Incidental Mutation 'R8756:Jsrp1'
ID 664177
Institutional Source Beutler Lab
Gene Symbol Jsrp1
Ensembl Gene ENSMUSG00000020216
Gene Name junctional sarcoplasmic reticulum protein 1
Synonyms JP-45, JP45, 2310032K21Rik, 2300003C06Rik
MMRRC Submission 068597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80644330-80649332 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 80647940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020435] [ENSMUST00000036016] [ENSMUST00000180438] [ENSMUST00000181039] [ENSMUST00000181945]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020435
SMART Domains Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
low complexity region 52 77 N/A INTRINSIC
Pfam:JSRP 79 138 1e-29 PFAM
low complexity region 145 158 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
low complexity region 205 230 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036016
SMART Domains Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
Pfam:AMH_N 75 439 3e-133 PFAM
TGFB 456 554 8.57e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180438
SMART Domains Protein: ENSMUSP00000137701
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
low complexity region 23 48 N/A INTRINSIC
Pfam:JSRP 49 78 3.2e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000181039
SMART Domains Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
low complexity region 92 117 N/A INTRINSIC
Pfam:JSRP 118 179 1e-31 PFAM
low complexity region 185 198 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
low complexity region 245 270 N/A INTRINSIC
low complexity region 313 324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181945
SMART Domains Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216

DomainStartEndE-ValueType
transmembrane domain 53 75 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr1 A T 6: 87,165,235 (GRCm39) S401T probably damaging Het
Armh1 T A 4: 117,094,861 (GRCm39) I60L probably benign Het
Atp8b5 T C 4: 43,342,439 (GRCm39) V370A probably damaging Het
Atraid T A 5: 31,211,385 (GRCm39) Y184N probably damaging Het
Cp G C 3: 20,059,736 (GRCm39) probably null Het
Crebbp A G 16: 3,903,767 (GRCm39) I1824T probably benign Het
Cyp2c65 A T 19: 39,049,552 (GRCm39) R27* probably null Het
Dtl T C 1: 191,271,371 (GRCm39) H725R probably benign Het
Dync1h1 G T 12: 110,583,261 (GRCm39) A453S probably benign Het
Fat3 T A 9: 16,287,885 (GRCm39) D546V probably damaging Het
Flt1 T C 5: 147,576,224 (GRCm39) T595A probably benign Het
Gtf2ird2 C T 5: 134,226,090 (GRCm39) P179S possibly damaging Het
Hoga1 A G 19: 42,048,716 (GRCm39) I145V probably benign Het
Igfn1 G T 1: 135,895,698 (GRCm39) Q1623K probably benign Het
Krt90 A C 15: 101,470,779 (GRCm39) probably null Het
Lrch3 T A 16: 32,808,810 (GRCm39) S514T probably benign Het
Mad2l1 T C 6: 66,512,569 (GRCm39) V20A probably damaging Het
Malrd1 T C 2: 15,757,706 (GRCm39) probably null Het
Matn2 A C 15: 34,423,876 (GRCm39) E578A possibly damaging Het
Myof A T 19: 37,928,400 (GRCm39) W1050R probably benign Het
Nemp1 T A 10: 127,528,845 (GRCm39) I183N probably benign Het
Nid1 A G 13: 13,683,386 (GRCm39) T1155A probably benign Het
Nsd1 T C 13: 55,461,506 (GRCm39) S2681P probably benign Het
Onecut3 C A 10: 80,349,750 (GRCm39) R415S probably damaging Het
Or2d2 T C 7: 106,728,019 (GRCm39) T194A probably benign Het
Or4s2 T A 2: 88,473,183 (GRCm39) V24E possibly damaging Het
Pclo T A 5: 14,764,398 (GRCm39) S1005R Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
R3hcc1l G A 19: 42,552,073 (GRCm39) V357M probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Serpinh1 A G 7: 98,996,359 (GRCm39) Y242H probably damaging Het
Slit2 G T 5: 48,459,829 (GRCm39) E1370* probably null Het
Sos2 C A 12: 69,695,310 (GRCm39) L142F probably damaging Het
Spag4 T C 2: 155,908,493 (GRCm39) L141P possibly damaging Het
Sun1 T C 5: 139,222,444 (GRCm39) L570P probably damaging Het
Tars2 A G 3: 95,648,672 (GRCm39) V662A probably benign Het
Tmem245 C A 4: 56,899,025 (GRCm39) probably null Het
Tpp2 T A 1: 43,999,295 (GRCm39) Y356* probably null Het
Trafd1 T C 5: 121,513,878 (GRCm39) E303G probably damaging Het
Trim71 T C 9: 114,342,605 (GRCm39) E559G possibly damaging Het
Ush2a T A 1: 188,644,141 (GRCm39) V4501E possibly damaging Het
Vegfa T C 17: 46,342,465 (GRCm39) T118A probably damaging Het
Vmn2r124 A T 17: 18,294,094 (GRCm39) H727L probably benign Het
Zdhhc2 T A 8: 40,920,551 (GRCm39) V270E probably damaging Het
Zfp112 T C 7: 23,824,997 (GRCm39) S326P probably benign Het
Zfp37 T C 4: 62,110,371 (GRCm39) D272G possibly damaging Het
Other mutations in Jsrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Jsrp1 APN 10 80,644,707 (GRCm39) missense probably benign
R0080:Jsrp1 UTSW 10 80,646,349 (GRCm39) missense probably benign
R2511:Jsrp1 UTSW 10 80,648,140 (GRCm39) missense probably benign 0.27
R3904:Jsrp1 UTSW 10 80,648,246 (GRCm39) start codon destroyed probably benign 0.14
R4282:Jsrp1 UTSW 10 80,646,190 (GRCm39) missense probably benign 0.00
R5366:Jsrp1 UTSW 10 80,646,030 (GRCm39) nonsense probably null
R7084:Jsrp1 UTSW 10 80,644,410 (GRCm39) missense possibly damaging 0.85
R7204:Jsrp1 UTSW 10 80,646,319 (GRCm39) missense probably benign
R7311:Jsrp1 UTSW 10 80,647,906 (GRCm39) missense probably benign
R7949:Jsrp1 UTSW 10 80,647,906 (GRCm39) missense probably benign
R9482:Jsrp1 UTSW 10 80,644,734 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- AAAGATTTGTAAGGCCTGTGGG -3'
(R):5'- GTACAGTGACTGAGGATCACC -3'

Sequencing Primer
(F):5'- AGGCTCAGAGTTCAGGATCATCC -3'
(R):5'- ACCTGGCAGATCTGGATTGGAATC -3'
Posted On 2021-03-08