Incidental Mutation 'R8196:Jph2'
ID 635434
Institutional Source Beutler Lab
Gene Symbol Jph2
Ensembl Gene ENSMUSG00000017817
Gene Name junctophilin 2
Synonyms 1110002E14Rik, JP-2
MMRRC Submission 067619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8196 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 163178162-163239913 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 163180621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]
AlphaFold Q9ET78
Predicted Effect probably null
Transcript: ENSMUST00000017961
SMART Domains Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817

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 null
Transcript: ENSMUST00000109425
SMART Domains Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b T A 19: 21,656,024 (GRCm39) V102D probably damaging Het
Adam6b T A 12: 113,454,087 (GRCm39) D301E probably benign Het
Adnp A C 2: 168,025,092 (GRCm39) D734E probably benign Het
Ank2 T A 3: 126,723,532 (GRCm39) T932S probably damaging Het
Arhgap20 C A 9: 51,760,277 (GRCm39) D709E possibly damaging Het
Atoh1 A G 6: 64,707,226 (GRCm39) D307G probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
B3galt1 A G 2: 67,948,530 (GRCm39) I82V probably benign Het
Chd2 T C 7: 73,118,285 (GRCm39) D1111G probably benign Het
Csmd1 T C 8: 16,059,468 (GRCm39) D2089G probably benign Het
Dach1 T A 14: 98,256,370 (GRCm39) H296L probably damaging Het
Dennd4b T G 3: 90,178,904 (GRCm39) L556R probably damaging Het
Dop1a T A 9: 86,405,151 (GRCm39) S326T probably benign Het
Eif2b5 T A 16: 20,321,306 (GRCm39) H286Q probably damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fn3k T A 11: 121,341,222 (GRCm39) F292L probably damaging Het
Gm1123 G A 9: 98,905,309 (GRCm39) A67V probably benign Het
Hey2 C T 10: 30,710,273 (GRCm39) C160Y probably benign Het
Lars1 A G 18: 42,343,166 (GRCm39) S1084P possibly damaging Het
Macf1 T C 4: 123,276,497 (GRCm39) D6084G probably damaging Het
Mdfic G T 6: 15,740,989 (GRCm39) A115S probably benign Het
Mki67 T C 7: 135,297,237 (GRCm39) E2599G probably damaging Het
Mtus1 A G 8: 41,509,689 (GRCm39) S131P probably benign Het
Muc16 G T 9: 18,556,630 (GRCm39) T3221K unknown Het
Or1q1 T A 2: 36,886,873 (GRCm39) I17N possibly damaging Het
Or8b3 A G 9: 38,314,904 (GRCm39) S245G probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pdgfc A G 3: 80,944,811 (GRCm39) E23G possibly damaging Het
Pfkp T C 13: 6,655,698 (GRCm39) T312A probably benign Het
Pxn A G 5: 115,683,768 (GRCm39) E200G probably damaging Het
Rai1 C T 11: 60,076,796 (GRCm39) H287Y probably damaging Het
Rap1gap G A 4: 137,445,275 (GRCm39) V319I probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Selp A T 1: 163,961,490 (GRCm39) D401V possibly damaging Het
Sh3bp5 A G 14: 31,139,399 (GRCm39) V58A probably benign Het
Shpk A T 11: 73,094,775 (GRCm39) I64F probably benign Het
Slmap A G 14: 26,189,646 (GRCm39) Y171H probably damaging Het
Tmem67 T C 4: 12,075,661 (GRCm39) T183A probably benign Het
Tyw1 G T 5: 130,328,862 (GRCm39) L549F probably damaging Het
Uhrf2 T A 19: 30,051,329 (GRCm39) M301K probably benign Het
Uvssa G A 5: 33,568,311 (GRCm39) V532I probably benign Het
Vmn2r113 A T 17: 23,176,938 (GRCm39) K574I probably damaging Het
Zfp52 A G 17: 21,782,156 (GRCm39) N668S 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
IGL02593:Jph2 APN 2 163,239,166 (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
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
Predicted Primers PCR Primer
(F):5'- TCACACCTGTACACTAGGGG -3'
(R):5'- GTGAATGATGCAGTTCCAGATG -3'

Sequencing Primer
(F):5'- GGTGGGCTTTACCTAGCAGC -3'
(R):5'- TCCAGATGGAAGATTGGGTTAATTAG -3'
Posted On 2020-07-13