Incidental Mutation 'R0974:Sri'
ID 83004
Institutional Source Beutler Lab
Gene Symbol Sri
Ensembl Gene ENSMUSG00000003161
Gene Name sorcin
Synonyms 2210417O06Rik, 2900070H08Rik, Sor
MMRRC Submission 039103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R0974 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8096078-8119314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8109381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 55 (Q55L)
Ref Sequence ENSEMBL: ENSMUSP00000118221 (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: Q40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: Q40L

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: Q55L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: Q55L

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: ENSMUST00000197065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149420
Meta Mutation Damage Score 0.4332 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.5%
  • 20x: 91.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H probably damaging Het
Other mutations in Sri
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Sri APN 5 8,113,755 (GRCm39) splice site probably null
IGL02442:Sri APN 5 8,112,411 (GRCm39) missense probably damaging 1.00
IGL02661:Sri APN 5 8,113,252 (GRCm39) splice site probably benign
IGL02675:Sri APN 5 8,117,534 (GRCm39) missense probably damaging 1.00
R0847:Sri UTSW 5 8,113,755 (GRCm39) splice site probably null
R0973:Sri UTSW 5 8,109,381 (GRCm39) missense probably damaging 1.00
R0973:Sri UTSW 5 8,109,381 (GRCm39) missense probably damaging 1.00
R1187:Sri UTSW 5 8,109,416 (GRCm39) missense probably damaging 1.00
R2860:Sri UTSW 5 8,117,540 (GRCm39) missense probably benign 0.26
R2861:Sri UTSW 5 8,117,540 (GRCm39) missense probably benign 0.26
R3844:Sri UTSW 5 8,114,576 (GRCm39) missense probably damaging 1.00
R4345:Sri UTSW 5 8,109,427 (GRCm39) splice site probably null
R4575:Sri UTSW 5 8,113,693 (GRCm39) missense probably damaging 1.00
R4704:Sri UTSW 5 8,112,430 (GRCm39) splice site probably null
R5878:Sri UTSW 5 8,109,353 (GRCm39) missense probably damaging 1.00
R6257:Sri UTSW 5 8,109,596 (GRCm39) splice site probably null
R6944:Sri UTSW 5 8,113,365 (GRCm39) missense probably benign 0.09
R7716:Sri UTSW 5 8,106,641 (GRCm39) critical splice donor site probably null
R7917:Sri UTSW 5 8,113,409 (GRCm39) critical splice donor site probably null
R7929:Sri UTSW 5 8,107,652 (GRCm39) intron probably benign
R7960:Sri UTSW 5 8,114,586 (GRCm39) missense probably benign 0.04
R8316:Sri UTSW 5 8,113,317 (GRCm39) missense probably damaging 0.96
R9062:Sri UTSW 5 8,106,625 (GRCm39) missense unknown
R9224:Sri UTSW 5 8,113,323 (GRCm39) missense probably damaging 1.00
X0061:Sri UTSW 5 8,113,368 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-11-08