Incidental Mutation 'R0332:Jph4'
ID 35948
Institutional Source Beutler Lab
Gene Symbol Jph4
Ensembl Gene ENSMUSG00000022208
Gene Name junctophilin 4
Synonyms JP-4, 9330157P13Rik, JPHL1
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R0332 (G1)
Quality Score 171
Status Validated
Chromosome 14
Chromosomal Location 55344283-55354392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55351467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 183 (E183G)
Ref Sequence ENSEMBL: ENSMUSP00000121893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000124493]
AlphaFold Q80WT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022819
AA Change: E183G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: E183G

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000124493
AA Change: E183G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: E183G

DomainStartEndE-ValueType
MORN 13 34 1.63e0 SMART
MORN 59 80 1.62e-1 SMART
MORN 104 125 4.76e-2 SMART
MORN 127 148 5.26e-4 SMART
low complexity region 170 180 N/A INTRINSIC
low complexity region 216 246 N/A INTRINSIC
MORN 280 301 1.37e-2 SMART
MORN 303 324 3.29e-5 SMART
low complexity region 367 406 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
low complexity region 528 553 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133954
Meta Mutation Damage Score 0.0673 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging Het
Other mutations in Jph4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0108:Jph4 UTSW 14 55,346,757 (GRCm39) missense probably benign 0.43
R0142:Jph4 UTSW 14 55,345,783 (GRCm39) missense probably benign 0.23
R1610:Jph4 UTSW 14 55,351,560 (GRCm39) missense probably damaging 0.99
R1829:Jph4 UTSW 14 55,352,368 (GRCm39) missense probably damaging 0.99
R1912:Jph4 UTSW 14 55,345,818 (GRCm39) missense probably benign 0.38
R2157:Jph4 UTSW 14 55,350,984 (GRCm39) missense probably benign 0.01
R4073:Jph4 UTSW 14 55,352,497 (GRCm39) missense probably benign 0.00
R4569:Jph4 UTSW 14 55,352,503 (GRCm39) missense probably damaging 0.96
R4796:Jph4 UTSW 14 55,347,165 (GRCm39) missense probably damaging 1.00
R6220:Jph4 UTSW 14 55,347,542 (GRCm39) missense probably benign 0.05
R7188:Jph4 UTSW 14 55,352,664 (GRCm39) missense probably damaging 0.99
R7314:Jph4 UTSW 14 55,347,196 (GRCm39) unclassified probably benign
R7814:Jph4 UTSW 14 55,347,192 (GRCm39) missense probably damaging 1.00
R8182:Jph4 UTSW 14 55,347,213 (GRCm39) missense possibly damaging 0.82
R8874:Jph4 UTSW 14 55,351,534 (GRCm39) missense possibly damaging 0.77
R9308:Jph4 UTSW 14 55,346,981 (GRCm39) missense probably damaging 1.00
R9456:Jph4 UTSW 14 55,351,090 (GRCm39) missense probably damaging 1.00
X0020:Jph4 UTSW 14 55,352,428 (GRCm39) missense probably damaging 1.00
X0061:Jph4 UTSW 14 55,351,068 (GRCm39) missense probably damaging 1.00
X0067:Jph4 UTSW 14 55,346,840 (GRCm39) missense probably benign 0.00
Z1176:Jph4 UTSW 14 55,351,105 (GRCm39) missense probably benign 0.04
Z1177:Jph4 UTSW 14 55,352,383 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATCTCTGGCTCACTCCATAGC -3'
(R):5'- GGGAGCCCACTGAAATGTTCTGAC -3'

Sequencing Primer
(F):5'- GCGTAGAGATCCCCTCTTG -3'
(R):5'- ACTGAAATGTTCTGACTCTTTCAC -3'
Posted On 2013-05-09