Incidental Mutation 'IGL02976:Jph3'
ID406409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jph3
Ensembl Gene ENSMUSG00000025318
Gene Namejunctophilin 3
SynonymsJP-3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL02976
Quality Score
Status
Chromosome8
Chromosomal Location121729623-121794276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121753084 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 167 (L167Q)
Ref Sequence ENSEMBL: ENSMUSP00000126190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026357] [ENSMUST00000127664] [ENSMUST00000167439]
Predicted Effect probably damaging
Transcript: ENSMUST00000026357
AA Change: L167Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: L167Q

DomainStartEndE-ValueType
MORN 13 34 8.01e-1 SMART
MORN 37 57 6.13e1 SMART
MORN 59 80 2.99e-1 SMART
Pfam:MORN 83 104 5.9e-2 PFAM
MORN 105 126 8.1e-5 SMART
MORN 128 149 2.74e-2 SMART
low complexity region 181 192 N/A INTRINSIC
low complexity region 212 244 N/A INTRINSIC
MORN 286 307 2.78e-3 SMART
MORN 309 330 1.03e-6 SMART
low complexity region 360 381 N/A INTRINSIC
low complexity region 393 409 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
transmembrane domain 721 743 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167439
AA Change: L167Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: L167Q

DomainStartEndE-ValueType
MORN 13 34 8.01e-1 SMART
MORN 37 57 6.13e1 SMART
MORN 59 80 2.99e-1 SMART
Pfam:MORN 83 104 5.8e-2 PFAM
MORN 105 126 8.1e-5 SMART
MORN 128 149 2.74e-2 SMART
low complexity region 181 192 N/A INTRINSIC
low complexity region 212 244 N/A INTRINSIC
MORN 286 307 2.78e-3 SMART
MORN 309 330 1.03e-6 SMART
low complexity region 360 381 N/A INTRINSIC
low complexity region 393 409 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
transmembrane domain 721 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172209
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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A T 19: 58,789,120 V78E probably benign Het
9630041A04Rik A G 9: 101,939,646 T84A possibly damaging Het
Adgrd1 T A 5: 129,131,597 S288T probably benign Het
Ano7 T A 1: 93,402,673 D806E possibly damaging Het
Arl6 A G 16: 59,623,896 L79P probably damaging Het
Card6 A T 15: 5,099,828 C695* probably null Het
Carmil1 T C 13: 24,092,551 N610S possibly damaging Het
Cdc40 A G 10: 40,882,921 V52A probably benign Het
Chd4 G A 6: 125,121,368 R369H probably damaging Het
Clasp2 C T 9: 113,906,136 P1031L probably damaging Het
Cldn34d C T X: 76,583,084 A121T probably benign Het
Clmp A C 9: 40,781,224 Y263S possibly damaging Het
Cntn5 A G 9: 10,419,099 probably benign Het
Folh1 A T 7: 86,762,918 M215K probably benign Het
Fut1 C T 7: 45,619,320 R233C probably damaging Het
Gcdh A C 8: 84,888,578 Y398D probably damaging Het
Gm26741 T G 10: 52,358,814 S16R possibly damaging Het
Jup A G 11: 100,378,366 V407A probably benign Het
Kif17 C T 4: 138,269,063 A117V probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Magi2 C T 5: 20,534,475 P349S probably damaging Het
Mlycd T C 8: 119,401,485 M177T possibly damaging Het
Mocos A G 18: 24,666,569 K287E possibly damaging Het
Morc2b T A 17: 33,137,523 H425L possibly damaging Het
Mrpl9 T A 3: 94,447,777 probably benign Het
Myo3a G A 2: 22,542,452 W825* probably null Het
Npas2 T C 1: 39,287,484 S17P probably damaging Het
Nrk A G X: 138,992,068 I1174V probably benign Het
Olfr1423 A T 19: 12,035,973 Y256* probably null Het
Olfr392 A G 11: 73,814,317 I255T probably damaging Het
Olfr730 G A 14: 50,186,432 Q262* probably null Het
Parpbp A G 10: 88,111,594 probably null Het
Pcdh10 T C 3: 45,380,013 V254A possibly damaging Het
Plod1 C T 4: 147,913,321 V644I probably damaging Het
Ptpn1 T C 2: 167,971,784 V149A probably benign Het
Rassf4 T C 6: 116,638,248 E320G probably damaging Het
Rgl2 T A 17: 33,933,962 D448E possibly damaging Het
Rnf32 C T 5: 29,206,712 probably null Het
Rpa1 T A 11: 75,312,802 D358V probably damaging Het
Sdk2 T C 11: 113,851,842 N747S probably damaging Het
Slc17a4 A C 13: 23,905,424 M170R probably damaging Het
Slc5a4a G A 10: 76,170,693 V310M possibly damaging Het
Spag9 G A 11: 94,083,953 R463H probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt10 A G 15: 89,814,479 S221P probably benign Het
Tlk1 T A 2: 70,721,591 K579* probably null Het
Tubgcp3 T C 8: 12,632,300 Y673C probably damaging Het
Vmn1r223 T C 13: 23,249,995 F253S probably damaging Het
Vmn2r83 T C 10: 79,468,998 M14T probably benign Het
Zfp59 A G 7: 27,853,396 D91G probably benign Het
Other mutations in Jph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0142:Jph3 UTSW 8 121753371 missense possibly damaging 0.84
R0200:Jph3 UTSW 8 121784833 missense probably benign 0.36
R0238:Jph3 UTSW 8 121753720 missense possibly damaging 0.83
R0238:Jph3 UTSW 8 121753720 missense possibly damaging 0.83
R1550:Jph3 UTSW 8 121784859 missense possibly damaging 0.74
R2127:Jph3 UTSW 8 121785142 missense probably benign 0.09
R2160:Jph3 UTSW 8 121753231 missense possibly damaging 0.50
R3901:Jph3 UTSW 8 121753419 missense possibly damaging 0.64
R3902:Jph3 UTSW 8 121753419 missense possibly damaging 0.64
R5126:Jph3 UTSW 8 121753048 missense possibly damaging 0.70
R6073:Jph3 UTSW 8 121753552 missense probably damaging 1.00
R6130:Jph3 UTSW 8 121753087 missense probably damaging 0.98
R6794:Jph3 UTSW 8 121785385 missense probably benign 0.10
R6923:Jph3 UTSW 8 121753371 missense possibly damaging 0.84
R7337:Jph3 UTSW 8 121753702 missense probably benign 0.03
Posted On2016-08-02