Incidental Mutation 'R8182:Jph4'
ID 634695
Institutional Source Beutler Lab
Gene Symbol Jph4
Ensembl Gene ENSMUSG00000022208
Gene Name junctophilin 4
Synonyms JP-4, 9330157P13Rik, JPHL1
MMRRC Submission 067606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R8182 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55344283-55354392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55347213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 445 (G445R)
Ref Sequence ENSEMBL: ENSMUSP00000022819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000151314] [ENSMUST00000170285]
AlphaFold Q80WT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022819
AA Change: G445R

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: G445R

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 probably benign
Transcript: ENSMUST00000036041
SMART Domains Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 2.7e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000124493
AA Change: G445R

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: G445R

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 probably benign
Transcript: ENSMUST00000127870
SMART Domains Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131323
SMART Domains Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151314
SMART Domains Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 197 5.7e-57 PFAM
low complexity region 222 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170285
SMART Domains Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701

DomainStartEndE-ValueType
Pfam:Adaptin_N 24 575 1.5e-149 PFAM
low complexity region 624 631 N/A INTRINSIC
Alpha_adaptinC2 668 786 5.73e-39 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (48/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 A G 8: 13,272,774 (GRCm39) V1328A probably benign Het
Akna T C 4: 63,313,034 (GRCm39) Y363C probably damaging Het
Aph1c A G 9: 66,740,549 (GRCm39) I59T possibly damaging Het
Bbs7 A T 3: 36,664,372 (GRCm39) F100I probably damaging Het
Cibar1 T C 4: 12,171,842 (GRCm39) H30R probably benign Het
Eef2k G A 7: 120,472,626 (GRCm39) R113Q probably damaging Het
Fam221b G A 4: 43,660,342 (GRCm39) R416C probably damaging Het
Fam98b C A 2: 117,080,302 (GRCm39) D18E probably damaging Het
Fat2 T A 11: 55,175,223 (GRCm39) Y1830F possibly damaging Het
Fbrsl1 T A 5: 110,526,861 (GRCm39) Q221L possibly damaging Het
Fbxo4 T C 15: 3,998,451 (GRCm39) R336G probably damaging Het
Fbxw15 A T 9: 109,384,778 (GRCm39) C341S probably benign Het
Fip1l1 T C 5: 74,748,813 (GRCm39) S398P probably damaging Het
Fsip2 A G 2: 82,806,951 (GRCm39) D1090G probably damaging Het
Fyb1 T A 15: 6,681,293 (GRCm39) M706K probably benign Het
Glg1 A T 8: 111,897,929 (GRCm39) F747I possibly damaging Het
Gm8257 A G 14: 44,887,623 (GRCm39) L254P probably benign Het
Hnf4g T C 3: 3,716,679 (GRCm39) Y283H possibly damaging Het
Irx6 C A 8: 93,403,642 (GRCm39) Y122* probably null Het
Kif16b G T 2: 142,554,819 (GRCm39) R660S possibly damaging Het
Kif21a C T 15: 90,819,964 (GRCm39) G1556D possibly damaging Het
Kif3a T A 11: 53,485,133 (GRCm39) Y531* probably null Het
Lrp2 T C 2: 69,319,673 (GRCm39) D1950G probably damaging Het
Med23 T G 10: 24,788,705 (GRCm39) S1371A probably benign Het
Mef2a T A 7: 66,917,875 (GRCm39) E112D probably benign Het
Mxra8 C G 4: 155,925,589 (GRCm39) Y99* probably null Het
Nbeal1 A G 1: 60,239,292 (GRCm39) T112A probably benign Het
Or8b49 G A 9: 38,505,840 (GRCm39) V108I probably benign Het
Pclo G A 5: 14,905,634 (GRCm39) E4955K unknown Het
Poc1b T C 10: 98,991,005 (GRCm39) probably null Het
Ptbp2 A G 3: 119,534,078 (GRCm39) Y264H probably damaging Het
Rhobtb2 A G 14: 70,034,070 (GRCm39) V385A probably benign Het
Rlf G A 4: 121,008,102 (GRCm39) P403S possibly damaging Het
Rnase9 T C 14: 51,276,537 (GRCm39) N147S probably benign Het
Serpinb9f A G 13: 33,518,603 (GRCm39) I368V probably benign Het
Slc1a1 A T 19: 28,878,848 (GRCm39) T196S probably benign Het
Smarca2 A G 19: 26,608,120 (GRCm39) S60G probably benign Het
Tbc1d4 A T 14: 101,744,990 (GRCm39) V212E probably damaging Het
Thap12 T A 7: 98,365,584 (GRCm39) I584N probably damaging Het
Ube3b T A 5: 114,530,199 (GRCm39) N195K possibly damaging Het
Upk3b T C 5: 136,067,982 (GRCm39) C58R probably damaging Het
Ush1c A G 7: 45,847,775 (GRCm39) probably null Het
Vmn1r60 T C 7: 5,547,876 (GRCm39) T75A Het
Vmn2r77 T A 7: 86,460,801 (GRCm39) L709H probably damaging Het
Wdcp T C 12: 4,901,850 (GRCm39) S569P probably damaging Het
Zfp418 A T 7: 7,184,658 (GRCm39) N207I probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp808 G A 13: 62,319,521 (GRCm39) C250Y 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
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
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'- TAGCCAGCTAGTTCCTCTGC -3'
(R):5'- GGTGTCTTGGAGGTAGAACC -3'

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