Incidental Mutation 'R1187:Sri'
ID 102236
Institutional Source Beutler Lab
Gene Symbol Sri
Ensembl Gene ENSMUSG00000003161
Gene Name sorcin
Synonyms Sor, 2210417O06Rik, 2900070H08Rik
MMRRC Submission 039259-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R1187 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8046078-8069379 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8059416 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 52 (Y52H)
Ref Sequence ENSEMBL: ENSMUSP00000086165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088786] [ENSMUST00000148633]
AlphaFold Q6P069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000003245
Predicted Effect probably damaging
Transcript: ENSMUST00000088786
AA Change: Y52H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: Y52H

low complexity region 4 14 N/A INTRINSIC
Pfam:EF-hand_5 30 43 8.7e-4 PFAM
EFh 59 87 6.75e0 SMART
EFh 89 117 1.02e-2 SMART
Blast:EFh 153 183 9e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145119
Predicted Effect probably damaging
Transcript: ENSMUST00000148633
AA Change: Y67H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: Y67H

low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_5 45 58 9.6e-4 PFAM
EFh 74 102 6.75e0 SMART
EFh 104 132 1.02e-2 SMART
Blast:EFh 168 198 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197065
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,528,981 (GRCm38) M4276I probably benign Het
Apol7b A T 15: 77,423,403 (GRCm38) F297L possibly damaging Het
C330027C09Rik T A 16: 49,000,293 (GRCm38) N132K probably damaging Het
Capsl C T 15: 9,457,721 (GRCm38) R9W probably damaging Het
Catsperb T C 12: 101,625,732 (GRCm38) V1107A probably benign Het
Clca1 T C 3: 145,009,743 (GRCm38) I544M probably benign Het
Cma2 T C 14: 55,972,823 (GRCm38) V55A probably benign Het
Col10a1 A T 10: 34,394,838 (GRCm38) I269F probably benign Het
Col26a1 G A 5: 136,744,166 (GRCm38) H385Y probably damaging Het
Ctdp1 A G 18: 80,449,487 (GRCm38) Y598H probably damaging Het
Dnajc1 A G 2: 18,284,709 (GRCm38) S296P probably benign Het
Dvl2 A T 11: 70,006,136 (GRCm38) T250S probably benign Het
Etv1 A G 12: 38,865,564 (GRCm38) Y410C probably damaging Het
Gm38394 G A 1: 133,659,203 (GRCm38) T132I probably damaging Het
Krcc1 A T 6: 71,284,628 (GRCm38) K215* probably null Het
Lrr1 A T 12: 69,175,022 (GRCm38) T313S probably benign Het
Lrrc7 T A 3: 158,160,402 (GRCm38) E1234V probably damaging Het
Mepe G A 5: 104,338,248 (GRCm38) R418H probably damaging Het
Myrfl G A 10: 116,831,542 (GRCm38) T331I probably damaging Het
Nbeal1 T C 1: 60,194,528 (GRCm38) W26R probably damaging Het
Nsrp1 G A 11: 77,046,027 (GRCm38) P448S probably benign Het
Ofcc1 C T 13: 40,208,829 (GRCm38) G206R probably benign Het
Olfml2a A G 2: 38,959,813 (GRCm38) N514D probably damaging Het
Olfr1390 T G 11: 49,340,590 (GRCm38) D19E probably damaging Het
Olfr167 T C 16: 19,515,046 (GRCm38) T197A probably benign Het
Pcdhb1 C T 18: 37,265,544 (GRCm38) R183C probably damaging Het
Phf14 T G 6: 11,941,496 (GRCm38) C41G probably damaging Het
Pkhd1l1 T C 15: 44,498,051 (GRCm38) V499A possibly damaging Het
Plcb4 A G 2: 135,968,394 (GRCm38) I638V probably benign Het
Ppp4c T A 7: 126,786,200 (GRCm38) I296F probably benign Het
Prkdc T C 16: 15,759,746 (GRCm38) V2388A probably damaging Het
Rgl1 T C 1: 152,544,433 (GRCm38) D353G probably benign Het
Rnf19b T G 4: 129,075,567 (GRCm38) probably null Het
Ryr3 C T 2: 112,958,176 (GRCm38) D190N probably damaging Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Sema3e G A 5: 14,232,084 (GRCm38) M411I probably damaging Het
Sgsh A T 11: 119,346,578 (GRCm38) Y403* probably null Het
Sh2d7 T A 9: 54,541,187 (GRCm38) L164Q probably benign Het
Slfn8 A T 11: 83,003,488 (GRCm38) V775E probably damaging Het
Smgc G A 15: 91,860,600 (GRCm38) G287S probably damaging Het
Soat1 T A 1: 156,434,175 (GRCm38) Y421F probably damaging Het
Stat4 C A 1: 52,076,677 (GRCm38) Q259K probably damaging Het
Trpm5 A G 7: 143,074,469 (GRCm38) L1023P probably damaging Het
Ush1c T A 7: 46,208,914 (GRCm38) N650I probably benign Het
Vmn2r8 G T 5: 108,803,219 (GRCm38) S120* probably null Het
Zbtb14 C A 17: 69,388,502 (GRCm38) F398L probably damaging Het
Zfp629 T C 7: 127,611,887 (GRCm38) K250R probably damaging Het
Zfp629 A G 7: 127,610,229 (GRCm38) S803P probably benign Het
Zfp758 T A 17: 22,375,190 (GRCm38) I187N probably benign Het
Zfp85 T A 13: 67,749,716 (GRCm38) K79I probably damaging Het
Other mutations in Sri
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Sri APN 5 8,063,755 (GRCm38) splice site probably null
IGL02442:Sri APN 5 8,062,411 (GRCm38) missense probably damaging 1.00
IGL02661:Sri APN 5 8,063,252 (GRCm38) splice site probably benign
IGL02675:Sri APN 5 8,067,534 (GRCm38) missense probably damaging 1.00
R0847:Sri UTSW 5 8,063,755 (GRCm38) splice site probably null
R0973:Sri UTSW 5 8,059,381 (GRCm38) missense probably damaging 1.00
R0973:Sri UTSW 5 8,059,381 (GRCm38) missense probably damaging 1.00
R0974:Sri UTSW 5 8,059,381 (GRCm38) missense probably damaging 1.00
R2860:Sri UTSW 5 8,067,540 (GRCm38) missense probably benign 0.26
R2861:Sri UTSW 5 8,067,540 (GRCm38) missense probably benign 0.26
R3844:Sri UTSW 5 8,064,576 (GRCm38) missense probably damaging 1.00
R4345:Sri UTSW 5 8,059,427 (GRCm38) splice site probably null
R4575:Sri UTSW 5 8,063,693 (GRCm38) missense probably damaging 1.00
R4704:Sri UTSW 5 8,062,430 (GRCm38) splice site probably null
R5878:Sri UTSW 5 8,059,353 (GRCm38) missense probably damaging 1.00
R6257:Sri UTSW 5 8,059,596 (GRCm38) splice site probably null
R6944:Sri UTSW 5 8,063,365 (GRCm38) missense probably benign 0.09
R7716:Sri UTSW 5 8,056,641 (GRCm38) critical splice donor site probably null
R7917:Sri UTSW 5 8,063,409 (GRCm38) critical splice donor site probably null
R7929:Sri UTSW 5 8,057,652 (GRCm38) intron probably benign
R7960:Sri UTSW 5 8,064,586 (GRCm38) missense probably benign 0.04
R8316:Sri UTSW 5 8,063,317 (GRCm38) missense probably damaging 0.96
R9062:Sri UTSW 5 8,056,625 (GRCm38) missense unknown
R9224:Sri UTSW 5 8,063,323 (GRCm38) missense probably damaging 1.00
X0061:Sri UTSW 5 8,063,368 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-15