benign Het
Fam126b T A 1: 58,552,268 R91* probably null Het
Foxd2 T A 4: 114,907,918 T302S unknown Het
Fzd6 A T 15: 39,030,999 N187Y probably damaging Het
Gbp9 C T 5: 105,094,064 probably benign Het
Gm11492 G T 11: 87,567,418 R206L probably damaging Het
Gna14 T C 19: 16,533,769 S61P possibly damaging Het
Grap A T 11: 61,660,298 Y52F probably benign Het
H2-T3 T C 17: 36,189,428 Y125C probably damaging Het
Hax1 C A 3: 89,995,857 E212D probably damaging Het
Hecw1 A C 13: 14,316,492 S638R probably benign Het
Hira A T 16: 18,896,469 K39M probably damaging Het
Hoxa2 T A 6: 52,163,340 D222V probably damaging Het
Kansl1 A T 11: 104,342,416 S762T probably damaging Het
Kat6b T A 14: 21,618,956 C267S probably benign Het
Klk6 A G 7: 43,831,634 N250S probably benign Het
Lbp T C 2: 158,319,714 L232S probably damaging Het
Lcn9 A T 2: 25,823,703 probably benign Het
Lcp2 A G 11: 34,075,068 H213R probably benign Het
Lrrc9 A T 12: 72,460,825 K367* probably null Het
Lyst A G 13: 13,634,482 I246V probably benign Het
Megf6 G T 4: 154,177,121 V68L probably benign Het
Mst1r T C 9: 107,913,345 probably benign Het
Myo18a A G 11: 77,842,194 E909G probably benign Het
Nipbl A T 15: 8,350,289 D1006E probably benign Het
Olfr1164 A G 2: 88,093,286 F217L probably benign Het
Olfr729 C A 14: 50,148,788 V29F probably benign Het
Olfr933 A T 9: 38,975,762 I29F probably benign Het
Otog A G 7: 46,295,978 I2220V possibly damaging Het
Pcx T A 19: 4,602,024 I99N probably damaging Het
Pi4ka C T 16: 17,373,400 G211D probably benign Het
Pp2d1 T C 17: 53,507,855 S614G probably benign Het
Prdx6 G A 1: 161,244,263 A111V probably damaging Het
Prss51 G A 14: 64,096,170 probably null Het
Psmd6 C T 14: 14,116,819 probably benign Het
Pten T A 19: 32,819,850 L345Q probably damaging Het
Qrich2 T G 11: 116,441,485 H2295P probably benign Het
Rgs11 T C 17: 26,208,283 probably null Het
Rgs6 A G 12: 83,116,244 E408G probably damaging Het
Slc38a7 T C 8: 95,848,494 T53A probably benign Het
Sptbn1 A G 11: 30,113,909 C1957R probably damaging Het
Sumf1 T C 6: 108,176,058 Y123C probably damaging Het
Tnrc6b T A 15: 80,887,032 probably null Het
Ttc21a C A 9: 119,956,947 D670E probably benign Het
Ttn A G 2: 76,744,511 V25346A probably damaging Het
Ubr4 A G 4: 139,425,840 T2070A possibly damaging Het
Vmn2r57 C A 7: 41,427,830 W304L possibly damaging Het
Vps13a T C 19: 16,750,114 probably benign Het
Wisp3 G A 10: 39,153,243 R230W probably damaging Het
Zfp647 A G 15: 76,911,203 V419A 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
IGL02742:Jph2 APN 2 163375779 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGTCTACAGCTCAGGCTCGCAG -3'
(R):5'- AGCCCGAGGTAGCAATGTACCG -3'

Sequencing Primer
(F):5'- AGGCTCGCAGTTTGCCC -3'
(R):5'- TACCATAGCTACGCCGTGC -3'
Posted On2014-03-28