Incidental Mutation 'R8874:Jph4'
ID 676490
Institutional Source Beutler Lab
Gene Symbol Jph4
Ensembl Gene ENSMUSG00000022208
Gene Name junctophilin 4
Synonyms JP-4, 9330157P13Rik, JPHL1
MMRRC Submission 068744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R8874 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55344283-55354392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55351534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
Ref Sequence ENSEMBL: ENSMUSP00000022819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000124493]
AlphaFold Q80WT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022819
AA Change: T161A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: T161A

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: T161A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: T161A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,875,671 (GRCm39) M615V possibly damaging Het
Bud31 T C 5: 145,079,379 (GRCm39) probably null Het
Calhm4 A G 10: 33,920,264 (GRCm39) M1T probably null Het
Ccdc42 A G 11: 68,485,396 (GRCm39) K105E probably damaging Het
Cenpq A G 17: 41,242,551 (GRCm39) S93P probably damaging Het
Cfh A G 1: 140,014,159 (GRCm39) F1222L probably damaging Het
Cpxm2 A T 7: 131,708,010 (GRCm39) probably null Het
Cubn T C 2: 13,365,157 (GRCm39) D1627G possibly damaging Het
Diras2 T C 13: 52,661,737 (GRCm39) E190G possibly damaging Het
Dpyd G C 3: 118,792,981 (GRCm39) A563P probably damaging Het
Efcab8 T A 2: 153,640,569 (GRCm39) N343K Het
Gbp2b A G 3: 142,314,040 (GRCm39) E440G probably benign Het
Ghrhr T C 6: 55,355,891 (GRCm39) F30L probably benign Het
Gm3404 T A 5: 146,464,953 (GRCm39) V231E possibly damaging Het
Gramd4 A G 15: 85,985,093 (GRCm39) H143R probably damaging Het
Greb1l A T 18: 10,544,896 (GRCm39) E1408V probably benign Het
Hdgfl1 T G 13: 26,954,007 (GRCm39) Y22S probably damaging Het
Heatr1 T A 13: 12,445,793 (GRCm39) V1590D probably damaging Het
Hecw2 A T 1: 53,943,608 (GRCm39) probably benign Het
Igkv8-30 C A 6: 70,094,150 (GRCm39) R87L probably damaging Het
Il18rap T A 1: 40,564,506 (GRCm39) C179S probably damaging Het
Itprid2 A G 2: 79,487,684 (GRCm39) K589R probably benign Het
Klhdc7a A T 4: 139,694,896 (GRCm39) M17K probably damaging Het
Kpnb1 T C 11: 97,056,209 (GRCm39) N699S probably benign Het
Lama3 T C 18: 12,582,643 (GRCm39) probably null Het
Lca5 A G 9: 83,277,503 (GRCm39) F614L probably damaging Het
Lyst T C 13: 13,812,147 (GRCm39) V853A probably benign Het
Map2 A T 1: 66,455,523 (GRCm39) T1406S probably damaging Het
Med23 A G 10: 24,771,617 (GRCm39) I552V possibly damaging Het
Myo1h A T 5: 114,472,163 (GRCm39) I414L Het
Myom1 A G 17: 71,413,199 (GRCm39) K1271E probably damaging Het
Or14j5 A T 17: 38,161,675 (GRCm39) K64M probably damaging Het
Or2n1b T A 17: 38,459,623 (GRCm39) V48E possibly damaging Het
Or7e177 T C 9: 20,212,069 (GRCm39) F192S possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prdm2 A T 4: 142,859,785 (GRCm39) D1168E possibly damaging Het
Prr5 T C 15: 84,583,916 (GRCm39) M181T probably damaging Het
Ptpdc1 A G 13: 48,744,168 (GRCm39) I151T probably damaging Het
Ptpn7 T C 1: 135,067,004 (GRCm39) V287A possibly damaging Het
Ptprz1 T C 6: 23,042,747 (GRCm39) V2057A Het
Rad17 G T 13: 100,754,327 (GRCm39) A631E probably benign Het
Sf3a2 ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT 10: 80,640,271 (GRCm39) probably benign Het
Slc22a2 A T 17: 12,828,866 (GRCm39) D324V probably benign Het
Strc C T 2: 121,205,353 (GRCm39) probably null Het
Taf4b T G 18: 14,963,127 (GRCm39) D622E probably benign Het
Tgfbrap1 A C 1: 43,114,973 (GRCm39) N42K probably benign Het
Uvrag A G 7: 98,628,943 (GRCm39) F375L probably benign Het
Vmn2r76 A G 7: 85,877,999 (GRCm39) I466T probably damaging Het
Vmn2r8 T C 5: 108,956,617 (GRCm39) K2E probably damaging Het
Vps13d T C 4: 144,881,772 (GRCm39) T1274A Het
Vwa3b C T 1: 37,074,839 (GRCm39) A2V possibly damaging Het
Ylpm1 T C 12: 85,116,394 (GRCm39) V2092A probably damaging Het
Zfp638 T C 6: 83,946,135 (GRCm39) S1055P probably damaging Het
Zzef1 A G 11: 72,754,815 (GRCm39) T982A probably benign 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
R0332:Jph4 UTSW 14 55,351,467 (GRCm39) missense possibly damaging 0.61
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
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'- AAGAATCCACCTGCTGCTG -3'
(R):5'- GAAGCCTGGCCTGTTCTTTC -3'

Sequencing Primer
(F):5'- CTGCTGGGGTGCGCTTAC -3'
(R):5'- CTGTCACTTGAGCTTCCAAGGG -3'
Posted On 2021-07-15